Cardiology Diseases Flashcards
(479 cards)
1
Q
Volume Overload HF: Exam/EKG Findings
A
S3, JVD, narrow PP, pulsus alternans, cool extremities, +/- rales, hepatomegaly (HJ reflex)
2
Q
Volume Overload HF: Labs/Imaging/BP
A
BNP >400, ↓Na AND ↑PCWP, ↑EDP
3
Q
Volume Overload HF: Pathophysiology
A
Excessive preload → eccentric remodeling → decreased contractility
4
Q
Volume Overload HF: Etiologies
A
MR, AR, volume overload, L→R shunt, chronic kidney disease
5
Q
Volume Overload HF: Treatment/Notes
A
Stage A: Diuretics (↓preload), beta blockers (↓HR, ↑filling time), ACEi’s/ARBs, statins, aldosterone antagonists (↓afterload),↓Na, exercise +/- anticoag and diabetes control. Stage B: Add ICD if LV systolic dysfunction. Stage C: Add more! Stage D: death or transplant
6
Q
Pressure Overload HF: Epi
A
Hypertension
7
Q
Pressure Overload HF: Symptoms
A
FACES - Fatigue, Altered Activity, Congestion, Edema, SOB. Can get difficulty sleeping (paroxysmal nocturnal dyspnea), cachexia, orthopnea, Valsalva square wave
8
Q
Pressure Overload HF: Exam/EKG Findings
A
S3, JVD, narrow PP, pulsus alternans, cool extremities, +/- rales, hepatomegaly (HJ reflex)
9
Q
Pressure Overload HF: Labs/Imaging/BP
A
BNP >400, ↓Na AND ↑BP, ↓SV, ↑PCWP
10
Q
Pressure Overload HF: Pathophysiology
A
Excessive afterload → concentric hypertrophy → decreased filling
11
Q
Pressure Overload HF: Etiologies
A
HTN, AS, aortic coarctation
12
Q
Pressure Overload HF: Treatment/Notes
A
Stage A: Diuretics (↓preload), beta blockers (↓HR, ↑filling time), ACEi’s/ARBs, statins, aldosterone antagonists (↓afterload),↓Na, exercise +/- anticoag and diabetes control. Stage B: Add ICD if LV systolic dysfunction. Stage C: Add more! Stage D: death or transplant
13
Q
Systolic HF: Epi
A
All ages
14
Q
Systolic HF: Symptoms
A
FACES - Fatigue, Altered Activity, Congestion, Edema, SOB. Can get difficulty sleeping (paroxysmal nocturnal dyspnea), cachexia, orthopnea, Valsalva square wave
15
Q
Systolic HF: Exam/EKG Findings
A
S3, JVD, narrow PP, pulsus alternans, cool extremities, +/- rales, hepatomegaly (HJ reflex)
16
Q
Systolic HF: Labs/Imaging/BP
A
BNP >400, ↓Na AND ↓BP, ↓SV, ↓CO, ↑PCWP, S3
17
Q
Systolic HF: Cat
A
Heart Failure
18
Q
Systolic HF: Pathophysiology
A
Decreased contractility ↔ eccentric remodeling
19
Q
Systolic HF: Etiologies
A
ischemic cardiomyopathy, viral myocarditis, toxins
20
Q
Systolic HF: Treatment/Notes
A
Stage A: Diuretics (↓preload), beta blockers (↓HR, ↑filling time), ACEi’s/ARBs, statins, aldosterone antagonists (↓afterload),↓Na, exercise +/- anticoag and diabetes control. Stage B: Add ICD if LV systolic dysfunction. Stage C: Add more! Stage D: death or transplant
21
Q
Diastolic HF: Epi
A
> 60 yo, female
22
Q
Diastolic HF: Symptoms
A
Same as systolic HF, but EF is preserved
23
Q
Diastolic HF: Exam/EKG Findings
A
S3, S4,JVD, narrow PP, pulsus alternans, cool extremities, +/- rales, hepatomegaly (HJ reflex)
24
Q
Diastolic HF: Labs/Imaging/BP
A
BNP >400, ↓Na AND ↓Capacitance, EDPVR shifts up + left, normal EF
25
Diastolic HF: Cat
Heart Failure
26
Diastolic HF: Pathophysiology
Decreased filling ↔ concentric hypertrophy
27
Diastolic HF: Etiologies
HTN, MS, RCM, tamponade, HCM, infiltrative
28
Diastolic HF: Treatment/Notes
Stage A: Diuretics (↓preload), beta blockers (↓HR, ↑filling time), ACEi's/ARBs, statins, aldosterone antagonists (↓afterload),↓Na, exercise +/- anticoag and diabetes control. Stage B: Add ICD if LV systolic dysfunction. Stage C: Add more! Stage D: death or transplant
29
Acute Decompensated HF (ADHF): Symptoms
FACES, paroxysmal nocturnal dyspnea, cachexia, orthopnea, Valsalva square wave, with worsened dyspnea and fatigue
30
Acute Decompensated HF (ADHF): Exam/EKG Findings
Same as HF, with acute respiratory distress, severe JVD.
31
Acute Decompensated HF (ADHF): Labs/Imaging/BP
BNP >400, ↓Na
32
Acute Decompensated HF (ADHF): Cat
Heart Failure
33
Acute Decompensated HF (ADHF): Pathophysiology
Compensatory mechanisms fail
34
Acute Decompensated HF (ADHF): Treatment/Notes
Based on ACC Stage: Stage A: Diuretics (↓preload), beta blockers (↓HR, ↑filling time), ACEi's/ARBs (↓afterload), statins, aldosterone antagonists (↓afterload),↓Na, exercise +/- anticoag and DM mgmt
Stage B: Add ICD if LV systolic dysfunction. Stage C: A
35
High CO HF: Symptoms
Same as HF
36
High CO HF: Exam/EKG Findings
Same as HF
37
High CO HF: Labs/Imaging/BP
BNP >400, ↓Na AND High PP
38
High CO HF: Etiologies
Anemia, pregnancy, obesity, etc.
39
High CO HF: Treatment/Notes
Stage A: Diuretics (↓preload), beta blockers (↓HR, ↑filling time), ACEi's/ARBs, statins, aldosterone antagonists (↓afterload),↓Na, exercise +/- anticoag and diabetes control. Stage B: Add ICD if LV systolic dysfunction. Stage C: Add more! Stage D: death or transplant
40
Acute Cardiorenal Syndrome: Symptoms
Triad: (1) ↓kidney function: dark urine, low urine output. (2) Therapy-resistant HF: JVD, congestion, PE, rales, ↑BNP (3) Worsening kidney function (↑creatinine)
41
Acute Cardiorenal Syndrome: Exam Findings
Salt + water retention, congestion, edema, JVD
42
Acute Cardiorenal Syndrome: Labs
↑Creatinine, BUN (blood urea nitrogen, suggests renal failure)
43
Acute Cardiorenal Syndrome: Category
Heart + Kidney
44
Acute Cardiorenal Syndrome: Pathophysiology
Acute cardiac event → ↓CO, ↓renal perfusion, acute kidney injury → inflammation, kidneys ↑BP via RAAS
45
Acute Cardiorenal Syndrome: Etiologies
MI: ↓CO, vasodilators
46
Acute Cardiorenal Syndrome: Treatment
| What indicates poor prognosis?
Tx: reduce or d/c ACEis, ARBs; titrate diuretics down; consider inotropes, aldosterone antagonists, vasodilators, assist devices, heart ± kidney xplant, dialysis
↑creatinine poor prognosis
47
Chronic Cardiorenal Syndrome: Symptoms
Triad: (1) ↓kidney function: dark urine, low urine output. (2) Therapy-resistant HF: JVD, congestion, PE, rales, ↑BNP (3) Worsening kidney function (↑creatinine)
48
Chronic Cardiorenal Syndrome: Exam
| What is effect of ACEi?
