Test 2 Flashcards
1
Q
What are the genetic factors of congenital heart dz?
A
trisomies 13, 15, 18, 21, and Turner’s Syndrome (monosomy X)
2
Q
What is the relative incidence of congenital heart dz?
A
- ventricular septal defects: 25-30%
- atrial septal defects: 10-15%
- patent ductus arteriosus: 10-15%
- tetralogy of Fallot: 6%
- pulmonary stenosis: 6%
- coarctation of the aorta: 6%
- aortic stenosis: 6%
- complete transposition of the great arteries: 6%
3
Q
Which congenital heart dz’s present with a/cyanosis?
A
- acyanotic: patent ductus arteriosus, atrial septal defect (PFO), ventricular septal defect
- cyanotic: tetralogy of Fallot, pulmonary stenosis, transposition of great arteries
- cyanosed tardive: an initial L-to-R shunt with late reversal of flow
4
Q
What are atrial septal defects?
A
- primum: adjacent to AV valves, leads to cleft mitral valve defect
- secundum: fossa ovalis defect, m/c (90%)
- complications: atrial arrhythmias, pulmonary hypertension, R ventricular hypertrophy, heart failure, thrombo-emboli
5
Q
What are ventricular septal defects?
A
- m/c congenital heart defect, often occurring with tetralogy of Fallot
- NO cyanosis as long as L side pressure is higher than the R
- increased blood flow to R ventricle results in thickening of pulm aa, increased vascular resistance, and reversal of shunt (Eisenmenger complex) => cyanosis
- complications: infective endocarditis, paradoxical emboli, aortic valve cusp prolapse
6
Q
What is patent ductus arteriosus?
A
- shunting of blood from aorta to pulm aa results in pulmonary hypertension
- features: mostly asymptomatic but presence of harsh murmur, common with Down syndrome, and in premature infants or those whose mothers were infected with rubella early in pregnancy
7
Q
What is tetralogy of Fallot?
A
- m/c cause of cyanotic congenital heart disease
- cardiac features: pulmonary stenosis, ventricular septal defect, dextro-position of the aorta, R ventricular hypertrophy = boot shape
- clinical features: cyanosis (Tet spell during crying or feeding), fingertip clubbing
- complications: cerebral thrombosis, bacterial endocarditis, brain abscesses
8
Q
What is transposition of great vessels?
A
- aorta arises from RV, pulmonary trunk from LV
- almost all infants have ASD, two-thirds have PDA, and half have VSD
- 90% die in first yr b/c deox blood from RV goes to aorta
- m/c in males, cause is usually idiopathic, present with cyanosis
9
Q
What is coarctation of the aorta?
A
- local constriction that occurs immediately below the origin of the L subclavian a. at the site of the ductus arteriosus
- m/c in males, or females with turner’s syndrome
10
Q
What are the clinical features of coarctation of the aorta?
A
- hypertension in upper part of body
- L ventricular hypertrophy
- increased pressure increases risk of Berry aneurysm and subarachnoid hemorrhage
11
Q
What is stenosis/atresia?
A
- pulmonary stenosis/atresia: hypoplastic RV with ASD
- aortic stenosis/atresia: valvular => hypoplastic LV; sub-valvular (subaortic) => aortic thickening below the cusps; supra-valvular => aortic thickening above the cusps
- complications: Eisenmenger syndrome (cyanotic heart dz)
12
Q
What are the functions of the endothelial cells of the blood vessels?
A
- act as a permeability barrier
- vasoactive factors (NO, endothelin)
- antithrombotic agent production (PG12)
- anticoagulant production (thrombomodulin)
- fibrinolytic agent production (plasminogen)
- procoagulant production (von Willebrand factor)
- inflammatory mediator production (IL-1)
- growth factor production (growth factors)
- growth inhibition (heparin replication)
13
Q
What is arteriosclerosis?
A
- any dz process that hardens arteries
- atheroma: fibro-inflammatory-lipid plaque accumulating in lrg or med aa. intimal layer
- complications: ischemic heart dz, MI, stroke, extremity gangrene
14
Q
How do atherosclerotic plaques form?
A
- m/c b/c of oxidative stress
- inflammation increases permeability
=> angiotension 2 receptor increases cell adhesion
=> monocytes infiltrate endothelium and transform into macrophages
=> macrophages accumulate, engulf lipids, and turn into foam cells
=> smooth mm proliferation and deposition of collagen and lipids alters the arterial wall
15
Q
What is vasculitis?
A
- inflammation of vessel walls, usually arteries
- symptoms: fever, malaise, myalgia, arthralgia
- can be infective d/t neisseria, rickettsia, syphilis, varicella, or hep B
- can be d/t to immunological injury like serum sickness, autoimmune conditions, Wegener’s granulomatosis, Goodpasture syndrome, or Kawasaki dz
16
Q
What is polyarteritis nodosa?
A
- transmural inflammation of the arterial wall
- necrotizing vasculitis of organs with prominent renal involvement, also fever and weight loss
- m/c in young adults in the medium-sized vessels
- morphology: fibrinoid necrosis in affected artery, also present are leukocytes and plasma cells
17
Q
What is Kawasaki dz?
