Diseases for Quiz 5 (final week)

Question 1

Iron Overload Cardiomyopathy

Answer 1

Heriditary of transfusional hemachromatosis

Chronic/years long accumulation of excess iron (hemosiderin) in heart, liver, lungs, endocrine glands, joints, skin

Clinical sequelae: cardiomyopathy/heart failure (usually dilated type +/- conduction disturbance, cirrhosis/hepatoma, endocrine dysfunction (diabetes), arthritis, and skin darkening (bronze diabetes)

Excess hemosiderin induces myocyte toxicity and secondary fibrosis.

Dx: >45% transferrin sat, HFE gene mutation, hepatic iron index (liver biopsy)

Rx: phelbotomy

Question 2

Cardiomyopathy due to cardiotoxic drugs

Answer 2

Especially secondary to anthracycline (doxo and daunorubicin) dose-dependent myocyte toxicity.

May resolve post drug cessation

Can cause dilated or restrictive CM w/ HF

Question 3

Amyloidosis

Answer 3

Usually systemic deposition of amorphous proteinaceous substance.

CONGO RED positive

Clinical: CHF, nephrotic syndrome and peripheral neuropathy.

Typically primary (AL.monoclonal protein/derived –> multiple myeloma)

If transthyretin-derived: may be genetic/heart limited.

Typically restrictive CM w/ low EKG voltage.

Dx: tissue biopsy

Question 4

Myocarditis

Answer 4

Myocardial inflammation associated w/ normal-sized or dilated heart.

Multiple causes:

Infection- viral most common in US (adenovirus/coxsackie B, adeno, parvo) Also lymes in endemic areas.

Chagas in developing world

Immune mediated: RF, post viral infection, SLE polymyositis (libman sacks), heart transplant rejection. a

Unknown cause: Sarcoidosis, giant cell myocarditis

Clincal: Acute HF w/ viral prodrome. May also have chest pain, arrhythmia, sudden death

Common cause of HF in children

Cardiac enzymes may be increased.

Rx: supportive Rx for HF and rate/rhythm control. LVAD if severe. Many will improve gradually w/ or w/o Rx.

Question 5

Acute pericarditis

Answer 5

Most common pericardial disorder

Developed countries: viral –> usually self-limited course

Developing countries: HIV/AIDS and TB

Clincal features: Chest pain (>95%) typically sharp and pleuritic (lessened by sitting/leaning forward)

Pericardia friction rub

EKG w/ new widespread ST elevation

Pericardial effusion present in 60% of cases

Rx: bed rest and anti-inflammatory drugs

Question 6

Chronic/recurrent pericarditis

Answer 6

May require pericardial surgical window (pericardiectomy) or installation of sclerosing agents to obliterate pericardial space.

May result in chronic constrictive pericarditis. –> impaired vent filling caused by thick scar. (sx = HF (often right) / mimic restrictive CM.

Pathology:
-Fibrinous/serofibrinous: serous fluid and fibrinous exudate is most common
-Hemorrhagic (malignancy is first consideration)-
Granulomatous (TB)
-myopericarditis (can have elevated troponin levles

Question 7

Myxoma

Answer 7

Commonest primary heart neoplasm. Most commonly found in atria (left).

Sx: from mechanical blockage of AV valves or embolization

Dx: ECHO

Rx: Surgical excision

Question 8

Rhabdomyoma

Answer 8

Commonest primary cardiac neoplasm in children particularly those w/ tuberous sclerosis.

Question 9

Eisenmenger’s Syndrome

Answer 9

Untreated Large L –> R shunt. Eventual extreme pulmonary HTN which reverses the flow and generally causes death.

Question 10

Pulmonary stenosis/atresia

Answer 10

Isolated or part of TOF

RV hypertrophy or hypoplasia

PDA may be vital to survival until surgical repair (PGE1)

Question 11

Aortic stenosis/atresia

Answer 11

severe disease: LV hypoplasia (hypoplastic left heart syndrome –> incompatible with life)

PDA may be vital to survival until surgical repair (PGE1)

Question 12

Sudden Cardiac Death

Answer 12

85% due to atherosclerotic CAD or diagnosiable cardiomyopathy

5-10% of older adults w/ sudden presumed cardiac death: negative for any compelling gross or microscopic cardiac pathology

Young athletes: hypertrophic cardiomyopathy

Children: myocarditis and coronary artery abnormalities (arise from wrong cusp –> ischemia)

LongQT
Brugada syndrome
Catecholaminergic polymorphic ventricular tachycardia
commotio cordis = ventricular dysrhythmia due to blunt chest trauma
Fright response = vfib due to overwhelming symp discharge

Question 13

Hypertension ***

Answer 13

Affects up to 30% of adult U.S. population.