RAAS-mediated anemia, edema, uremia. ACEi's cause chronic renal hypoperfusion, sclerosis, fibrosis
49
Chronic Cardiorenal Syndrome: Labs
↑Creatinine, BUN
50
Chronic Cardiorenal Syndrome: Cat
Heart + Kidney
51
Chronic Cardiorenal Syndrome: Pathophysiology
Heart failure (or treatment for it) → ↓CO → ↓renal perfusion → ischemic nephropathy, RAAS kicks in → ↑BP
52
Chronic Cardiorenal Syndrome: Etiologies
| Substances that worsen kidney function
Contrast media, ACEi, diuretics, vasodilators, inotropes will worsen kidney function
53
Chronic Cardiorenal Syndrome: Treatment
Tx: reduce or d/c ACEis, ARBs; titrate diuretics down; consider inotropes, aldosterone antagonists, vasodilators, assist devices, heart ± kidney xplant, dialysis; ↑creatinine poor prognosis
54
Acute Renocardiac Syndrome: Symptoms
Dark urine, low urine output, edema
55
Acute Renocardiac Syndrome: Exam/symtpoms
Volume expansion symptoms, dilated cardiomyopathy
56
Acute Renocardiac Syndrome: Labs
↑BP ± uremia
57
Acute Renocardiac Syndrome: Cat
Heart + Kidney
58
Acute Renocardiac Syndrome: Pathophysiology
Acute renal problem → ↓GFR, oliguria → acute cardiac issues: HTN, HF
59
Acute Renocardiac Syndrome: Etiologies
Glomerulo-nephritis, etc.
60
Acute Renocardiac Syndrome: Comorbidity/treatment
Comorbid conditions: smoking, obesity, HTN, dyslipidemia, chronic inflammation
Tx: control BP, add/increase diuretics, treat anemia and Ca++/P+ abnormalities, kidney ± heart xplant, dialysis
61
Chronic Renocardiac Syndrome: Symptoms
CHF, CAD, arrhythmias
62
Chronic Renocardiac Syndrome: Exam/Symptoms
Volume expansion symptoms, dilated cardiomyopathy
63
Chronic Renocardiac Syndrome: Labs
↑BP ± uremia
64
Chronic Renocardiac Syndrome: Cat
Heart + Kidney
65
Chronic Renocardiac Syndrome: Pathophysiology
Chronic kidney disease → volume overload
66
Chronic Renocardiac Syndrome: Etiologies
diabetes, etc.
67
Chronic Renocardiac Syndrome: Treatment/Comorbidity
Comorbid conditions: smoking, obesity, HTN, dyslipidemia, chronic inflammation
Tx: control BP, add/increase diuretics, treat anemia and Ca++/P+ abnormalities, kidney ± heart xplant, dialysis
68
Secondary Cardiorenal Syndrome: Cat
Heart + Kidney
69
Secondary Cardiorenal Syndrome: Pathophysiology
Infiltrative process (e.g. amyloidosis) independently destroys both kidneys + heart
70
Secondary Cardiorenal Syndrome: Treatment
Treat underlying condition
71
Pulmonary Venous Hypertension (PVH): Symptoms
| What happens to the fingers?
Pulmonary congestion: cough, dyspnea, fatigue, orthopnea, hemoptysis, paroxysmal nocturnal dyspnea
Systemic congestion from RV failure: edema, ascites, RUQ pain (liver congestion), clubbing, cyanosis
72
Pulmonary Venous Hypertension (PVH): CXR/cath
CXR: ↑pulmonary vasculature in upper lobes → interstitial edema → alveolar edema ("white-out")
↑LAP + PCWP
73
Pulmonary Venous Hypertension (PVH): Cat
Heart + Lungs
74
Pulmonary Venous Hypertension (PVH): Pathophysiology by the numbers
PAP mean of >25mmHg @ rest or >30 with exercise + PCWP or LVED > 15 → vessels hypertrophy, dilate
75
Pulmonary Venous Hypertension (PVH): Etiologies
↑LA pressure, from any number of left-sided heart pathologies, excess IV fluid, mitral stenosis
76
Pulmonary Venous Hypertension (PVH): Treatment
Diuretics
77
Dilated Cardiomyopathy: Symptoms
SOB, fatigue, ↓ET
78
Dilated Cardiomyopathy: Exam/EKG Findings
S3, left shift of axis, poor precordial R wave propagation, lat.-displaced PMI
79
Dilated Cardiomyopathy: Imaging/EF
↓EF, LV dilation
80
Dilated Cardiomyopathy: Cat
Cardiomyopathies
81
Dilated Cardiomyopathy: Pathophysiology
Systolic dysfunction from weakened ventricular wall
82
Dilated Cardiomyopathy: Many Etiologies
Congenital (glycogen storage disorder), regurgitation, myocarditis (Giant cell, CMV, toxo, Chagas, Rheumatic, Lyme), infiltrative (amyloid, sarcoid, Fe, ↑eos, tumor), toxin (doxo, XRT, EtOH), ASD/VSD
83
Dilated Cardiomyopathy: Treatment
Treat underlying cause + heart failure
84
Restrictive Cardiomyopathy: Symptoms
Orthopnea, PND, R>L sided HF, thromboembolic events
85
Restrictive Cardiomyopathy: Exam/EKG Findings
↑JVP, edema, ascites, refractory to diuretics, low voltage QRS, S4 ± S3
86
Restrictive Cardiomyopathy: Labs/Imaging
Thickened heart wall; Cardiac cath: Ms or Ws (x and y descents) in atria, dip+plateau in ventricles
87
Restrictive Cardiomyopathy: Cat
Cardiomyopathies
88
Restrictive Cardiomyopathy: Pathophysiology
Diastolic dysfunction from junk in ventricular wall
89
Restrictive Cardiomyopathy: Etiologies
Amyloidosis, hemochromatosis, scleroderma, tumor, sarcoid, Pompe's, chronic ↑eos
90
Restrictive Cardiomyopathy: Treatment
Treat underlying cause + heart failure, anticoagulation
91
Hypertrophic Cardiomyopathy: Epi
1/500; AD, sporadic
92
Hypertrophic Cardiomyopathy: Symptoms
Angina, dyspnea, syncope, chest pain, SOB, fatigue
93
Hypertrophic Cardiomyopathy: Exam/EKG Findings
S4, ↑JVP, prominent v wave, spike-and-dome pulse, maybe mitral regurg, a.fib
94
Hypertrophic Cardiomyopathy: Labs/Imaging
↑BNP, high voltage LV, LV hypertrophy (septum>free wall)
95
Hypertrophic Cardiomyopathy: Cat
Cardiomyopathies
96
Hypertrophic Cardiomyopathy: Pathophysiology
Diastolic dysfunction from thick ventricular wall
97
Hypertrophic Cardiomyopathy: Etiologies
Inherited HCM, "athlete's heart," aortic stenosis (L), pulmonary HTN (R)
98
Hypertrophic Cardiomyopathy: Treatment/Notes
↑Risk of sudden cardiac death; Tx: Beta blockers, calcium channel blockers
99
Sinus Tachycardia
>100bpm but otherwise normal sinus
100
Sinus Tachycardia: Cat
Supraventricular Tachyarrhythmias (SVTs)
101
Sinus Tachycardia: Pathophysiology
pulmonary embolism, fever, anxiety, etc. →↑SA node rate
102
Sinus Tachycardia: Treatment
Treat underlying cause / β blockers
103
Premature Atrial Contractions (PAC): Symptoms
Perceived irregular rhythm
104
Premature Atrial Contractions (PAC): EKG Findings
P waves from another focus (earlier in cycle, diff. morphology)
105
Premature Atrial Contractions (PAC): Cat
