Cardiac Flashcards
Name two other acronyms for the constellation of findings seen in Carney complex.
NAME = Nevi, atrial myxoma, ephelides
LAMB = lentigines, atrial myxoma, blue nevi
What is Carney complex?
Abnormal skin pigmentation, cutaneous and cardiac myxomas, and endocrine abnormalities (adrenal, pituitary and thyroid).
What is the gene for hypertrophic cardiomyopathy?
Beta-myosin heavy chain.
There are over 400 mutations in one of several genes that encode sarcomeric proteins.
What are the classic findings in acute rheumatic heart disease?
Collections of plump macrophages with lymphocytes and plasma cells called Aschoff bodies.
What is the second most common primary cardiac tumor?
Papillary fibroelastoma
What primary cardiac tumor has the appearance of a sea anemone when placed in water?
Papillary fibroelastoma
Intramural cardiac fibroma is associated with which syndrome?
Gorlin syndrome (mutation in PTC gene on chromosome 9q22.3)
Autosomal dominant disorder characterized by body overgrowth, jaw keratocysts, skeletal abnormalities and predisposition to basal cell carcinoma and other basaloid neoplasms.
What is the second most common tumor in children?
Intramural cardiac fibroma
Viral myocarditis is most often caused by?
Enteroviruses, particularly coxsackie viruses A and B.
What is the characteristic microscopic finding in cardiac allograft vasculopathy?
Concentric intimal proliferation.
Cardiac allograft vasculopathy is the limiting factor for long-term success of cardiac transplantation.
What syndrome is cardiac rhabdomyoma associated with?
It is associated with tuberous sclerosis (TSC1 - hamartin and TSC2 genes - tuberin).
What other benign tumor is associated with tuberous sclerosis?
Angiomyolipoma
What is the characteristic cell in cardiac rhabdomyoma?
Spider cell
What is the most common mutation in hereditary hemachromatosis?
Homozygous autosomal recessive disorder resulting from mutations in the HFE with most common mutation in C282Y.
Causes unregulated uptake of iron in the G.I. system.
What stain would you use to highlight iron?
Prussian blue
What is the infectious agent in Chagas disease?
Trypanosoma cruzi
What is the vector of Chagas disease?
Reduviid “kissing bug”
How do you distinguish Trypanosoma cruzi from Toxoplasma gondii?
Trypanosoma amastigotes have a distinct kinetoplast
What amino acid metabolism defect is associated with ochronosis of the heart valves?
Alcaptonuria (autosomal recessive)
Name two other common mutations implicated in hypertropic cardiomyopathy.
Myosin binding protein C (20%) and cardiac troponin T (15%).
Name two common causes of dilated cardiomyopathy.
Viral myocarditis and alcohol use.
Patients with cardiac amyloidosis typically present with this type of dysfunction.
Diastolic dysfunction (restrictive cardiomyopathy).
What is the most common inheritance pattern of dilated cardiomyopathy?
Autosomal dominant
How long ago did an infarct showing soft, yellow-tan tissue with hyperemic border occur?
3 to 7 days ago
Infarcted tissue shows dead myofibers and neutrophils with an infiltration of macrophages beginning at the edge of the lesion.
Which picture organism is more common in the setting of prosthetic valves?
Staphylococcus epidermidis
Which organisms are more likely to be seen in culture negative endocarditis?
HACEK organisms
Hemophilus, Aggregatibacter, Cardiobacterium, Eikenella, and Kingella
What classic condition is associated with a continuous murmur?
Patent ductus arteriosus
Which condition is associated with a mid systolic click?
Mitral valve prolapse
What is the causative agent of rheumatic heart disease?
Streptococcus pyogenes (group A or beta-hemolytic streptococcus)
What is the most common cause of mitral stenosis?
Rheumatic heart disease
What condition imparts a “fish mouth” appearance of the mitral valve?
Rheumatic heart disease
What is the gene(s) in hypertrophic cardiac myopathy?
MYH7, beta-myosin heavy chain (14q12)
MYBPC3, myosin binding protein C (11p11.2)
TNNT2, troponin T(1q32)
What is the gene associated with dilated cardiomyopathy?
MYH7, beta myosin heavy chain (14q12): Autosomal dominant
DMD, dystrophin (Xp21): X linked
What is the gene associated with long QT syndrome?
KCNQ1, potassium or sodium channel subunits (7q35–36 or 11p15.5): Autosomal dominant
What is the gene associated with Naxos syndrome?
Plakoglobin (17q21): autosomal recessive
What is the gene associated with myxoma?
TSC1, hamartin (9q34) & TSC2, tuberin (16p13.3)
Aka tuberous sclerosis
What is the gene associated with the cardiac fibroma?
PTC, transmembrane protein (9q22.3)