A
- acute necrotizing vasculitis of infancy and early childhood
- symptoms include high fever, rash, conjunctival and oral lesion, lymphadenitis, strawberry tongue
18
Q
What is Wegener’s granulomatosis?
A
- systemic necrotizing vasculitis of small vessels
- m/c in men in the fifth and sixth decades of life
- presents with granulomatous lesions of the nose, sinuses, and lungs, along with renal glomerular dz, and positive for anti-neutrophil cytoplasmic Ab’s (ANCA)
19
Q
What is Wegener’s triad?
A
- Acute necrotizing granulomas in the respiratory tract, leading to cavitations
- Focal necrotizing or granulomatous vasculitis in small to medium-size vessels
- Renal dz: crescentic glomerulonephritis with hematuria and proteinuria
20
Q
What is Churg-Strauss dz?
A
- vasculitis caused by WBCs that have been stimulated by ANCA
- similar to Wegener’s but presents with allergies and asthma and NO renal dz
21
Q
What is giant-cell (temporal) arteritis?
A
- m/c type of vasculitis
- specific to temporal, vertebral, and ophthalmic arteries, accompanied by facial pain and ocular symptoms
- incidence increases with age
- associated with HLA-DR4 (genetic component)
- called polymyalgia rheumatica when ESR is raised
- presents with granulomatous inflammation in media and intima as well as malaise, fever, weightloss, HA, vision loss, myalgia, and increased ESR with anti-neutrophil Ab’s
22
Q
What is Buerger dz?
A
- aka thromboangitis obliterans
- occlusive inflammatory dz of medium and small aa. in distal extremities
- m/c before age 35 in smokers
- presents with intermittent claudication (cramping pains in mm. after exercise then quickly relieved by rest) and ulceration of a digit
23
Q
What is an aneurysm?
A
- localized abnormal vessel dilation
- true: endothelial expansion bonded by all three layers
- false: no endothelial expansion, instead a leak in a vessel leading to a hematoma covering it
- dissection: blood enters vessel wall and dissects, forming a hematoma within the wall, then dissecting the layers of the wall, m/c in aorta
24
Q
What is an abdominal aortic aneurysm (AAA)?
A
- m/c in males over 50 with atherosclerosis or Marfans’ syndrome
- usually occur distal to renal aa. and proximal to aortic bifurcation
25
What is an aortic dissection?
- blood tracks up thru the tunica media, creating a channel
| - m/c in hypertensive men 40-60 yrs old
26
What are the types of hemangiomas?
- hemangioma (angioma, hamartoma): aka birth mark, benign tumor of blood vessels, localized, superficial, m/c on head, neck, liver
- capillary: m/c on skin, subQ tissue, oral mucosa, "strawberry" type, grows rapidly in first few mths of life then fades by 1-3 yrs
- cavernous: large and usually cosmetic problem but sometimes in brain
27
What is a lymph angioma?
- 90% occur in head/neck in kids under 2 yrs
- m/c in L posterior triangle of neck
- generally rare, but can be associated with Turner syndrome
- when large or spaces are present, called cystic hydroma
28
What is a glomus tumor?
- benign but very painful
- arise from glomus body cells
- usually in distal digits, esp. under fingernails
- excision is curative
29
What are the characteristics of the miscellaneous benign tumors?
- spider telangectasia: dilation, seen in pregnancy and cirrhosis
- nevus flammeus: aka port wine stain
- Osler-Weber-Rendu dz: hereditary hemorrhagic telangectasia
- bacillary angiomatosis: caused by bacilli of Bartinella species, m/c in HIV pts
30
What is Kaposi sarcoma?
- low-grade malignancy of endothelial cells
| - four forms: chronic (older Ashkenazi male Jews), African, transplant-associated, AIDS-associated
31
What is an angiosarcoma?
- malignancy of endothelial cells
- m/c in skin, soft tissue, breast, and liver
- rapid metastasis
- positive for CD31 endothelial marker
32
What is Raynaud's phenomenon?
- intermittent bilateral attacks of ischemia of the fingers, toes, ears, or nose
- presents with severe pallor and paresthesia and pain
- primary: digital pallor => cyanosis => hyperemia, bilateral and symmetrical
- secondary: associated with atherosclerosis, SLE, and Buerger dz
33
What are varicose veins?
- affects 20% of population
- m/c in females in LEs
- d/t increased venous pressure, age, valve dysfunction
- pathology: dilated, tortuous, elongated, scarred, calcifications, non-uniform smooth muscle
34
What is thrombophlebitis?
- 90% occur in deep veins of legs
- predisposing factors: CHF, neoplastic syndrome, pregnancy, obesity, post-operative, immobilization, and lung adenocarcinoma
- usually asymptomatic, but may present with edema, cyanosis, heat, pain, and tenderness
35
What are the heart sounds?
- S1: lub, beginning of systole, closure of bi- and tri-cuspid valves
- S2: dub, end of systole, closure of aortic and pulmonic valves
- S3: d/t increased atrial pressure leading to increased flow rates (CHF, dilated cardiomyopathy)
- S4: presystolic portion of diastole (hypertension, aortic stenosis, ischemic/hypertrophic cardiomyopathy)
36
What is an opening snap?