Supraventricular Tachyarrhythmias (SVTs)
106
Premature Atrial Contractions (PAC): Pathophysiology
Cardiac tissue injury → automaticity outside nodes
107
Premature Atrial Contractions (PAC): Treatment
Benign; like atrial tachycardia but only once in awhile; β blockers to ↓freq
108
Paroxysmal SVTs: Cat
Supraventricular Tachyarrhythmias (SVTs)
109
Paroxysmal SVTs: Treatment
| Acute v. Chronic
Acute Tx: if unstable, cardiovert; if stable, vagal maneuvers / adenosine + β / calcium channel blockers Chronic Tx: avoid triggers, antiarrhythmics / catheter ablation
110
Atrial Tachycardia : EKG Findings
Many different P wave morphologies
111
Atrial Tachycardia : Cat
Supraventricular Tachyarrhythmias (SVTs)
112
Atrial Tachycardia : Pathophysiology
Atrial focus/foci faster than SA node
113
Atrial Tachycardia : Notes
Can be focal or multifocal
114
AV Nodal Reentrant Tachycardia (AVNRT): EKG Findings
P can come after QRS, or be inverted, or hidden within QRS
115
AV Nodal Reentrant Tachycardia (AVNRT): Cat
Supraventricular Tachyarrhythmias (SVTs)
116
AV Nodal Reentrant Tachycardia (AVNRT): Pathophysiology
Altered refractory period in AV node allows impulse to return backwards via AV node
117
AV Nodal Reentrant Tachycardia (AVNRT): Treatment
Ablate slower pathway within AV node
118
AV Reciprocating Tachycardia (AVRT): EKG Findings
Short PR, delta waves (widened QRS)
119
AV Reciprocating Tachycardia (AVRT): Cat
Supraventricular Tachyarrhythmias (SVTs)
120
AV Reciprocating Tachycardia (AVRT): Pathophysiology
Signal goes down normal pathway and back up via accessory pathway (orthodromic) or down accessory and up normal (antidromic)
121
AV Reciprocating Tachycardia (AVRT): Caused by
Can be caused by Wolff-Parkinson-White syndrome (short PR); AV valve rings are usual culprit
122
Atrial Fibrillation (AF): Epi
Most common
123
Atrial Fibrillation (AF): Exam/EKG Findings
Irregularly irregular ventricular rhythm, random baseline, no clear P waves, small fibrillatory waves >300bpm
124
Atrial Fibrillation (AF): Cat
Supraventricular Tachyarrhythmias (SVTs)
125
Atrial Fibrillation (AF): Pathophysiology
Many reentrant circuits in atrium
126
Atrial Fibrillation (AF): Etiologies
HF, coronary or valvular dz, cardio-myopathy, PE, HTN
127
Atrial Fibrillation (AF): Treatment
Anticoagulants (dabigatran; turbulence triggers clot formation), anti-arrhythmics if severe symptoms, BBs/digoxin for rate control, rhythm control if refractory
128
Atrial Flutter (AFL): EKG Findings
"Sawtooth" P waves, ~300bpm in atria
129
Atrial Flutter (AFL): Cat
Supraventricular Tachyarrhythmias (SVTs)
130
Atrial Flutter (AFL): Pathophysiology
Single large reentrant circuit in atrium
131
Atrial Flutter (AFL): Treatment
Anticoagulants (dabigatran; turbulence triggers clot formation), anti-arrhythmics if severe symptoms, BBs/digoxin for rate control, rhythm control if refractory
132
Premature Ventricular Contractions (PVC): Epi
Common
133
Premature Ventricular Contractions (PVC): Symptoms
Asymptomatic, may get dizzy/fatigued
134
Premature Ventricular Contractions (PVC): EKG Findings
Occasional taller, wider QRS, can lead to P wave burial if signal → retrograde to atria
135
Premature Ventricular Contractions (PVC): Cat
Ventricular Tachyarrhythmias
136
Premature Ventricular Contractions (PVC): Pathophysiology
Cardiac tissue injury → automaticity outside nodes
137
Premature Ventricular Contractions (PVC): Treatment
No treatment necessary; BBs if symptomatic
138
Ventricular Tachycardia (V.Tach): EKG Findings
Buried P waves; Non-sustained: >100bpm
| Sustained: >100bpm for >30s
139
Ventricular Tachycardia (V.Tach): Cat
Ventricular Tachyarrhythmias
140
Ventricular Tachycardia (V.Tach): Pathophysiology
Reentrant circuit or ↑rate in ventricle
141
Ventricular Tachycardia (V.Tach): Treatment
BBs, amiodarone/sotalol to reduce symptoms, ICD, catheter ablation
142
Torsades de Pointes: EKG Findings AND Labs
Polymorphic, long QT, oscillating amplitude; hypomagnesemia
143
Torsades de Pointes: Cat
Ventricular Tachyarrhythmias
144
Torsades de Pointes: Pathophysiology
Oscillating amplitude of EKG
145
Torsades de Pointes: Etiologies
Long QT syndrome, ischemia, drugs
146
Torsades de Pointes: Treatment
Mg++, K+, isoproterenol or pacemaker @ 100bpm, lidocaine to decrease QT
147
Ventricular Fibrillation: EKG Findings
>300bpm, chaotic, disorganized ventricular rhythm
148
Ventricular Fibrillation: Cat
Ventricular Tachyarrhythmias
149
Ventricular Fibrillation: Pathophysiology
Multiple reentrant circuits in ventricle
150
Ventricular Fibrillation: Treatment
Life-threatening, defibrillation stat
151
Sinus Bradycardia: EKG Findings
<60 bpm, both otherwise normal sinus
152
Sinus Bradycardia: Cat
Bradyarrhythmias
153
Sinus Bradycardia: Pathophysiology
↓SA rate or heart block
154
Sinus Bradycardia: Etiologies
Acute MI, hypothyroidism, infiltrative, drugs, athletes/teens
155
1st Degree AV Block: Symptoms
Angina, syncope
156
1st Degree AV Block: EKG Findings
PR interval >0.2 sec "long PR syndrome"
157
1st Degree AV Block: Cat
Bradyarrhythmias
158
1st Degree AV Block: Pathophysiology
↓AV conductivity
159
1st Degree AV Block: Treatment
Benign if asymptomatic
160
2nd Degree AV Block (Mobitz I) (Wenckebach): EKG Findings
PR progressively ↑ until QRS dropped
161
2nd Degree AV Block (Mobitz I) (Wenckebach): Cat
Bradyarrhythmias
162
2nd Degree AV Block (Mobitz I) (Wenckebach): Pathophysiology
Progressive PR prolongation
163
2nd Degree AV Block (Mobitz I) (Wenckebach): Etiologies AND Treatment
Drugs that slow conduction, athletes;
| Tx: correct if reversible cause, pacemaker if syncope or angina
164
2nd Degree AV Block (Mobitz II): Symptoms
Pre-syncope, syncope
165
2nd Degree AV Block (Mobitz II): EKG Findings
PR stays constant but QRS dropped intermittently
166
2nd Degree AV Block (Mobitz II): Cat
Bradyarrhythmias
167
2nd Degree AV Block (Mobitz II): Pathophysiology
AV node blocks some atrial impulses
168
2nd Degree AV Block (Mobitz II): Etiologies
| Where is the block?