Affecting small muscular arteries –> hyaline arteriolosclerosis (benign HTN) or hyperplastic arteriolosclerosis/fibrinoid (malignant HTN)

95% essential (multifactorial/familial causation)

If untreated 50% mortality from ischemic heart disease or CHF and 33% mortality from stroke

5% have secondary/potentially reversible disease (especially renal disease and adrenal/endocrine disorders)

Question 14

Secondary HTN ***

Answer 14

5% of HTN –> don’t want to miss!

Clues:

• severe HTN despite multiple antihypertensive agents used
• Acute BP rise in patient w/ previously stable BP
• Age

Question 15

Fibromuscular dysplasia (FMD) ***

Answer 15

Narrowing of medium-sized arterial lumens by usually medial fibroplasia of unknown cause esp. affecteing RENAL and CEREBRAL vessels

Young to middle aged women

String of beads angiographic appearance from alternating fibromuscular webs/stenosis and aneurysmal dilations

Found in workup from renovascular HTN or cerebrovascular disease.

Dx: Bruits on physical exam,

Rx: revasculazation surgery/ angioplasty

KEY POINT: consider FMD in any young adult w/ refractory or malignant HTN or stroke.

Question 16

Cushing’s syndrome

Answer 16

AKA hypercortisolism.

Cause of secondary HTN

From Rx, paraneoplastic, etc.

Question 17

Pheochromocytoma

Answer 17

NE secreting tumor

paroxysmal HTN w/ headaches, palpitations, diaphoresis

Question 18

Primary Aldosteronism

Answer 18

Increased mineralocorticoid states:

Lab clues: HYPOKALEMIA (less than 50%); plasma aldoseterone/renin ratio.

Question 19

Hypertension Encephalopathy

Answer 19

Loss of autoregulation of cerebral blood flow:

• vasodilation and HTN
• endothelial injury (fibrinoid necrosis)
• lumen obliteration causing cerebral edema
• headache, N/V, focal neurological signs, mental status changes, then: STUPOR, COMA, SEIZURES, DEATH

Question 20

HTN end-organ pathology

Answer 20

• LVH
• CHF and sudden death
• Increased risk of CAD
• Stroke
• Microvascular aneurysm rupture (hemorrhage in deep white matter, basal ganglia or brainstem = most lethal CNS vascular event
• Large vessel or lacunar infarct
• HTN encephalopathy
• Renal disease (two mechanisms –> lumen stenosis, loss of renal blood flow autoregulation: hyperperfusion –> glomerulosclerosis from malig HTN)

Question 21

Diabetic Vascular Implications ***

Answer 21

Magnifies vascular morbidity

• increases large vessel atherosclerotic risk
• has synergistic effects w/ HTN in arteriolar lumen (non-enzymatic glycosylation w/ protein migration

Common cause of non-bypassable PAD

Skin ulceration w/ secondary infx (MRSA) w/ frequent bone involvement (osteomyeltis) and commonly distal leg infarction = gangrene

Diabetic retinopathy, nephropathy, neuropathy

Question 22

Calciphylaxis

Answer 22

Systemic calcification of arterioles w/ intimal fibrosis and lumen obstruction

Typically uremic patients (ESRD)

Causing painful ischemic skin necrosis and secondary ulceration.

Rx: skin debridement - aim to keep Ca x P less than 55 and normalize PTH levles

*almost always dialysis patients

Question 23

Type A Aortic Dissection

Answer 23

Ascending aorta (+/- involvement of arch/descending aorta)

Majority of dissections

Debakey I ( ascending + arch & descending)
Debakey II (Ascending only)

Rx: surgery ASAP

Question 24

Type B Aortic dissection

Answer 24

Descending throracic aorta and/or the arch

Debakey III (Descending/arch only)

Medical management possible

Question 25

Vasculitis ***

Answer 25

Vascular Wall inflammation -ischemic effects often in multiple organ systems (abdominal pain, HTN or renal insufficiency w/ hematuria, leukocyturia, cutaneous rash -palpable purpura, neurologic/opthalmic sx) - often w/ consitutionals sx (fever, malaise, myalgias, arthralgias - overall sx often non-specific (ddx infx, coagulopathyies, neoplasms, drug toxicity, atheroembolism, amyloidosis, migraine) - mononeuritis mulitples (asymmetric polyneuropathy) Diseases: - ANCA mediated (wegener's, microscopic polyangiitis, Churg-strauss syndrome) - -Giant cell arteritis - Takayasu arteritis - Kawasaki disease