- high-frequency early diastolic sound
- occurs b/w apex and L lower sternal border
- associated with mitral stenosis
37
What is valvular heart dz?
- opening problem: stenosis; failure to open completely impedes forward flow
- closing problem: regurgitation or incompetence; failure to close completely is accompanied by reverse flow
38
What is valvular stenosis?
- calcification of a valve
- m/c is aortic
- causes include rheumatic heart dz (m/c), congenital, senile
39
What are the causes of regurgitation?
- aortic: rheumatic, infectious, dilation, syphilis, RA, Marfans
- mitral: prolapse, infectious, injury to papillary mm. or chordae tendinae, calcification of mitral ring (annulus)
40
What is Takayasu arteritis?
- granulomatous vasculitis of aortic arch
- m/c in young Asian women under 40 yrs
- presents with ocular disturbance, weakened pulse, dizziness, and dyspnea
41
What are the types of congenital aortic stenosis, and the clinical features?
- valvular: most common type, d/t abnormal dvlpmt of endocardial cushions, m/c in males
- sub-valvular: d/t membrane or fibrous ring around pathway up from LV to aortic valve, m/c in males
- supra-valvular: associated with idiopathic infantile hypercalcemia
- clinical features: fainting, dyspnea, angina pectoris, sudden death d/t ventricular arrhythmias
42
CASE: Pt presents with exertional syncope with convulsion and cyanosis. 1 yr later, develops retrosternal constricting chest pain radiating to L shoulder. History shows rheumatic fever at 14yrs. Dx?
Rheumatic heart dz with aortic stenosis
43
What is mitral valve prolapse?
- aka floppy valve
- leaflets become enlarged, chordae tendinae become thin and elongated, results in valve prolapse into L atrium
- linked to Marfans', Ehlers-Danlos, PKD, and scoliosis
- clinical features: chest pain, dyspnea, tachycardia, dizziness, mid-systolic click caused by redundant leaflets snapping
44
What is rheumatic fever?
- multi-system childhood dz following a streptococcal infection
- d/t inflammatory rxn involving heart, joints, and nervous system
- m/c in children 9-11 yrs
45
What is the diagnostic criteria of rheumatic fever?
- major criteria: carditis, polyarthritis, chorea, erythema marginatum
- minor criteria: previous history of RF, arthralgia, fever
* Must have 2 major or 1 major + 2 minor for dx
46
What is the pathology of rheumatic fever?
- myocarditis: fibrinois degeneration of collagen, presents with Aschoff body (granulomatous lesion), Anitschkow cells (chromatin filled nuclei with owl-eye appearance)
- pericarditis: fibrin deposition results in bread-and-butter appearance, presents with friction rub
- endocarditis: affects all 4 valves with L ones being more injured
47
What is Sydenham chorea?
- aka St. Vitus dance
- rapid, uncoordinated jerking mvmts
- m/c affects face, feet, and hands
48
What is mitral stenosis?
- valve orifice is reduced to fixed narrow opening = "fish mouth"
- if severe, L ventricle is spared and tends to be small and underfilled
- L atrial pressure is increased => L atrial enlargement => pulmonary hypertension
49
What is aortic stenosis?
- 2nd m/c valve involved in RHdz
- diffuse fibrous thickening of the cusps
- presents with syncope (15%), angina (35%), and CHF (50%)
50
What is autoimmune endocarditis?
- can occur after strep infection d/t cross-reacting antigens
- results in verrucae: small vegetations along the valve
- MacCallum plaques: subendocardial thickening by regugitation, usually in L atrium
51
What is infective endocarditis?
- microbial invasion of heart valves and endocardium
- acute: highly virulent bug attack normal valve leading to formation of vegetations and ring abscess, half of pt's die within weeks
- subacute: low virulence bug colonizes abnormal valve, slow onset, long course, most recover
- presents with fever and flu-like symptoms, complications include septicemia, arrhythmias, renal failure, emboli
52
What are the characteristics of sub-acute bacterial endocarditis?
- causes: alpha-hemolytic strep, staph aureus, e. coli
| - clinical signs: splinter hemorrhages, Janeway lesions (palms, soles), Osler's nodes (raised), Roth's spots (eye)
53
What is non-bacterial thrombotic endocarditis (NBTE)?
- vegetation contains fibrin and pits
- no bacterial involvement
- comcominant with venous thrombosis, PE, or DIC (hypercoagulability)
54
What are the causes of myocarditis?
- bacterial: c. diphtheria, chlamydial rickettsia, Lyme dz
- viruses: coxsackie, CMV, HIV
- parasites: trypanosoma cruzi (Chaga's dz)
- immune: post-viral, rheumatic, SLE, sulfa drugs, hypo- and hyper-thyroidism
55
What is the pathology of myocarditis?
- interstitial infiltration by mononuclear cells, t-lymphocytes, and macrophages
- clinical heart failure develops
- most recover, few die of CHF or arrhythmias
56
What is cardiomyopathy?
- primary dz of the myocardium
- classification by cause: inflammatory, immunologic, metabolic, dystrophic, genetic (idiopathic)
- classification by structural changes: dilated (=> systolic dsfxn), hypertrophic (=> diastoliz dsfxn), restrictive (=> diastolic dsfxn
57
What are the characteristics of dilated cardiomyopathy?