Block is below AV node (His-Purkinje)
169
2nd Degree AV Block (Mobitz II): Treatment/Notes
More severe than Mobitz I, worsened by exercise;
| Tx: pacemaker for everyone
170
3rd Degree AV Block: Symptoms
Dizziness, syncope, angina, HF
171
3rd Degree AV Block: EKG Findings
P waves dissociated from QRS but otherwise each normal
172
3rd Degree AV Block: Cat
Bradyarrhythmias
173
3rd Degree AV Block: Pathophysiology
No conduction from atria to ventricles at all
174
3rd Degree AV Block: Treatment/Notes
Atrial rate higher than ventricular rate (per natural frequencies);
Tx: pacing
175
Junctional (Nodal) Escape Rhythm: EKG Findings
Widened QRS, no P for awhile, 50-60bpm
176
Junctional (Nodal) Escape Rhythm: Cat
Bradyarrhythmias
177
Junctional (Nodal) Escape Rhythm: Pathophysiology
SA rate slows to the point where AV node takes over
178
Ventricular Escape Rhythm: EKG Findings
Widened QRS, long PR, 30-40bpm
| Slower than Nodal escape rhythm
179
Ventricular Escape Rhythm: Cat
Bradyarrhythmias
180
Ventricular Escape Rhythm: Pathophysiology
SA rate slows to the point where ventricular pacemakers take over
181
Four ways to pancreatitis
Secondary hypertriglyceridemia
Familial hypertriglyceridemia IV
lipoprotein lipase deficiency
Apo-II deficiency
182
Secondary Cholesterolemia: Labs/Imaging/BP
↑Plasma cholesterol
↑LDL, the most important atherogenic lipoprotein
Normal TG levels
183
Secondary Cholesterolemia: Cat
Dyslipidemias
184
Secondary Cholesterolemia: Pathophysiology AND Etiologies
↓LDLr activity from diet high in saturated fat/cholesterol, hypothyroidism, biliary obstruction, or drugs; or ↓VLDL synthesis from nephrotic syndrome
185
Secondary Cholesterolemia: Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
186
Polygenic Hypercholesterolemia: Epi
Common
187
Polygenic Hypercholesterolemia: Symptoms
↑CHD risk
188
Polygenic Hypercholesterolemia: Exam/EKG Findings
↑LDL
189
Polygenic Hypercholesterolemia: Labs/Imaging/BP
↑Plasma cholesterol
↑LDL, the most important atherogenic lipoprotein
Normal TG levels
190
Polygenic Hypercholesterolemia: Cat
Dyslipidemias
191
Polygenic hypercholesterolemia v. Monogenic
Less severe LDL elevation than monogenic, not very strong inheritance
192
Polygenic Hypercholesterolemia: Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
193
Familial Hypercholesterolemia (IIa): Epi
1/500, AD
194
Familial Hypercholesterolemia (IIa): Symptoms AND Exam/EKG Findings
↑LDL, coronary heart disease, tendon xanthomas, xanthelasmas (cholesterol in eyelids), corneal arcus (white ring in iris)
Mostly AD with increased severity if homozygote
195
Familial Hypercholesterolemia (IIa): Labs/Imaging/BP
↑Plasma cholesterol
↑LDL, the most important atherogenic lipoprotein
Normal TG levels
196
Familial Hypercholesterolemia (IIa): Cat
Dyslipidemias
197
Familial Hypercholesterolemia (IIa): Pathophysiology AND Etiologies
Defect?
Defect in LDLr → ↑LDL synthesis, ↑↑CHD risk (worse if homozygote (1/million))
198
Familial Hypercholesterolemia (IIa): Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
199
Familial Defective apoB (IIa): Epi
1/1000, AD
200
Familial Defective apoB (IIa): Symptoms AND Exam/EKG Findings
↑LDL, coronary heart disease, tendon xanthomas, xanthelasmas (cholesterol in eyelids), corneal arcus (white ring in iris)
Mostly AD with increased severity if homozygote
201
Familial Defective apoB (IIa): Labs/Imaging/BP
↑Plasma cholesterol
↑LDL, the most important atherogenic lipoprotein
Normal TG levels
202
Familial Defective apoB (IIa): Cat
Dyslipidemias
203
Familial Defective apoB (IIa): Pathophysiology AND Etiologies
apoB gene defect → defective ligand for LDLr, ↓LDL clearance, 1/4M homozygous
204
Familial Defective apoB (IIa): Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
205
Autosomal Dominant Hypercholesterolemia: Epi
<1/2500, AD
206
Autosomal Dominant Hypercholesterolemia: Symptoms AND Exam/EKG Findings
↑LDL, coronary heart disease, tendon xanthomas, xanthelasmas (cholesterol in eyelids), corneal arcus (white ring in iris)
Mostly AD with increased severity if homozygote
207
Autosomal Dominant Hypercholesterolemia: Labs/Imaging/BP
↑Plasma cholesterol
↑LDL, the most important atherogenic lipoprotein
Normal TG levels
208
Autosomal Dominant Hypercholesterolemia: Cat
Dyslipidemias
209
Autosomal Dominant Hypercholesterolemia: Pathophysiology AND Etiologies
Gene?
GOF mutation in PCSK9 → ↑LDLr lysosomal degradation
210
Autosomal Dominant Hypercholesterolemia: Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
211
Autosomal Recessive Hypercholesterolemia: Epi
1/5M, AR
212
Autosomal Recessive Hypercholesterolemia: Symptoms AND Exam/EKG Findings
↑LDL, coronary heart disease, tendon xanthomas, xanthelasmas (cholesterol in eyelids), corneal arcus (white ring in iris)
Mostly AD with increased severity if homozygote
213
Autosomal Recessive Hypercholesterolemia: Labs/Imaging/BP
↑Plasma cholesterol
↑LDL, the most important atherogenic lipoprotein
Normal TG levels
214
Autosomal Recessive Hypercholesterolemia: Cat
Dyslipidemias
215
Autosomal Recessive Hypercholesterolemia: Pathophysiology AND Etiologies
Gene?
Defect in ARH gene (bridges LDLr and clathrin coated pit) → ↓LDL clearance
216
Autosomal Recessive Hypercholesterolemia: Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
217
Familial Combined Hyperlipidemia (IIb): Epi
AD, most common
218
Familial Combined Hyperlipidemia (IIb): Symptoms
Metabolic syndrome
219
Familial Combined Hyperlipidemia (IIb): Note!
May not see ↑LDL + ↑TG in same people
220
Familial Combined Hyperlipidemia (IIb): Labs/Imaging/BP
↑LDL and ↑TG
221
Familial Combined Hyperlipidemia (IIb): Cat
Dyslipidemias
222
Familial Combined Hyperlipidemia (IIb): Pathophysiology AND Etiologies
Defect?
↑apoB hepatic synthesis→↑CHD risk, cause for 30% of hyperlipidemic MI survivors
223
Familial Combined Hyperlipidemia (IIb): Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
224
Type III Hyperlipoproteinemia: Epi
AR with ↓penet.
