Diseases for Quiz 5 (final week) Flashcards
Iron Overload Cardiomyopathy
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
Cardiomyopathy due to cardiotoxic drugs
Especially secondary to anthracycline (doxo and daunorubicin) dose-dependent myocyte toxicity.
May resolve post drug cessation
Can cause dilated or restrictive CM w/ HF
Amyloidosis
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
Myocarditis
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.
Acute pericarditis
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
Chronic/recurrent pericarditis
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
Myxoma
Commonest primary heart neoplasm. Most commonly found in atria (left).
Sx: from mechanical blockage of AV valves or embolization
Dx: ECHO
Rx: Surgical excision
Rhabdomyoma
Commonest primary cardiac neoplasm in children particularly those w/ tuberous sclerosis.
Eisenmenger’s Syndrome
Untreated Large L –> R shunt. Eventual extreme pulmonary HTN which reverses the flow and generally causes death.
Pulmonary stenosis/atresia
Isolated or part of TOF
RV hypertrophy or hypoplasia
PDA may be vital to survival until surgical repair (PGE1)
Aortic stenosis/atresia
severe disease: LV hypoplasia (hypoplastic left heart syndrome –> incompatible with life)
PDA may be vital to survival until surgical repair (PGE1)
Sudden Cardiac Death
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
Hypertension ***
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)
Secondary HTN ***
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
Fibromuscular dysplasia (FMD) ***
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.
Cushing’s syndrome
AKA hypercortisolism.
Cause of secondary HTN
From Rx, paraneoplastic, etc.
Pheochromocytoma
NE secreting tumor
paroxysmal HTN w/ headaches, palpitations, diaphoresis
Primary Aldosteronism
Increased mineralocorticoid states:
Lab clues: HYPOKALEMIA (less than 50%); plasma aldoseterone/renin ratio.
Hypertension Encephalopathy
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
HTN end-organ pathology
- 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)
Diabetic Vascular Implications ***
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
Calciphylaxis
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
Type A Aortic Dissection
Ascending aorta (+/- involvement of arch/descending aorta)
Majority of dissections
Debakey I ( ascending + arch & descending) Debakey II (Ascending only)
Rx: surgery ASAP
Type B Aortic dissection
Descending throracic aorta and/or the arch
Debakey III (Descending/arch only)
Medical management possible
Vasculitis ***
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
Takayasa arteritis
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
Giant Cell Arteritis ***
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!
Polyartertis Nodosa
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)
Kawasaki Disease ***
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
Leukocytoclastic (cutaneous) vasculitis ***
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
Henoch-Schonlein Purpura
cutaneous/leukocytoclastic vasculitis with IgA deposition in patients
Cryoglobulinemic Vasculitis ***
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
Anti-neutrophil cytoplasmic antibody (ANCA) ***
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
Wegener’s Granulomatosis ***
Systemic largely small vessel vasculitis associated w/ tissue necrosis and focal giant cell/granuloma formation
Classic triad of involvement:
- )ENT disease (95%)- nasal/sinus sx- sinusitis, mucosal ulceration, etc.
- ) Pulmonary disease (90%) - pulmonary nodules/infiltrates +/- cough, dyspnea, hemoptysis
- ) Kidney disease (80%) - often rapidly progressive glomerulonephritis w/ threat of ESRD
90% c-ANCA positive
Dx: tissue biopsy
Rx: corticosteroids + cyclophosphmide
Microscopic Polyangiitis ***
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
Churg-Strauss Syndrome
AKA allergic angiitis and granulomatosis
Rare systemic vasculitis associated w/ SEVERE ASTHMA.
50% ANCA positive
Rx: glucocorticoids
Misc. Small Vessel Vasculitis ***
Connective tissue disease associated (SLE, RA, myositis, relapsing polychondritis, Sjogren’s)
Drug induced (may be ANCA positive)
Infx: esp. rickettsial disease)
Thromboangiitis Obliterans (Buerger’s Disease)
Distal extremity arteritis in heavy cigarette smokers (usually males may progress to ulceration, gangrene, amputation
Rx: Smoking cessation
Varicose veins ***
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
Hemorrhoids
anorectal venous plexus engorgement
Can be complicated by: inflammation, thrombosis/ulceration
Associated w/ constipation/straining and pregnancy
Esophageal varices ***
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
Deep Vein Thrombosis (DVT)
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.
Disseminated Intravascular Coagulation (DIC)
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
Congential Hypercoaguability
Factor V leiden, prothrombin gene mutation, deficiencies in factors C, S, or antithrombin III
Suspect if unprovoked thrombis occurs in patient
Post thrombotic/thrombophelbitic syndrome
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
Hemangiomas
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
Lymphangioma
Uncommon w/ largest examples most frequent in neck/axilla of young children (cystic hygroma)
Glomus tumor
Glomus cell proliferation associated w/ vascular channels: Painful small tumors of distal digits.
Bacillary angiomatosis
Vascular proliferation associated w/ Bartonella infection (i.e. cat scratch species in immunosuppressed patients (esp. HIV)
Often mis dx w/ Kaposi’s sarcoma
Kaposi’s sarcoma
Malignant vascular proliferations w/ skin +/- visceral involvemtn.
Associated w/ HHV-8
3 populations:
- ) HIV/AIDS
- ) Transplant
- ) Eastern European Men
Angiosarcoma
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
Aortic Stenosis
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
Mitral Insufficiency (Regurgitation)
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
Mitral Stenosis
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
Aortic Insufficiency
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
Mitral Valve Prolapse (click-murmur syndrome
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
Tricuspid stenosis
Rare
Associated w/ mitral stensois
Giant A wave in the neck
Diastolic at LLSB
Tricuspid regurge
Functional from RV dilation. Sign of right sided HF.
Holocystolic murmur at LLSB
Prominent v waves of neck.
Pulmonic stenosis
Usually preceded by ejection click.
Midsytolic murmur at left 2nd and 3rd interspaces.
Benign in young people.
Innocent murmurs
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
Leriche syndrome (aortoiliac obstructive disease)
fatigue of both lower extremities
erectile dysfunction
pallor and global atrophy of both lower extremities