- mechanism: impaired contractility (systolic dsfxn)
- cause: alcohol/drugs, pregnancy, nutritional deficiency, anemia, hemochromatosis
- pathology: collagen deposition results in fibrosis and dilation of all 4 chambers
- features: ischemic, valvular, hypertensive, or congenital heart dz
58
What are the characteristics of hypertrophic cardiomyopathy?
- mechanism: impaired compliance (diastolic dsfxn)
- cause: beta-myosin heavy chain defects, Friedreich ataxia, storage dz's (genetic) or hypertrophy/fibrosis, infants of diabetic mothers (acquired conditions)
- features: decreased chamber volume, SV, and diastolic filling, hypertension, aortic stenosis
59
What are the characteristics of restrictive cardiomyopathy?
- mechanism: impaired compliance (diastolic dsfxn)
- causes: amyloidosis, sarcoidosis, fibrosis, radiation
- features: pericardial constriction results in decreased ventricular compliance
60
What is cardiac tamponade?
- clinical syndrome caused by accumulation of fluid in the pericardial space
- results in reduced ventricular filling
- associated with MI, perforation, infective endocarditis, AAA
61
What are the types of pericarditis?
- serous: RF, SLE, uremia, scleroderma, tumors
- fibrinous (bread-and-butter) : RF, SLE, uremia, MI, radiation, open-heart surgery
- purulent: infective, bacterial
- hemorrhagic: TB, malignancy
- caseous: TB
62
What is preload?
- the end-diastolic volume (EDV) at the beginning of systole
- the initial stretching of the cardiac myocytes prior to contraction
- affected by venous blood pressure and the rate of venous return
63
What is afterload?
- the ventricular pressure at the end of systole (ESP) against which the heart contract to eject blood
- the greater the aortic/pulmonic pressure, the greater the afterload on the LV/RV
64
What is ejection fraction?
- how much blood the LV pumps out with each contraction
- normal EF: 55-70
- < 40 => heart failure or cardiomyopathy
- > 75 =. hypertrophic cardiomyopathy
65
What are the classifications of hypertension?
- primary (essential): idiopathic, caused by environment of genetic factors, 95% of cases
- secondary: 5%, caused by renal or endocrine pathologies or exogenous hormones
66
What is hypertension d/t primary hyperaldosteronism?
- excess aldosterone results in renal sodium retention, hypokalemia, and hyperchloremic metabolic alkalosis
- pts develops increased intravascular volume = hypertension
67
What are the consequences of hypertension?
- heart: hypertrophied myocytes showing nucleomegaly = box car nuclei; onion skinning of arteriole /t necrotizing arteriolitis = organ damage
- kidneys: renal artery atherosclerosis or stenosis
- brain: encephalopathy, cerebral edema, microhemorrhages, lacunar infarcts
- eyes: hypertensive retinopathy
68
CASE: 66 YOF presents with hypertension and sudden, painless, profound loss of vision in the R eye. Dx?
hypertensive retinopathy and papilledema
69
CASE: 57 YOM w/ type 2 DM, history of alcohol use, and BP of 168/100 mmHg presents with lab values of blood urea nitrogen at 14 mg/dl, serum creatinine of 1.2 mg/dl, serum glucose of 169 mg/dl, and albumin excretion rate of 250 mg/day. Dx?
Diabetic nephropathy (albuminuria, hypertension, and progressive renal insufficiency)
70
What is ischemic heart disease?
- m/c cause of heart dz in the US, leading cause of death
- causes: atherosclerosis, obstruction, arrhythmia, decreased O2 transport (anemia, lung dz)
- risk factors: systemic hypertension, smoking, obesity, increasing age, male sex, oral contraceptives, elevated cholesterol, *plasminogen activator inhibitor 1 (PAI-1)
71
What is angina pectoris?
- burning pain in the substernal portion of the chest, radiating to the L arm, jaw, or epigastrium
- typical (stable): pain on exertion
- prinzmetal (variant): pain at rest
- pre-infarction (unstable, accelerated, crescendo): increasing pain with less exertion, may occur during rest or sleep
72
What is myocardial infarction?
- episode of ischemia lasts for a longer period of time, heart muscle cells die
- leading cause of death in developed nations
- m/c in males 45+ yrs, and in LV
73
What are the different types of MI by blockage?
- L anterior descending coronary a. (50%): blockage produces infarc of apical, anterior, and antero-septal walls of LV
- R coronary a. (30%): blockage produces infarct of posterior inferior LV
- L circumflex coronary a. (20%): blockage produces infarct of lateral LV wall
74
What are the different types of MI by location?
- apical: most damaged from ischemia, m/c site of motion abnormalities
- global/subendocardial: severe narrowing of all 3 coronary arteries without thrombosis, affects inner third of the LV
- transmural: involves full LV wall
75
What are the macroscopic stages of MI?
- 24 hrs: recognized by pallor
- 3-5 days: mottled, sharply outline, central pale-yellow necrotic zone bordered by hyperemic zone
- 3 wks: myocardium thinned
- 6-8 wks: good scar
76
What are the microscopic stages of MI?