225
Type III Hyperlipoproteinemia: Symptoms AND Exam/EKG Findings
Atherosclerosis, palmar + tuboeruptive xanthomas; +↑VLDL in Type V
226
Type III Hyperlipoproteinemia: Labs/Imaging/BP
↑LDL and ↑TG
227
Type III Hyperlipoproteinemia: Cat
Dyslipidemias
228
Type III Hyperlipoproteinemia: Pathophysiology AND Etiologies
Defect?
mutant ApoE impairs binding + clearance of chylomicrons
229
Type III Hyperlipoproteinemia: Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
230
Secondary Hypertriglyceridemia: Symptoms
Pancreatitis from ↑pancreatic lipase, eruptive xanthomas, lipemia retinalis
231
Secondary Hypertriglyceridemia: Labs/Imaging/BP
↑TG ± ↑VLDL
232
Secondary Hypertriglyceridemia: Cat
Dyslipidemias
233
Secondary Hypertriglyceridemia: Pathophysiology AND Etiologies
↑TG from obesity/EtOH, T1/2DM, nephrotic syndrome, estrogens, glucocorticoids, protease inhibitors, tretinoin
234
Secondary Hypertriglyceridemia: Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
235
Familial Hypertriglyceridemia (IV): Epi
1%, AD, common
236
Familial Hypertriglyceridemia (IV): Symptoms
Pancreatitis from ↑pancreatic lipase, eruptive xanthomas, lipemia retinalis
237
Familial Hypertriglyceridemia (IV): Exam/EKG Findings
↑VLDL
238
Familial Hypertriglyceridemia (IV): Labs/Imaging/BP
↑TG ± ↑VLDL
239
Familial Hypertriglyceridemia (IV): Cat
Dyslipidemias
240
Familial Hypertriglyceridemia (IV): Pathophysiology AND Etiologies
Defect?
↑hepatic TG synthesis, ↑VLDL, saturates LPL clearance, usually moderate disease
241
Familial Hypertriglyceridemia (IV): Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
242
Lipoprotein Lipase Deficiency (Ia): Epi
1/M
243
Lipoprotein Lipase Deficiency (Ia): Symptoms
Pancreatitis from ↑pancreatic lipase, eruptive xanthomas, lipemia retinalis
244
Lipoprotein Lipase Deficiency (Ia): Labs/Imaging/BP
↑TG ± ↑VLDL
245
Lipoprotein Lipase Deficiency (Ia): Cat
Dyslipidemias
246
Lipoprotein Lipase Deficiency (Ia): Pathophysiology AND Treatment
Results in early childhood pancreatitis from ↑↑pancreatic lipase Tx: low fat diet, MC TGs
247
Lipoprotein Lipase Deficiency (Ia): Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
248
Apo-II Deficiency (Ib): Symptoms
Pancreatitis from ↑pancreatic lipase, eruptive xanthomas, lipemia retinalis
249
Apo-II Deficiency (Ib): Labs/Imaging/BP
↑TG ± ↑VLDL
250
Apo-II Deficiency (Ib): Cat
Dyslipidemias
251
Apo-II Deficiency (Ib): Pathophysiology, duh
ApoCII deficiency
252
Apo-II Deficiency (Ib): Treatment/Notes
↓LDL is primary target: lifestyle change, assess for CVD risk
LDL-lowering drugs
Statins: prevent CHD, reduce all-cause mortality + coronary lesions
Bile acid sequestrants: no reduction in all-cause mortality
Niacin: no reduction in coronary lesions
Fibr
253
Aortic Stenosis: Epi
70s
254
Aortic Stenosis: Symptoms
Angina, syncope/pre-syncope, CHF, dyspnea
255
Aortic Stenosis: Exam/EKG Findings
Systolic crescendo-decrescendo murmur @ RUSB, ↓carotid upstroke, S4, ejection murmur, ↓A2, paradoxical S2 split
256
Aortic Stenosis: Cath, Echo
Cath: LV > aortic pressure during most of systole
Echo: LVH
257
Aortic Stenosis: Cat
Valvular Disorder
258
Aortic Stenosis: Pathophysiology
Aortic valve doesn't open properly → LV hypertrophies because of increased resistance
259
Aortic Stenosis: Etiologies
Age-related degeneration, congenital bicuspid aortic valve, rheumatic fever
260
Aortic Stenosis: Treatment/Notes
Staging: based on mean gradient, aortic valve area, peak gradient
Pulsus parvus et tardus is buzzword for ↓carotid upstroke
Tx: valve replacement
261
Aortic Regurgitation / Insufficiency: Symptoms
Dyspnea, rare angina
262
Aortic Regurgitation / Insufficiency: Exam/BP
Early diastolic decrescendo (>) murmur @ LUSB, wide PP, bounding pulses, S3
263
Aortic Regurg Cath and Echo
Cath: Aortic diastolic pressure plummets, LV diastolic pressure may shoot up
Echo: Dilated LV
264
Aortic Regurgitation / Insufficiency: Cat
Valvular Disorder
265
Aortic Regurgitation / Insufficiency: Pathophysiology
Aortic valve leaks → LV dilates because of backflow
266
Aortic Regurgitation / Insufficiency: Etiologies
Marfan's, Ehlers-Danlos, syphilis
267
Aortic Regurgitation / Insufficiency: Treatment/Notes
Staging: regurgitant volume, regurgitant fraction, and effective regurgitant orifice
Tx: valve replacement
268
Mitral Stenosis: Symptoms
Dyspnea, hemoptysis, fatigue, ↓ET, edema, a.fib
269
Mitral Stenosis: Exam
Low-pitched mid-diastolic rumble @ apex ± opening snap, ↑S1
270
Mitral Stenosis: Cath Echo
Cath: LA pressure > LV pressure at times
Echo: Dilated LA
271
Mitral Stenosis: Cat
Valvular Disorder
272
Mitral Stenosis: Pathophysiology
Mitral valve doesn't open properly → LA dilates from ↑resistance; can→a.fib
273
Mitral Stenosis: Etiologies
Rheumatic fever
274
Mitral Stenosis: Treatment/Notes
Staging: mean gradient, mitral valve area, PA systolic pressure
Tx: diuretics, rate/rhythm control, anticoag, valvuloplasty, replace valve
275
Mitral Regurgitation / Insufficiency: Symptoms
Acute: pulmonary congestion; Chronic: fatigue, etc.
276
Mitral Regurgitation / Insufficiency: Exam
High-pitched holosystolic murmur @ apex (worse with clenched fists), S3
277
Mitral Regurgitation / Insufficiency: Cat
Valvular Disorder
278
Mitral Regurgitation / Insufficiency: Pathophysiology
LV and LA dilate from excess blood volume, can → a.fib (stretched electrical fibers in LA)
279
Mitral Regurgitation / Insufficiency: Etiologies
MVP, endocarditis, ischemic heart disease, rheumatic fever
280
Mitral Regurgitation / Insufficiency: Treatment/Notes
Staging: same as AR
Tx: diuretics, afterload reduction, valve repair/replacement
281
Pulmonic Stenosis: Exam
Systolic @ LUSB
282
Pulmonic Stenosis: Cat
Valvular Disorder
283
Pulmonic Stenosis: Pathophysiology
RV hypertrophies
284
Pulmonic Stenosis: Treatment/Notes
Not very clinically significant (rare), treat with valve repair or replacement
285
Pulmonic Regurgitation: Exam
Diastolic @ LUSB
286
Pulmonic Regurgitation: Cat
Valvular Disorder
287
Pulmonic Regurgitation: Pathophysiology
RV dilates
288
Pulmonic Regurgitation: Treatment/Notes
Not very clinically significant (rare), treat with valve repair or replacement
289
Tricuspid Stenosis: Exam
Diastolic @ LLSB
290
Tricuspid Stenosis: Sign!
JVD
291
Tricuspid Stenosis: Cat
Valvular Disorder
292
Tricuspid Stenosis: Pathophysiology
RA dilates
293
Tricuspid Stenosis: Treatment/Notes
Not very clinically significant (rare), treat with valve repair or replacement
294
Tricuspid Regurgitation: Exam
Systolic @ LLSB
295
Tricuspid Regurgitation: Sign!