Question 26

Takayasa arteritis

Answer 26

Granulomatous vasculitis affecting large/medium sized arteries especially aortic arch and branch vessels. Causes lumenal stenosis w/ downstream ischemic effects (weak arm pulses/claudication/raynaud's, neuro/ocular sx, abdominal pain, HTN/renal failure, leg claudiction) Prefers adolescent/young adult women AKA aortic arch syndrome or pulseless disease Chronic/relapsing w/ risk of stroke, CHF, MI, renal failure, aneurysm rupture Rx: glucocorticoids (+/-MTX) ddx: fibromuscular dysplasia

Question 27

Giant Cell Arteritis ***

Answer 27

Aka temporal arteritis Most common vasculitis in the elderly in U.S. (esp. Scandanavians) Affects medium and large arteries especially the extracranial carotid system Feared complication = VISION LOSS from ischemic optic neuropathy Dx: age > 50 years, localized headache of new onset, tenderness/decreased pulse over temporal artery, ESR > 50 (often >100) --> temporal artery Bx Other sx: jaw claudication, aortic arch involvement, systemic sx, POLYMYALGIA RHEUMATICA (40-50% of GCA patients), aortic aneurysm Rx: Corticosteroids (initiate before Bx in suspected cases w/ ocular sx!

Question 28

Polyartertis Nodosa

Answer 28

Very uncommon Segmentally affecting medium to small arteries Neutrophilic vasculitis w/ aneurysm formation Systemic vascultiis chiefly affecting: kidney, heart, GI, liver (30% of cases associated w/ Hep. B) Young adults favored Sx: - malaise, myalgias, fever, weight loss - typically HTN - abdominal pain/GI bleeding - skin rash, neuropathy, renal failure, testicular pain Untreated: fatal in most cases (bowel infarction/perf or HTN cardiovascular disease) Dx: biopsy of involved organs, arteriography, no serological dx Rx: corticosteroids/cyclophosphamide (cytoxan)

Question 29

Kawasaki Disease ***

Answer 29

Mucocutaneous lymph node syndrome Acute febrile illness of children (asians 3% death rate) Leading cause of acquired heart disease in children Clinical dx: bilateral conjunctival injection, oral mucous membrane changes, palmar/plantar erythema, polymorphous skin rash, cervical lymphadenopathy Rx: IVIG + aspirin

Question 30

Leukocytoclastic (cutaneous) vasculitis ***

Answer 30

Neutrophilic small vessel vasculitis MOST COMMON vasculitis in clinical practice Palapable purpura: classically involving lower extremeties +/- mroe extensive skin eruption (palpable bumps = vasculitis; smooth = petichiae) 70% of cases: two categories - transient , benign --> hypersensitivity rxn to a drug or anigen +/- serum sickness - skin manifestation of systemic vasculitis: caused by either INFECTION, or any of the vascultis syndromes except takayasu, GCA, or Kawasaki 23%infx, 20% drug, 12% CTD, 4%malignancy, 4% primary systemic vascultitis, 30% idiopathic

Question 31

Henoch-Schonlein Purpura

Answer 31

cutaneous/leukocytoclastic vasculitis with IgA deposition in patients

Question 32

Cryoglobulinemic Vasculitis ***

Answer 32

Cryglobulins = measureable cold-precipitated immunoglobulins. predominantly monoclonal protein --> waldenstrom's or mult. myeloma Predominantly polyclonal immunoglobulin type --> chronic/ai inflammatory diseases (SLE, Sjogren's) and viral infx (hep C) Hepatitis C = most common cause of cryoglubulinemia Cutaneous vasculitis present in nearly all patients Associated sx: arthralgias, myalgias, weakness, neuropathy, and 10-30% w/ glomerulonephritis = poor prognosis

Question 33

Anti-neutrophil cytoplasmic antibody (ANCA) ***

Answer 33

Wegener's granulomatosis or Microscopic polyangitis Common cause of pulmonary renal syndrome: pulmonary infiltrates/nodules (often w/ hemoptysis) and glomerulonephritis - w/ hematuria/proteinuria ddx: Wegener's, microscopic polyangiitis, goodpasture's syndrome, and SLE