- 24 hrs: eosinophilic myocytes, coagulative necrosis, edema, loss of sarcolemmal integrity
- 1-3 days: PMN leukocytes attracted to infarct, muscle cells become necrotic and loose nuclei and striations
- 5-7 days: phagocytosis of dead muscle, fibroblast and collagen proliferation
- 3 wks: necrotic debris is removes and replaced by granulation tissue with capillaries, lymphoid cells, macrophages, and fibroblasts
- 6-8 wks: infarction replaced by solid scar tissue
77
How is MI diagnosed?
- history and exam
- confirmed by EKG: ST elevation, Q wave formation, T wave inversion, normalization with persistent Q wave
- increased troponins (sarcolemma), MB-CK (cardiac muscle), and non-specific enzymes liked AST or LDH
78
What is left heart failure?
- failure of LV causes blood back up in the lungs
- m/c causes include ischemic heart dz, systemic hypertension, mitral/aortic valve dz
- pt presents with tachycardia, dyspnea, orthopnea, enlarged heart, rales at lung bases; later presents with mitral regurgitation, systolic murmur
79
What is right heart failure?
- failure of RV causes blood back up in body
- commonest causes include L heart failure, lung dz (cor pulmonale), congenital heart dz
- pt presents with peripheral edema, hepatomegaly/nutmeg liver, splenomegaly
80
What is cor pulmonale?
- hypertrophy of R ventricle
- acute causes: massive pulmonary embolism
- chronic causes: COPD, pulmonary artery dz, chest wall motion impairment
81
What are the classifications of heart failure?
1: dyspnea only with vigorous exertion
2: dyspnea with moderate exertion
3: dyspnea with mild exertion, may have mild dyspnea at rest
4: significant dyspnea at rest
82
What are the EKG values?
- P wave: depolarization of R + L atria
- QRS complex: depolarization of R + L ventricles
- T wave: ventricular repolarization
- PR interval: time b/w onset of atrial depolarization to ventricular depolarization
- QRS duration: length of ventricular depolarization
- QT internal: length of ventricular depolarization and repolarization
83
How is cortisol controlled in the body?
- hypothalamus releases corticotropin releasing hormone (CRH) => anterior pituitary releases adrenocorticotropic hormone (ACTH) => adrenal cortex releases cortisol
=> cortisol inhibits the anterior pituitary and hypothalamus
84
What is the anatomy of the pituitary gland?
- size: 1 cm, 0.5 gm
- location: near optic chiasm and CNs 3, 4, 5, 6
- attached to hypothalamus via stalk
- anterior: adenohypophysis
- posterior: neurohypophysis
85
What are the secretions from the anterior pituitary?
- acidophil cells: growth hormone and prolactin (GPA)
| - basophil cells: FSH, LH, ACTH, TSH (B-FLAT)
86
What are the secretions from the posterior pituitary?
- oxytocin: causes contraction of uterine smooth muscle
| - vasopressin (ADH): concentrates urine
87
What is hypopituitarism?
- occurs when ~75% of parenchyma is lost/absent
| - m/c cause is pituitary tumors, also congenital causes
88
What is Reiger's syndrome?
- autosomal dominant condition resulting in hypopituitarism
| - abnormalities of face, teeth, eyes, and pituitary gland
89
What is empty sella turcica syndrome?
- enlarged sella containing a thin, flattened pituitary at the base
- secondary to defective diaphragm sella
90
What is iatrogenic hypopituitarism?
caused by radiation damage to the hypothalamic pituitary axis (HPA) during therapy
91
What is pituitary apoplexy?
- sudden hemorrhage into the pituitary gland, often occurring with pituitary adenoma
- a neurosurgical emergency characterized by excruciating headace, diplopia, and hypopituitarism
92
What is Sheehan syndrome?
- a hypopituitarism caused by ischemic necrosis
- m/c d/t severe hypertension caused by postpartum hemorrhage
- posterior pituitary is less susceptible to ischemic injury, therefore less affected
- rare with modern OB care
93
What are the symptoms of hypopituitarism?
- dwarfism
- loss of libido
- menstrual abnormalities
- symptoms of hypothyroidism and adrenal insufficiency
94
What is hyperpituitarism?
- excess secretion of pituitary hormones
| - m/c cause is pituitary adenomas, also cancer and hypothalamic disorders
95
What is a pituitary adenoma?
- benign neoplasm of the anterior lobe, typically slow-growing
- can presents with visual field abnormalities d/t close proximity to optic chaism
- associated with multiple endocrine neoplasia type 1 (MEN-1) and Carney complex, a syndrome of myxomas, pigmentation, and endocrine overactivity
96
How are pituitary adenomas classified?
- cell type: acidophil, basophil, chromophobe
- size: micro- and macro-
- function: hormone-producing or hormone-inactive (non-functioning)
97
What are the characteristics of a prolactinoma?
- m/c type of hyperfunctional pituitary adenoma
- m/c symptomatic in 20-40 YOFs
- microscopic: weakly acidophilic or chromophobic cells with spheroid nuclei and prominent nucleoli
- females present with reduced menstruation, fertility, libido, and galactorrhea (milk production w/o pregnancy)
- males present with ED, reduced fertility and libido, and gynecomastia
98
What are the characteristics of growth hormone adenomas?