JVD
296
Tricuspid Regurgitation: Cat
Valvular Disorder
297
Tricuspid Regurgitation: Pathophysiology
RA, RV dilate
298
Tricuspid Regurgitation: Treatment/Notes
Not very clinically significant (rare), treat with valve repair or replacement
299
Stable Angina: Symptoms
↓ET, chest pain / SOB on exertion
300
Stable Angina: Cat
Coronary Artery Dzs
301
Stable Angina: Pathophysiology AND Etiologies
Mild atherosclerosis → ischemia on exertion
302
Stable Angina: Ddx
DDx: Prinzmetal's (variant) angina, coronary vasospasm
303
Unstable Angina / Non-ST Segment Elevation Myocardial Infarction (UA/NSTEMI): Epi
Age >65, prior CAD, DM, angina, FHx, HTN, smoking
304
Unstable Angina / Non-ST Segment Elevation Myocardial Infarction (UA/NSTEMI): Symptoms
```
Chest pain (angina) / SOB even while at rest, diaphoresis, dyspnea, N/V, palpitations, may be asymptomatic
NSTEMI usually 30
Angina pain = retrosternal pressure/pain ± rad to neck, jaw, arms, ↑with exertion
```
305
Unstable Angina / Non-ST Segment Elevation Myocardial Infarction (UA/NSTEMI): Exam/EKG Findings
Pulse, Lungs, BP
Dyskinetic apical impulse, rales, S4, mitral regurg (papillary muscle dysfunction), ↑BP, HR
306
Unstable Angina / Non-ST Segment Elevation Myocardial Infarction (UA/NSTEMI): Labs
EF v. STEMI?
+Troponins in NSTEMI
-Troponins in UA
Usually lower EF than STEMI at time of presentation
307
Unstable Angina / Non-ST Segment Elevation Myocardial Infarction (UA/NSTEMI): Cat
Coronary Artery Dzs
308
Unstable Angina / Non-ST Segment Elevation Myocardial Infarction (UA/NSTEMI): Pathophysiology AND Etiologies
NSTEMI: partially occlusive thrombus in setting of atherosclerosis (vulnerable plaques are smaller, have ↑lipid + macrophage foam cells, ↓collagen + protein) → ischemia even while at rest; UA is similar, but slowly growing thrombosis
309
Unstable Angina / Non-ST Segment Elevation Myocardial Infarction (UA/NSTEMI): Treatment/Notes
More long-term mortality
Tx: aspirin or anticoag (clopidogrel, heparin), β blockers and Ca+ channel blockers, nitrates, if advanced: stenting/bypass/angioplasty
310
ST Segment Elevation Myocardial Infarction (STEMI): Symptoms
```
Chest pain (angina) / SOB even while at rest, diaphoresis, dyspnea, N/V, palpitations, may be asymptomatic
NSTEMI usually 30
Angina pain = retrosternal pressure/pain ± rad to neck, jaw, arms, ↑with exertion
```
311
ST Segment Elevation Myocardial Infarction (STEMI): Exam/EKG Findings: acute, hours, days, forever
Acute: ST elevation
Hours: ↓R; Q begins
Days: T inversion, deep Q wave, ST normalizes
Weeks: deep Q (permanent)
312
ST Segment Elevation Myocardial Infarction (STEMI): Labs
↑↑Troponin
313
ST Segment Elevation Myocardial Infarction (STEMI): Cat
Coronary Artery Diseases
314
ST Segment Elevation Myocardial Infarction (STEMI): Pathophysiology AND Etiologies
Transmural ischemia, associated with total occlusion of (usually one) artery
315
ST Segment Elevation Myocardial Infarction (STEMI): Treatment/Notes
Lytic by? Balloon by? PPCI by?
More short-term mortality
Tx: same as NSTEMI + thrombolytic drugs, e.g. streptokinase and tPA; ACEis, anticoagulants
Goals: primary percutaneous coronary intervention <6-12 hours, door-to-lytic 30 mins, door-to-balloon 90 mins
316
Acute Pericarditis: Symptoms
Pleuritic chest pain: retrosternal or left-sided, rad to shoulder, neck, left scapula, positional (↓if lean forward), fever, dyspnea
317
Acute Pericarditis: Exam/EKG Findings
Pericardial rub (85%), EKG abnormalities (90%): ST elevation in non-coronary distribution, PR depression, diffuse T inversion
318
Acute Pericarditis: Labs
↑WBCs, ESR, CRP, cardiac enzymes
319
Acute Pericarditis: Cat
Pericardial/Myocardial Dzs
320
Acute Pericarditis: Pathophysiology
Inflammation of pericardium; transudative → exudative effusion → leukocyte infiltration
321
Acute Pericarditis: Etiologies
Most coomon?
Echovirus and Coxsackie B most common; TB, bacteria, lupus, Dressler's syndrome (post-MI), etc.
322
Acute Pericarditis: Treatment/Notes
Tx: NSAIDs (ASA, indomethacin, ibuprofen), colchicine, corticosteroids, targeted therapy vs. underlying cause
Hospitalize if T>38C, subacute, chest trauma, tamponade, pericardial effusion, immunocompromised, myocarditis
323
Pericardial Effusion: Symptoms
Dull left chest discomfort, dysphagia, dyspnea, hiccups, hoarseness
324
Pericardial Effusion: Exam/EKG Findings
↑JVP, distant heart sounds, ↓QRS, Ewart sign: dullness to percussion beneath angle of left scapula
325
Pericardial Effusion: Labs/Imaging
↓BP from ↓CO, >200ccs of fluid on CXR ("water-bottle heart")
326
Pericardial Effusion: Cat
Pericardial/Myocardial Dzs
327
Pericardial Effusion: Pathophysiology
Non-inflammatory serous/chylous fluid in pericardial sac
328
Pericardial Effusion: Etiologies
Pericarditis, trauma, cardiac procedures
329
Pericardial Effusion: Treatment
Pericardiocentesis, treat underlying cause
330
Cardiac Tamponade: Symptoms
Weakness, fatigue
331
Cardiac Tamponade: Exam
Beck's triad: JVD, hypotension, small quiet heart
332
Cardiac Tamponade: Labs/Imaging/BP
↓SV, CO →↑HR, BP
| Pulsus paradoxus: systolic BP falls >10 mmHg on inspiration; Echo: RA collapse
333
Pulsus Paradoxus
systolic BP falls >10 mmHg on inspiration
334
Cardiac Tamponade: Pathophysiology
Severe restriction of cardiac motion due to pericardial effusion
335
Cardiac Tamponade: Etiologies
Severe pericardial effusion, post-MI, hemorrhage
336
Cardiac Tamponade: Treatment/Notes
What happens to diastolic pressure?
Often fatal, treated with pericardiocentesis; ↑diastolic pressure in all chambers
337
Constrictive Pericarditis: Epi
Rare
338
Constrictive Pericarditis: Symptoms
Kussmaul sign: ↑JVP during inspiration
339
Constrictive Pericarditis: Exam/Cath Findings
Rapid y descent (detectable on cath), "Dip and plateau" in RV/LV pressure, early diastolic "knock"
340
Constrictive Pericarditis: Labs/Imaging/BP
CO? Venous filling pressure?
