Family History of Sudden Cardiac Death

A 35-year-old woman with a family history of sudden cardiac death comes for cardiac evaluation (Videos 15-1 to 15-5 and Figs. 15-1, 15-2, 15-3 and 15-4).

Figure 15-1.

Figure 15-2. Pulse and continuous wave Doppler, mitral inflow.

Figure 15-3. Pulmonary vein flow.

Figure 15-4. LVOT peak PGr = 67.1 mm Hg.

QUESTION 1. This echocardiogram demonstrates findings most consistent with:

A. Hypertrophic cardiomyopathy (HCM)

B. Pompe disease

C. Hypertensive cardiomyopathy

D. Discrete membranous subaortic stenosis

View Answer

ANSWER 1: A. The patient has asymmetric septal hypertrophy, SAM, and LVOT gradient.

QUESTION 2. Echocardiogram findings include which of the following (select all that apply)?

A. Systolic anterior motion of the mitral valve (SAM)

B. Cavity obliteration

C. Bright subendocardial stripe

D. Color Doppler demonstrating a concomitant mitral regurgitation (MR) and increased left ventricular outflow tract (LVOT) velocities

E. Echogenic structure consistent with an implantable defibrillator

View Answer

ANSWER 2: A, B, D, E. A bright subendocardial stripe, which is not present, is associated with Fabry disease. A defibrillator was placed, as this patient had multiple risk factors for sudden cardiac death including family history, episodes of syncope, and ventricular tachycardia on a Holter monitor.