- continuously elevated levels of GH stimulate the hepatic secretion of insulin-like growth factor
- gigantism before closure of epiphyseal plates, acromegaly after closure
- pt presents with overgrowth of mandible, thickened nose, enlarged hands and feet, gonadal dysfunction, arthritis, and 1/3 have hypertension and cardiomegaly
99
What are the types of GH adenoma?
- densely granulated somatotroph adenoma: contain acidophilic cells arranged in cords and ribbons
- sparsely granulated somatotroph adenoma: chromophobe cells with spheroid cytoplasmic inclusions called fibrous bodies
100
What are the characteristics of corticotroph adenomas?
- small microadenomas
- basophilic, densely granulated
- induces hypercorticism and Cushing's dz
101
What is the difference b/w Cushing syndrome and dz?
- Cushing dz: hypercortisolism d/t ACTH hypersecretion
- Cushing syndrome: a condition caused by oversecretion of glucocorticoid hormones from the adrenals resulting in a redistribution of body fat
102
What is Nelson syndrome?
- aka postadrenalectomy syndromy
| - the rapid enlargement of a pituitary adenoma that occurs after the removal of both adrenal glands
103
CASE: 37 YOM with history of alcohol abuse presents to ER with seizures. MRI reveals small sellar mass with compression of optic chiasm. Hormonal evaluation was WNL. Histology revealed a chromophobe adenoma with increased mitotic forms. Dx?
Non-functioning pituitary tumor
104
What is diabetes insipidus?
- d/t ADH deficiency (from posterior pituitary)
| - symptoms: polyuria, polydypsia, high serum sodium (hypernatremia)
105
What are the secretions from the thyroid?
- calcitonin (lowers calcium)
- thyroxine (T4)
- triiodothyronine (T3)
* T4 is converted into T3 in most of the target tissues
106
What is the structure of the thyroid gland?
- follicles lined by cuboidal epithelium and filled with colloid
- colloid secretes thyroglobulin, from which active T3 and T4 are released
107
What are the congenital anomalies of the thyroid?
- agenesis: absence of thyroid tissue
- ectopic: thyroid tissue outside the gland d/t abnormal migration during dvlpmt, may be located lateral to jugular veins or in lymph nodes, lingual thyroid = remains at base of tongue if failing to descend during dvlpmt
- thyroglossal duct cyst: if duct fails to close, a cystic remnant may be seen anywhere along the duct, papillary carcinoma may develop from this cyst
108
What are the different types of thyroid enlargement?
- diffuse: toxic goiter, Graves, Hashimotos, subactue tyroiditis, euthyroid goiter, silent thyroiditis
- masses: thyroid cyst, benign adenoma, carcinoma
- multinodular: Plummer's dz
109
What are the characteristics of euthyroid conditions (non-toxic goiter)?
- normal thyroid function, goiter usually caused by dietary deficiency of iodine
- m/c in females (8:1), common during adolescence and pregnancy, tends to be familial
- gland shows hypertrophy and hyperplasia of follicular epithelial cells
110
What are the characteristics of multinodular goiter?
- extreme enlargement, may cause dysphagia or inspiratory stridor, venous congestion of the head/face, and hoarseness
- non-toxic: most patients are euthyroid (T3, T4, TSH WNL)
- toxic: many patients eventually develop hyperthyroidism
111
What are the causes of hypothyroidism?
- defective thyroid hormone synthesis
- inadequate thyroid function: thyroiditis (AI), infiltration (sarcoidosis), surgical resection, or radioiodine
- inadequate secretion of TSH: pituitary dysfunction (TSH) or hypothalamic dysfunction (TRH)
112
What is endemic goiter?
- congenital hypothyroidism in areas of endemic goiter
- d/t dietary iodine deficiency in geographical areas like US Great Lakes, Africa, China, Himalayas
- may be reversed with iodine supplements
113
What is cretinism?
- hypothyroidism seen in infancy or early childhood, caused by deficiency of iodine, m/c in girls
- symptoms: apathy, weakness, hypothermia, anemia, large abdomens (umbilical hernia), stunted growth, cardiomegaly
- lab values: low T3 and T4, high TSH
114
What is myxedema?
- hypothyroidism seen in adults with a hypometabolic state caused by low thyroid hormone
- symptoms: bradycardia, decreased sympathetic activity (cool pale skin), depression, edema of face/hands/feet, constipation, delayed reflexes
115
What is thyroiditis?
- inflammation of the thyroid
- m/c causes are strep, staph, and pneumococcus, also can be AI
- pt presents with fever, chills, malaise, painful and swollen neck
116
What is Hashimoto's thyroiditis?
- m/c cause of hypothyroidism in nonendemic areas of the world
- m/c in females b/w 25-65 yrs
- macroscopic: thyroid is enlarged and firm with capsule intact
- microscopic: follicular destruction, lymphocytic infiltration, presence of Hurthle or Askanazyc cells
- lab values: low T3 and T4, high TSH
117
What is subactue thyroiditis?
- aka De Quervain's dz
- non-suppurative, painful enlargement, m/c in females 30-50 yrs
- presents with neck pain radiating to jaw, fever, malaise, transient hyperthyroidism (2-6 wks), followed by hypothyroidism (8 wks), and complete recovery
- macroscopic: thyroid is enlarged and firm
- microscopic: released colloid d/t follicular destruction leads to granulomatous changes and presence of multinucleated giant cells
118
What is Riedel thyroiditis?