↓CO, ↑venous filling pressure
CT/MRI/CXR: may show thickening
Echo: abnormal septal motion/filling/flow
341
Constrictive Pericarditis: Cat
Pericardial/Myocardial Dzs
342
Constrictive Pericarditis: Pathophysiology
Pericardium becomes fibrotic → diastolic dysfunction
343
Constrictive Pericarditis: Etiologies
Any chronic pericarditis, TB
344
Constrictive Pericarditis: Treatment
Often requires surgical removal of pericardium
345
Myocarditis: Cat
Pericardial/Myocardial Dzs
346
Myocarditis: Pathophysiology
Infection, inflammatory disease, or toxins
347
Myocarditis: Etiologies
Coxsackie B most common viral cause
348
Myocarditis: Treatment/Notes
Treat underlying cause
349
Atrial Myxoma: Symptoms
Often benign; can see emboli, constitutional sx.
350
Atrial Myxoma: Exam
Diastolic murmur possible
351
Atrial Myxoma: Imaging
Often pedunculated
352
Atrial Myxoma: Cat
Pericardial/Myocardial Dzs
353
Atrial Myxoma: Epi
Most common primary cardiac tumor (metastases = most common tumor)
354
Sudden Cardiac Death: Epi
180-250K in US, 55-85yo
355
Sudden Cardiac Death: Exam/EKG Findings
Bradycardia, T wave alternans, acute respiratory failure, risk of PE, CVAs
356
Sudden Cardiac Death: Dx tests
Dx with EKG, echo, exercise test, Holter, electrophysiology tests
357
Sudden Cardiac Death: Cat
SCD
358
Sudden Cardiac Death: Pathophysiology
How long until death?
V.tach→v.fib→asystole, death within one hour of symptoms, no preceding heart failure
359
Sudden Cardiac Death: Etiologies
Post-MI, commotio cordis, congenital, cardiomyopathies, long QT, Brugada
360
Sudden Cardiac Death: Treatment
Tx: treat underlying cause, antiarrhythmics, ICD, catheter ablation
361
Elastin Insufficiency: Symptoms/Path
Peripheral pulmonary stenosis
362
Elastin Insufficiency: Cat
Genetic Diseases
363
Elastin Insufficiency: Pathophysiology
Elastin mutation
364
Alagille Syndrome: Symptoms/Path
Jaundice, stenosis of branched pulmonary arteries
365
Alagille Syndrome: Cat
Genetic Diseases
366
Alagille Syndrome: Pathophysiology
Gene?
JAG1 mutation
367
Noonan/Costello Synd.: Symptoms
Which valve is displastic?
Dysplastic pulmonic valve, HCM, webbed neck, freckles, short
368
Noonan/Costello Synd.: Cat
Genetic Diseases
369
Noonan/Costello Synd.: Pathophysiology
Gene?
PTPN11 mutation (Ras-MAPK pathway)
370
Noonan/Costello Synd.: Epi
Common cause of cardiomyopathy in children
371
Holt-Oram Syndrome: Symptoms
Arm/hand birth defects, ASDs, conduction abnormalities
372
Holt-Oram Syndrome: Cat
Genetic Diseases
373
Holt-Oram Syndrome: Pathophysiology
Gene
TBX5 mutation
374
Neonatal Wolff-Parkinson-White Syndrome (WPW): Symptoms
Short PR, Irregular HR, 11 pairs of ribs, macrocephaly, failure to thrive
375
Neonatal Wolff-Parkinson-White Syndrome (WPW): Cat
Genetic Diseases
376
Neonatal Wolff-Parkinson-White Syndrome (WPW): Pathophysiology
Gene?
20p12.3 de novo mutation → ↓BMP2
377
Marfan's Syndrome: Epi
AD
378
Marfan's Syndrome: Symptoms
Aortic root dilation / dissection, retinal detachment
379
Marfan's Syndrome: Cat
Genetic Diseases
380
Marfan's Syndrome: Pathophysiology
Fibrillin defect → weak connective tissue
381
Marfan's Syndrome: Treatment/Notes
Genetic testing
382
Isolated Hypertrophic Cardiomyopathy: Epi
1/500
383
Isolated Hypertrophic Cardiomyopathy: Symptoms
1st symptom may be SCD (sudden cardiac death)
384
Isolated Hypertrophic Cardiomyopathy: Exam/EKG Findings
HCM
385
Isolated Hypertrophic Cardiomyopathy: Cat
Genetic Diseases
386
Isolated Hypertrophic Cardiomyopathy: Pathophysiology
Gene?
Sarcomeric genes (Beta-myosin heavy chain, myosin-binding protein C, cardiac troponin T)
387
Isolated Hypertrophic Cardiomyopathy: Epi
Most common genetic cardiac disease, most common cause of SCD in children
388
Familial Dilated Cardiomyopathy: Exam/EKG Findings
DCM
389
Familial Dilated Cardiomyopathy: Cat
Genetic Diseases
390
Familial Dilated Cardiomyopathy: Pathophysiology AND Etiologies
Gene?
Diverse genes, some overlap with HCM; LMNA associated with conduction disorders
391
Familial Dilated Cardiomyopathy: Associated w/
May be associated with muscular dystrophy
392
Arrhythmogenic RV Cardiomyopathy (ARVC): EKG Findings
V.Tach, LBBB
393
Arrhythmogenic RV Cardiomyopathy (ARVC): Cat
Genetic Diseases
394
Arrhythmogenic RV Cardiomyopathy (ARVC): Pathophysiology
Fibro-fatty replacement of RV myocardium
395
Familial Long QT Syndrome: Epi
1/3-5K, AD (AR form also)
396
Familial Long QT Syndrome: Symptoms
Pre-syncope, syncope, death, deafness (in AR version)
397
Familial Long QT Syndrome: EKG Findings
QTc > 440ms, Torsades de pointes → polymorphic v.tach (v.tach + intermittent sinus)
398
Familial Long QT Syndrome: AR version
Deafness
399
Familial Long QT Syndrome: Pathophysiology
Gene?
SCN5A GOF or KCN LOF mutations → ↓K channel activity or ↑Na channel activity
400
Familial Long QT Syndrome: Etiologies AND Treatment
Three Classes
Type I: emotion, physical activity triggers (BBs, avoid sports)
Type II: sounds during sleep/rest (avoid ↓K+, loud noises)
Type III: most severe, during sleep or rest (mexiletine/flecainide, pacing, AICD)
401
Brugada Syndrome: Epi
M>F, AD
402
Brugada Syndrome: Symptoms
V.fib, SCD
403
Brugada Syndrome: EKG Findings
RBBB, ↑ST in V1-V3
404
Brugada Syndrome: Cat
Genetic Diseases
405
Brugada Syndrome: Pathophysiology AND Etiologies
Defect?
Mutation in Na + K channels
406
Brugada Syndrome: Treatment/Notes
Usually during sleep; Tx: defibrillator
407
Catecholaminergic Polymorphic V.Tach : Symptoms
Bi-directional polymorphic VT with exercise, stress; can lead to ventricular arrhythmias, cardiac death
408
Catecholaminergic Polymorphic V.Tach : Cat
Genetic Diseases
409
Catecholaminergic Polymorphic V.Tach : Pathophysiology AND Etiologies
Gene?