Question 34

Wegener's Granulomatosis ***

Answer 34

Systemic largely small vessel vasculitis associated w/ tissue necrosis and focal giant cell/granuloma formation Classic triad of involvement: 1. )ENT disease (95%)- nasal/sinus sx- sinusitis, mucosal ulceration, etc. 2. ) Pulmonary disease (90%) - pulmonary nodules/infiltrates +/- cough, dyspnea, hemoptysis 3. ) Kidney disease (80%) - often rapidly progressive glomerulonephritis w/ threat of ESRD 90% c-ANCA positive Dx: tissue biopsy Rx: corticosteroids + cyclophosphmide

Question 35

Microscopic Polyangiitis ***

Answer 35

Likely a part of a disease spectrum w/ wegener's Systemic vasculitis primarily affecting kidneys (80%) Typically acute presentation w/ renal failure Dx: ANCA positive in 75%, renal Bx Rx: corticosteroids + cyclophosphamide

Question 36

Churg-Strauss Syndrome

Answer 36

AKA allergic angiitis and granulomatosis Rare systemic vasculitis associated w/ SEVERE ASTHMA. 50% ANCA positive Rx: glucocorticoids

Question 37

Misc. Small Vessel Vasculitis ***

Answer 37

Connective tissue disease associated (SLE, RA, myositis, relapsing polychondritis, Sjogren's) Drug induced (may be ANCA positive) Infx: esp. rickettsial disease)

Question 38

Thromboangiitis Obliterans (Buerger's Disease)

Answer 38

Distal extremity arteritis in heavy cigarette smokers (usually males may progress to ulceration, gangrene, amputation Rx: Smoking cessation

Question 39

Varicose veins ***

Answer 39

Superficial veins of upper and lower legs 15% of adult males; 30% of adult females Venous valve failure due to: - leg dependency for prolonged periods - obesity - pregnancy - familial tendency Stasis dermatitis = congestion, edema, thrombosis, pain, chronic ulceration: rare risk for embolism

Question 40

Hemorrhoids

Answer 40

anorectal venous plexus engorgement Can be complicated by: inflammation, thrombosis/ulceration Associated w/ constipation/straining and pregnancy

Question 41

Esophageal varices ***

Answer 41

Potentially fatal venous engorgement: Secondary to portal HTN (cirrhosis, portal vein thrombosis, hepatic vein thrombosis(Budd-Chiari syndrome)). Increased portal venous pressure: opens porto-systemic shunts causing esophago-gastric varices Risk of massive/fatal GI bleeding

Question 42

Deep Vein Thrombosis (DVT)

Answer 42

Ileofemoral >90% of DVT cases First clinical sx may be fatal PE +/- unilaterally swollen/tender leg Virchow's triad: Associated w/ variable combinations of impeded venous circulation (stasis) vs. hypercoag vs. endothelial injury/dysfunciton Risk factors: prolonged immobilization/post-op, CHF, obesity, pregnancy, injured endothelium (inflammation/sepsis), systemic hypercoaguability (DIC, factor V leiden) Dx: venous US w/ doppler, chest CT angio if PE suspected. Well's score = risk stratification Non PE complications: post thrombotic/thrombophlebetic syndrome or visceral infarction (esp. bowel and brain) Many people w/ DVT have both acquired and congenital risk factors for hypercoaguability.

Question 43

Disseminated Intravascular Coagulation (DIC)

Answer 43

Acute DIC w/ systemic microvascular thromboses Chronic DIC w/ usually localized DVTs Multiple causes: sepsis, cancer (esp. lung/pancreas), neoplastic hemic disease (AML/M3 and chronic myeloproliferative syndromes), AI diseases, antiphospholipid antibodies Trousseau's sign = recurrent thrombosis despite ongoing anti-coag --> CANCER

Question 44

Congential Hypercoaguability

Answer 44

Factor V leiden, prothrombin gene mutation, deficiencies in factors C, S, or antithrombin III Suspect if unprovoked thrombis occurs in patient

Question 45

Post thrombotic/thrombophelbitic syndrome

Answer 45

Post DVT - Chronic venous insufficiency (from valve destruciton - Often severe stasis dermatitis sequelae - usually due to inadequate course of anti-coag w/ inadequate clot lysis

Question 46

Hemangiomas

Answer 46

Commonest vascular neoplasm. Benign - Dominantly perfer the skin (cherry/purple papules) - May involve any visceral organ: but favors liver, spleen, soft tissue Pyogenic granuloma - rapidly growing/friable capillary hemangioma in response to trauma

Question 47

Lymphangioma

Answer 47

Uncommon w/ largest examples most frequent in neck/axilla of young children (cystic hygroma)

Question 48

Glomus tumor

Answer 48

Glomus cell proliferation associated w/ vascular channels: Painful small tumors of distal digits.

