Left Ventricular Hypertrabeculations in an Athlete: Diagnostic Conundrum

Editor's Note: This Patient Case Quiz is based on a presentation from the 2017 Care of the Athletic Heart Meeting. Details and registration information for 2018 will be posted on ACC's Meetings page as they become available.

A 17-year-old black male high school elite athlete (basketball player) was referred for cardiology evaluation for left ventricular hypertrophy on electrocardiogram (ECG) and history of sudden death of his father. His father was hospitalized following a massive heart attack in his 30s. Although the family was told he "had the heart of a 75-year-old man," an autopsy was not performed. The paternal grandmother also had a cardiac history significant for two heart surgeries, the first being in her early 30s and the second in her 60s for a "blocked valve."

A complete 2-D echocardiogram performed at an outside hospital was reportedly normal and he was referred to the cardiomyopathy clinic given his father's history and him being an athlete. He reported being asymptomatic, very active with good exercise capacity playing basketball for many years, and regularly working out in the gym. A couple of times he felt quite tired during practice and had to sit for a few minutes with spontaneous resolution of symptoms. He reported consuming about 50-60 oz of fluids per day.

12-lead ECG showed sinus bradycardia and early repolarization without T waves changes (Figure 1). Echocardiogram showed prominent trabeculations in the left ventricle (LV). The non-compacted to compacted ratio in systole ranged 1.9-2.2 concerning for left ventricular non-compaction (LVNC) cardiomyopathy. The LV was mildly dilated with mildly depressed systolic function and measured ejection fraction (EF) by Simpson's biplane method of 48% (Video 1). The mitral valve E/A and E/E' annular velocity ratios were normal.

Figure 1

Figure 1
Figure 1. Electrocardiogram showing normal sinus rhythm with sinus bradycardia and early repolarization.

Video 1

Video 1A and 1B. Echocardiogram showing prominent trabeculations in the left ventricle (LV). The non-compacted to compacted ratio in end-systole ranges from 1.9-2.2 concerning for LV non-compaction. The LV is mildly dilated with mildly depressed systolic function (measured ejection fraction of 48% by Simpson's biplane method).

Which of the following is the next best step?

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