- thyroid is hard and woody
- m/c in middle aged females
- presents with gradual onset of painless hard goiter and stridor, dysphagia, and hoarseness
119
What is silent thyroiditis?
- painless inflammation
- m/c in middle age or post-partum
- absence of anti-thyroid antibodies, presence of lymphoid infiltrate
- usually lasts 2-4 months then patients become euthyroid
120
What are the types of hyperthyroidism?
- if symptomatic, called thyrotoxicosis
- primary: m/c cause of Graves, 95% of cases d/t diffuse hyperplasia
- secondary: d/t external hormones, pituitary adenoma, ovarian tumor
121
What is Graves disease?
- m/c cause of hyperthyroidism
- m/c autoimmune condition in the US
- m/c in females 20-40 yrs
- symptoms: hyperreflexia, tachycardia, sympathetic overstimulation, increased CO and BP, osteoporosis, exophthalmos
122
What are the changes that take place with Graves disease?
- pathogenesis: IgG antibodies to TSH receptor act as agonists to stimulate TSH and TSI receptors to increased thyroid secretion
- macroscopic: diffuse, nodular, symmetrical enlargement
- microscopic: diffuse hyperplasia of epithelial linings of follicles
123
What are the different tumors of the thyroid?
- adenoma: benign, solitary, hyperfunctioning thyroid tumor, m/c occuring in the middle age, histo shows large follicles filled with colloid
- papillary carcinoma: malignant, firm, white thyroid tumor, m/c thyroid carcinoma, histo shows psammoma bodies with clear nuclei
- follicular carcinoma: m/c occuring in pt's 40+ yrs old (rare in children), solitary palpable nodules on physical exam
- medullary carcinoma: non-capsulated, solid tumor with vascular stroma and eosinophilic amyloid, positive for calcitonin endocrine marker, direct invasion into soft tissues and metastasis into nodes, lung, liver, bones
124
What is the anatomy of the parathyroid gland?
- derives from branchial cleft 3 and 4
- most people have 4 glands, but numbers vary from 1 to 12
- composed of chief cells (secrete PTH) and oxyphil cells
125
What is the function of the parathyroid gland?
Low levels of ionized (free) calcium stimulate parathyroid gland to release PTH...
1. Bone: PTH stimulates osteoclasts to resorb bone, increasing serum calcium levels
2. Kidneys: PTH increases renal tubular reabsorption of calcium, secretion of phosphates, and promotes activation of vitamin D
3. GI: Activation of vitamin D promotes calcium absorption from food
126
What are the types of hyperparathyroidism?
- primary: persistent production of PTH in the absence of intestinal or renal stimulation, aka autonomous or spontaneous
- secondary: caused by any condition associated with low serum calcium level, which causes compensatory hyperplasia of the parathyroid
- tertiary: the development of autonomous parathyroid hyperplasia after longstanding hyperplasia secondary to renal failure
127
What are the characteristics of primary hyperparathyroidism?
- m/c in females 50+ yrs
| - pt presents with hypercalcemia, hypophosphatemia, bone dz, and increases serum ionized calcium
128
What are parathyroid adenomas?
- circumscribed, reddish-brown, solitary masses about the size of an olive
- cystic changes and hemorrhagic areas are common
129
What is primary parathyroid hyperplasia?
- m/c in females, associated with familial hyperparathyroidism or MEN-1
- all four parathyroid glands are enlarged
- microscopic: normal glandular adipose tissue is replaced by hyperplastic chief cells arranged in trabecular patterns
130
What is parathyroid carcinoma?
- rare, but occurs in both sexes, m/c b/w 30-60 yrs
| - lobulated, firm, non-encapsulated masses often seen with vascular invasion
131
What are the characteristics of secondary hyperparathyroidism?
- m/c in chronic renal failure with decreased phosphate excretion
- elevated serum phosphate levels directly depress serum calcium levels, thereby stimulation parathyroid gland activity
- increased chief cells with water clear cells and metastatic calcification of tissues
132
What are the clinical features of hyperparathyroidism?
- hypercalcemia and hypophsphatemia
- increased PTH => calcium loss from bones
- increased calcium reabsorption from renal tubules => renal colic and kidney stones, polyuria, polydipsia
- increased GIT absorption of calcium => peptic ulcers d/t increased gastric secretion d/t hypercalcemia, constipation, pancreatitis
- increased active vitamin D production
- bone lesions: osteitis fibrosa cystica => bone pain, bone cysts, pathologic fractures
133
What is hypoparathyroidism?
- decreased secretion of PTH or end-organ insensitivity to it (pseudohypoparathyroidism)
- characterized by hypocalcemia and hyperphosphatemia
- clinical features: tingling in hands/feet, muscle cramps, convulsions, depression, cataracts, positive Chvostek sign (tapping along facial nerve) and Trousseau sign (arm cuff with forearm and hand carpal spasm)
134
What is the anatomy of the adrenal glands?
