Cardiac

Question 0

Name two other acronyms for the constellation of findings seen in Carney complex.

Answer 0

NAME = Nevi, atrial myxoma, ephelides

LAMB = lentigines, atrial myxoma, blue nevi

Question 1

What is Carney complex?

Answer 1

Abnormal skin pigmentation, cutaneous and cardiac myxomas, and endocrine abnormalities (adrenal, pituitary and thyroid).

Question 2

What is the gene for hypertrophic cardiomyopathy?

Answer 2

Beta-myosin heavy chain.

There are over 400 mutations in one of several genes that encode sarcomeric proteins.

Question 3

What are the classic findings in acute rheumatic heart disease?

Answer 3

Collections of plump macrophages with lymphocytes and plasma cells called Aschoff bodies.

Question 4

What is the second most common primary cardiac tumor?

Answer 4

Papillary fibroelastoma

Question 5

What primary cardiac tumor has the appearance of a sea anemone when placed in water?

Answer 5

Papillary fibroelastoma

Question 6

Intramural cardiac fibroma is associated with which syndrome?

Answer 6

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.

Question 7

What is the second most common tumor in children?

Answer 7

Intramural cardiac fibroma

Question 8

Viral myocarditis is most often caused by?

Answer 8

Enteroviruses, particularly coxsackie viruses A and B.

Question 9

What is the characteristic microscopic finding in cardiac allograft vasculopathy?

Answer 9

Concentric intimal proliferation.

Cardiac allograft vasculopathy is the limiting factor for long-term success of cardiac transplantation.

Question 10

What syndrome is cardiac rhabdomyoma associated with?

Answer 10

It is associated with tuberous sclerosis (TSC1 - hamartin and TSC2 genes - tuberin).

Question 11

What other benign tumor is associated with tuberous sclerosis?

Answer 11

Angiomyolipoma

Question 12

What is the characteristic cell in cardiac rhabdomyoma?

Answer 12

Spider cell

Question 13

What is the most common mutation in hereditary hemachromatosis?

Answer 13

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.

Question 14

What stain would you use to highlight iron?

Answer 14

Prussian blue

Question 15

What is the infectious agent in Chagas disease?

Answer 15

Trypanosoma cruzi

Question 16

What is the vector of Chagas disease?

Answer 16

Reduviid “kissing bug”

Question 17

How do you distinguish Trypanosoma cruzi from Toxoplasma gondii?

Answer 17

Trypanosoma amastigotes have a distinct kinetoplast

Question 18

What amino acid metabolism defect is associated with ochronosis of the heart valves?

Answer 18

Alcaptonuria (autosomal recessive)

Question 19

Name two other common mutations implicated in hypertropic cardiomyopathy.

Answer 19

Myosin binding protein C (20%) and cardiac troponin T (15%).

Question 20

Name two common causes of dilated cardiomyopathy.

Answer 20

Viral myocarditis and alcohol use.

Question 21

Patients with cardiac amyloidosis typically present with this type of dysfunction.

Answer 21

Diastolic dysfunction (restrictive cardiomyopathy).

Question 22

What is the most common inheritance pattern of dilated cardiomyopathy?

Answer 22

Autosomal dominant

Question 23

How long ago did an infarct showing soft, yellow-tan tissue with hyperemic border occur?

Answer 23

3 to 7 days ago

Infarcted tissue shows dead myofibers and neutrophils with an infiltration of macrophages beginning at the edge of the lesion.

Question 24

Which picture organism is more common in the setting of prosthetic valves?

Answer 24

Staphylococcus epidermidis

Question 25

Which organisms are more likely to be seen in culture negative endocarditis?

Answer 25

HACEK organisms

Hemophilus, Aggregatibacter, Cardiobacterium, Eikenella, and Kingella

Question 26

What classic condition is associated with a continuous murmur?

Answer 26

Patent ductus arteriosus

Question 27

Which condition is associated with a mid systolic click?

Answer 27

Mitral valve prolapse

Question 28

What is the causative agent of rheumatic heart disease?

Answer 28

Streptococcus pyogenes (group A or beta-hemolytic streptococcus)

Question 29

What is the most common cause of mitral stenosis?

Answer 29

Rheumatic heart disease

Question 30

What condition imparts a “fish mouth” appearance of the mitral valve?

Answer 30

Rheumatic heart disease

Question 31

What is the gene(s) in hypertrophic cardiac myopathy?

Answer 31

MYH7, beta-myosin heavy chain (14q12)

MYBPC3, myosin binding protein C (11p11.2)

TNNT2, troponin T(1q32)

Question 32

What is the gene associated with dilated cardiomyopathy?

Answer 32

MYH7, beta myosin heavy chain (14q12): Autosomal dominant

DMD, dystrophin (Xp21): X linked

Question 33

What is the gene associated with long QT syndrome?

Answer 33

KCNQ1, potassium or sodium channel subunits (7q35–36 or 11p15.5): Autosomal dominant

Question 34

What is the gene associated with Naxos syndrome?

Answer 34

Plakoglobin (17q21): autosomal recessive

Question 35

What is the gene associated with myxoma?

Answer 35

TSC1, hamartin (9q34) & TSC2, tuberin (16p13.3)

Aka tuberous sclerosis

Question 36

What is the gene associated with the cardiac fibroma?

Answer 36

PTC, transmembrane protein (9q22.3)