Question 49

Bacillary angiomatosis

Answer 49

Vascular proliferation associated w/ Bartonella infection (i.e. cat scratch species in immunosuppressed patients (esp. HIV) Often mis dx w/ Kaposi's sarcoma

Question 50

Kaposi's sarcoma

Answer 50

Malignant vascular proliferations w/ skin +/- visceral involvemtn. Associated w/ HHV-8 3 populations: 1. ) HIV/AIDS 2. ) Transplant 3. ) Eastern European Men

Question 51

Angiosarcoma

Answer 51

Aggressive malignant vascular neoplasia. Reddish/purple lesions in skin w/ hematogenous metastases. Patients w/ chronic lymphedema: incresaed risk of angiosacroma (i.e. post mastectomy) Axillary dissection patients = Stewart-Treves Syndrome

Question 52

Aortic Stenosis

Answer 52

Early to mid-systolic Heard best over the base and tends to radiate to the carotids. Crescendo-decrescendo Late stages may have decreased systolic pressure and slow carotid upstroke Etiology - degenerative calcific, rheumatic, bicuspid (40s and 50s) Pathology - pressure gradient over 50 mm or valve area represents critical obstruction Sx: Angina, Syncope, DOE Rx: Valve replacement

Question 53

Mitral Insufficiency (Regurgitation)

Answer 53

Holocystolic Heard best at the apex and radiates to the axilla Etiology: Acute MI w/ papillary muscle dysfunciton (supplied by RCA), rheumatic heart disease, congential, endocarditis, calcification w/ age. Sx: Acute: pulmonary edema, SOB Chronic: severe fatigue, a fib (secondary to atrial enlargement) Rx: treat CHF, Afib. Surgery for patients w/ severe MR w/ limitations

Question 54

Mitral Stenosis

Answer 54

Diastolic murmur heard best at apex w/ patient in left lateral recumbent position. Low pitch rumble Opening snap precedes murmur Etiology - most a rheumatic (can be silent until excacerbated by pregnancy or other stresses) Sx: DOE, cough, hemoptysis, arterial embolism Rx: antibiotic prophylaxis, CHF, AFIB, Valve replacement

Question 55

Aortic Insufficiency

Answer 55

High ptiched diastolic murmur heard best at the base. Best heard w/ patient sitting. Increased PP--> secondary to regurge and increased SV --> bounding pulses --> quincke's pulse (nail bed) Etiology: 2/3 rheumatic, endocarditis, trauma (airbag) Pathology --> increased SV --> deterioation of LV function --> sx Sx: Asymptomatic for year. Uncomfortable awareness of heartbeat when lying down. Exertional dyspnea first sx followed by orthopnea and PND. Angina. CHF. Rx: Difficult to time

Question 56

Mitral Valve Prolapse (click-murmur syndrome

Answer 56

Mid or late systolic click May be followed by a a high pitched late systolic murmur, heard best at apex Etiology: Very common. Congenital or genetic. Females between 14-30. Pathophys: myxomatous degeneration of posterior leaflet. Usually benign, but may trigger arrhythmias Rx: reassurance

Question 57

Tricuspid stenosis

Answer 57

Rare Associated w/ mitral stensois Giant A wave in the neck Diastolic at LLSB

Question 58

Tricuspid regurge

Answer 58

Functional from RV dilation. Sign of right sided HF. Holocystolic murmur at LLSB Prominent v waves of neck.

Question 59

Pulmonic stenosis

Answer 59

Usually preceded by ejection click. Midsytolic murmur at left 2nd and 3rd interspaces. Benign in young people.

Question 60

Innocent murmurs

Answer 60

Always systolic ejection in nature Occure w/o evidence of phsyiologic abnormalities Grade I or II No thrills or radiation End well before S2 Found in 30-50% of children

Question 61

Leriche syndrome (aortoiliac obstructive disease)

Answer 61

fatigue of both lower extremities erectile dysfunction pallor and global atrophy of both lower extremities