RyR2, calsequestrin mutations; 30% mortality by 30yo
410
Catecholaminergic Polymorphic V.Tach : Treatment/Notes
Tx: beta blockers, AICD
411
Ventricular Septal Defect (VSD): Epi
1/500
412
Ventricular Septal Defect (VSD): Symptoms
Asymptomatic @ birth → CHF (rales, hepatomegaly, S3)
413
Ventricular Septal Defect (VSD): Exam Findings
Holosystolic murmur @ LLSB, mid-diastolic rumble, LV heave
414
Ventricular Septal Defect (VSD): Labs/Imaging
↑O2 in RV; LV dilation, pulmonary vascular disease
415
Ventricular Septal Defect (VSD): Cat
L→R Shunts
416
Ventricular Septal Defect (VSD): Pathophysiology AND Etiologies
Hole between ventricles → pulmonary HTN, Eisenmenger's; severity depends on size, pressure difference
417
Ventricular Septal Defect (VSD): Treatment
May self-resolve (50%), if not: digoxin, furosemide, ↑caloric intake, catheter, surgery ± endocarditis prophylaxis
418
Patent Ductus Arteriosus (PDA): Epi
1/2500-5000
419
Patent Ductus Arteriosus (PDA): Symptoms
R-sided HF from ↑PA pressure
420
Patent Ductus Arteriosus (PDA): Exam
Continuous machine-like murmur @ left infraclavicular region (Gibson's murmur)
421
Patent Ductus Arteriosus (PDA): Cath/Imaging
Cardiomegaly, cath: O2 stepup in PA
422
Patent Ductus Arteriosus (PDA): Cat
L→R Shunts
423
Patent Ductus Arteriosus (PDA): Pathophysiology
Blood flows from aorta to pulmonary artery
424
Patent Ductus Arteriosus (PDA): Etiologies
Prematurity, rubella, ↑altitude
425
Patent Ductus Arteriosus (PDA): Treatment/Notes
Indomethacin (since prostaglandins keep the ductus open), surgical ligation, transcatheter closure; mnemonic: "a PDA is a machine"
426
AV Canal Defect (AVC): Symptoms
Rapidly developing HF
427
AV Canal Defect (AVC): Exam Findings
L→R shunt, pulmonary HTN, AV insufficiency
428
AV Canal Defect (AVC): Cat
L→R Shunts
429
AV Canal Defect (AVC): Pathophysiology
ASD, VSD + common AV valve
430
AV Canal Defect (AVC): Seen with
Often seen with Down's syndrome
431
AV Canal Defect (AVC): Treatment
Surgery within 6 months (ASD+VSD closure, repair of AV valves)
432
Atrial Septal Defect (ASD): Epi
1/1500
433
Atrial Septal Defect (ASD): Exam/Imaging
↑O2 in right side of heart, split S1, side fixed split S2, RV heave, systolic murmur @ LUSB, diastolic murmur @ LLSB, cardiomegaly, RAD/RVH/RBBB, O2 stepup in RA
434
Atrial Septal Defect (ASD): Cat
L→R Shunts
435
Atrial Septal Defect (ASD): Pathophysiology AND Etiologies
Hole between atria; types: ostium secundum, ostium primum, sinus venosus, coronary sinus, PFO
436
Atrial Septal Defect (ASD): Treatment
Close using surgery or catheter-delivered device
437
Eisenmenger's Syndrome: Symptoms AND Exam
CHF initially improves, then cyanosis, hemoptysis, clubbing, loud S2, JVP a wave pulsations, as R→L shunt develops, clear lungs
438
Eisenmenger's Syndrome: Cat
L→R Shunts
439
Eisenmenger's Syndrome: Pathophysiology AND Etiologies
RVH from increased pressure converts any L→R shunt to R→L shunt
440
Eisenmenger's Syndrome: Treatment/Notes
Tx: pulmonary vasodilators, anticoag, inotropes, do NOT close (can→RV failure)
441
Persistent Pulmonary HTN of Newborn (PPHN): Symptoms AND Exam/EKG Findings
Cyanosis, low APGAR, neonatal asphyxia, maternal infection
442
Persistent Pulmonary HTN of Newborn (PPHN): Cat
R→L Shunts
443
Persistent Pulmonary HTN of Newborn (PPHN): Pathophysiology
Pulmonary vasculature fails to relax, R→L shunting at FO and DA
444
Persistent Pulmonary HTN of Newborn (PPHN): Treatment
Tx: nitrous oxide, ECMO heart-lung bypass
445
Pulmonic Stenosis (PS): Exam Findings
Cyanosis, LUSB systolic ejection murmur
446
Pulmonic Stenosis (PS): Cat
R→L Shunts
447
Pulmonic Stenosis (PS): Pathophysiology
PV stenotic → RVH
448
Pulmonic Stenosis (PS): Treatment
Tx: balloon valvuloplasty vs. surgery
449
Pulmonary Atresia : Symptoms AND Exam Findings
Cyanosis, LLSB holosystolic murmur
450
Pulmonary Atresia : Imaging
Black lungs on CXR
451
Pulmonary Atresia : Cat
R→L Shunts
452
Pulmonary Atresia : Pathophysiology AND Etiologies
PV doesn't open at all → R→L via PFO, blood to lungs via ductus arteriosus
453
Pulmonary Atresia : Treatment
Keep ductus arteriosus open with prostaglandins until surgery
454
Tricuspid Atresia: Exam/Imaging/Comorbidity
Cyanosis, systolic murmur, small RV, often have VSD, 25% have TGA
455
Tricuspid Atresia: Cat
R→L Shunts
456
Tricuspid Atresia: Pathophysiology AND Etiologies
Closed TV, R→L via FO
457
Tricuspid Atresia: Treatment/Notes
Fontan procedure (bypass RV)
458
Tetralogy of Fallot: Symptoms
Cyanotic spells ("Tet spells"), SOB
459
Tetralogy of Fallot: Exam
Systolic ejection murmur @ LUSB
460
Tetralogy of Fallot: Imaging/Comes with
DiGeorge (25%); CXR: "boot-shaped heart"
461
Tetralogy of Fallot: Cat
R→L Shunts
462
Tetralogy of Fallot: Pathophysiology
Malalignment of IV septum leads to: VSD, overriding aorta, RVH, pulmonic stenosis
463
Tetralogy of Fallot: Treatment
Children will squat to ↑TPR + ↓R→L shunt; surgery to definitively correct
464
Truncus Arteriosus : Exam/comes with
Dysplastic valves, cyanosis, regurg murmur, DiGeorge (25%), pulm HTN
465
Truncus Arteriosus : Cat
Pulm/Sys Mixing
466
Truncus Arteriosus : Pathophysiology
Aorta fused with pulmonary artery + VSD
467
Truncus Arteriosus : Treatment
Surgical repair in infancy
468
Total Anomalous Pulmonary Venous Return: Symptoms/Imaging
Cyanosis, respiratory distress, CXR white out w/small heart, pulmonary congestion, death
469
Total Anomalous Pulmonary Venous Return: Cat
Pulm/Sys Mixing
470
Total Anomalous Pulmonary Venous Return: Pathophysiology
Pulmonary veins return to the right heart → R→L shunt @ atria, mixing of blood
471
Total Anomalous Pulmonary Venous Return: Treatment
Surgical repair
472
Transposition of Great Arteries (TGA): Symptoms/Exam
Murmur?
When are symptoms better?
Cyanosis but no murmur, symptoms better if VSD/ASDs (get more mixing)
473
Transposition of Great Arteries (TGA): Cat
Pulm/Sys Mixing
474
Transposition of Great Arteries (TGA): Pathophysiology
Aortic, pulmonic arteries connect to wrong ventricles, 2 parallel loops form
475
Transposition of Great Arteries (TGA): Treatment
Keep DA open with prostaglandins → balloon atrial septostomy, surgical switch
476
Hypoplastic Left Heart Syndrome: Symptoms AND Exam
Murmur?
Mitral + aortic atresia, no murmur, cyanosis, poor pulses
477
Hypoplastic Left Heart Syndrome: Cat
Pulm/Sys Mixing
478
Hypoplastic Left Heart Syndrome: Pathophysiology
What does aorta look like?
"Shoestring aorta," left side of heart too small/absent, L→R shunt at PFO
479
Hypoplastic Left Heart Syndrome: Treatment
Prostaglandins, surgery