- medulla: chromaffin cells that secrete catecholamines (nor/epinephrine)
- cortex: zona glomerulosa that secretes aldosterone, zona fasciculata that secretes cortisol, zona reticularis that secretes sex steroid
135
How do the corticoids functions?
- aldosterone (mineralocorticoid): maintains sodium balance by reducing sodium excretion from the body by stimulating sodium reabsorption by the kidney; stimulated by decreased sodium and BP, and increased potassium
- cortisol (glucocorticoid): maintains blood sugar levels via gluconeogenesis and release into blood, maintains blood volume by preventing water shift into tissues
136
What is congenital adrenal hyperplasia?
- autosomal recessive enzyme deficiency of 21-hydroxylase (P450C21)
- inability to make cortisol from cholesterol
- m/c among those of Jewish, Iranian, and Moroccan descent
137
What are the types of congenital adrenal hyperplasia?
- simple virilizing form: female newborns are exposed to excess of androgens in utero, born with fused labia and enlarged clitoris, also short stature, males exhibit no sexual abnormalities
- salt wasting form: linked to HLA-BW47, impaired aldosterone synthesis, babies develop hyponatreia, hyperkalemia, dehydration, hypotension, and increased renal secretion developing in the first few wks of life, rapidly fatal if untreated with glucocorticoids and mineralocorticoids
138
What are the clinical types of adrenogenital syndrome?
- simple: adrenal hyperplasia with no salt-wasting, females with ambiguous genitalia, males with precocious puberty and enlarged genitalia
- classic: salt-wasting, adrenal hyperplasia, female phalloid organ, normal male at birth
- non-classic: m/c, asymptomatic or hirsutism
139
What is Waterhouse-Friederichsen syndrome?
- features: hypotension, shock, DIC, adrenal hemorrhage, d/t severe bacterial infection
- dx: increased ACTH, decreased cortisol
140
What is Addison's dz?
- primary chronic adrenal insufficiency
- d/t failure of adrenal glands to produce androgens and gluco- and mineralocorticoids
- usually linked to one of four disorders: AI adrenalitis, TB, AIDS, or metastatic cancer
- m/c in white women
- presents with lymphoid infiltrations in the adrenal gland and circulating Abs to adrenal antigens
141
What is the pathology of Addison's dz?
- symptomatic when 90% of the adrenal gland is destroyed
- macroscopic: glands are pale, irregular, shrunken
- microscopic: chronic inflammation, fibrosis, lymphoid infiltrates, intact medulla
- dx: test corticosteroid blood levels after ACTH injection
142
What is secondary adrenocortical insufficiency?
- aka secondary hypoadrenalism
- caused by cancer, infection, infarction, irradiation of hypothalamus or pituitary
- no pigmentation b/c melanotropic hormone levels are low, ACTH not increased, no low serum ACTH levels
143
What is an adrenocortical adenoma?
- macroscopic: firm, yellow, encapsulated
- microscopic: clear, lipid-laden cells in sheets or nests
- can produce extra cortisol or aldosterone
144
What is an adrenocortical carcinoma?
- rare and aggressive
- macroscopic: soft, lobulated, necrotic and hemorrhagic changes
- microscopic: pleomorphic cells or well-differentiated cells, both clear and compact
- m/c in women
- metastasize to lung, liver, lymph nodes so poor prognosis
145
What are the three syndromes of hyperadrenalism?
- excess cortisol: Cushing syndrome
- excess aldosterone: hyperaldosteronism
- excess androgens: adrenogenital or virilizing syndrome
146
What are the characteristics of Cushing dz?
- primary dz associated with oversecretion of ACTH
- m/c in women in their 20-30s
- presents with diffuse adrenal hyperplasia: enlarged cortex, zona fasciculata has large clear lipid-laden cells
147
What are the causes of Cushing syndrome?
- m/c cause in US is chronic corticosteroid administration for immune disorders
- ACTH secreting pituitary microadenoma: usually causes Cushing's dz (not syndrome), m/c in 25 yr old females, increased ACTH and cortisol
- primary adrenal causes: hyperplasia, carcinoma (m/c in children), adenoma (m/c in adult females), decreased ACTH with increased cortisol
- ACTH secreting conditions: small cell carcinoma, m/c in young boys, presents with increased ACTH and cortisol
148
What is Conn syndrome?
- primary hyperaldosteronism
- m/c in children and young adults
- d/t adrenal adenoma or hyperplasia
- presents with sodium retention and potassium excretion, leading to hypertension and hypokalemia, also alkaline urine is present
- macroscopic: yellow adenoma
- microscopic: presence of spironolactone bodies (eosinophilic laminated inclusions)
149
What are the characteristics of a pheochromocytoma?
- chromaffic cell neoplasm that synthesizes and released catecholamines
- m/c in women, and usually unilateral
- macroscopic: reddish, encapsulated, spongy, with a central scar
- microscop: polygonal or spindle-shaped chromaffin cells arranged in nests (Zellballen) and surrounded by "salt and pepper" chromatin
150
What is MEN-1?
- aka Wermer syndrome
- autosomal domimant
- 3 Ps commonly involved: parathyroid gland, pancreas, pituitary
151
What is MEN-2?
- aka Sipple syndrome
- autosomal dominant
- commonly involves thyroid gland
