Deck 18: Hereditary Cardiomyopathies

Question 1

If the mother is heterozygous for the HCM trait and the father is homozygous recessive, going by the most common form of inheritance of the cardiomyopathy, what is the chance that their son will have HCM?

A) 100%
B) 75%
C) 50%
D) 25%
E) 0%

Answer 1

C
Explanation: Since the most common mode of inheritance is autosomal dominant, by doing a simple Punnet square will lead to half being heterozygous, and half being homozygous recessive

Question 2

In which observable phased of ARVD/C does left ventricular involvement occur?

A) Phase 1
B) Phase 2
C) Phase 3
D) Phase 4
E) It can occur in any phase

Answer 2

E
Explanation: The four described phases of ARVD/C are: (1) concealed phase (no clinical manifestations of ARVD/C; (2) an overt electrical disorder (characterized by symptomatic arrhythmias); (3) right ventricular failure; and (4) a biventricular pump failure (resembles dilated cardiomyopathy). Left ventricle involvement can occur at any of the above stages

Question 3

Which test would be the least useful for screening degree of cardiac involvement in hereditary cardiomyopathies?

A) 12-lead ECG
B) Cardiac enzymes
C) Exercise stress test
D) Echocardiogram
E) 24-hour Holter monitoring

Answer 3

B
Explanation: Screening recommendations for persons diagnosed with ARVD/C include: annual ECG, echocardiogram, holter monitoring, and cardiac MRI. Cardiovascular testing in HCM includes echocardiogram to measure degree of LVH, exercise testing to assess blood pressure response to exercise and ambulatory monitoring for significant ventricular ectopy. Cardiac enzymes will provide the least information for cardiomyopathies, it is mostly used to detect previous or current ischemia

Question 4

One of the associated syndromes of cardiomyopathies includes _______ which is characterized by ST-segment abnormalities in leads V1-V3 and associated with ventricular fibrillation.

A) Brugada syndrome
B) Woff-Parkinson-White syndrome
C) Torsades de Pointes
D) Right bundle branch block

Question 5

Which is NOT a symptom commonly seen with cardiomyopathies such as HCM and ARVD/C?

A) Dyspnea
B) Palpitations
C) Peripheral edema
D) Fatigue
E) Syncope

Question 6

A diagnostic clue that a patient may have ARVD/C is the presence of a late diastolic, low frequency gallop sound resulting from a forceful atrial contraction. This extra heart sound is also known as ___

A) Wide split S2
B) S3
C) S4
D) Pericardial rub

Question 7

When people who inherit the mutation for cardiomyopathy don't develop the disease, it is known as

A) Reduced penetrance
B) Recessive inheritance
C) Codominance
D) Polygenic inheritance

Question 8

Which of the following is true regarding HCM and ARVD/C?

A) LVH with aortic stenosis is a high indicator of the inheritable cardiomyopathies HCM and ARVD/C
B) They are sex-linked inherited
C) Pregnant women with HCM or ARVD/C do not need care by specialized obstetricians in high-risk pregnancies
D) There is no treatment to prevent or delay disease expression

Question 9

Fabry disease

A) Affects alpha-galactosidase enzyme
B) Causes deposits of amyloid protein in the myocardium
C) Is an inherited glycogen storage disease
D) Is categorized as a pure restrictive cardiomyopathy

Question 10

Which is NOT true regarding ARVD/C?

A) It's the 2nd most common cause of sudden cardiac death
B) It is more common in those younger than 35
C) Clinical presentation includes arrhythmias, palpitations, chest pain, syncope.
D) Twelve genes are associated with it