Shamar is a 15-year-old African-American teenager who is active in basketball with his high school basketball team. Recently, his father was diagnosed with nonobstructive hypertrophic cardiomyopathy (HCM). Shamar is having a screening evaluation with an HCM specialist in his area. He denies shortness of breath, chest pain, presyncope, or syncope. An electrocardiogram (ECG) is recorded (Figure 1).
Figure 1
Figure 1
His echocardiogram shows maximal wall thickness 12 mm with prominent trabeculations at the apex. There is no systolic anterior motion of the mitral valve leaflets.
Based on these results, he is sent for a cardiac magnetic resonance imaging, which shows moderate biventricular enlargement with normal biventricular systolic function associated with athletic training. There are no areas of focal hyperenhancement, consistent with the absence of scarring. There is no left ventricular hypertrophy, with maximal end-diastolic width 11 mm.
Which one of the following is correct regarding screening evaluations for those with a family history of HCM?
Show Answer
The correct answer is: D. A transthoracic echocardiogram and ECG should be performed on this patient in 1 year.
Rationale:
Following the diagnosis of HCM, all first-degree relatives (siblings, children, parents) should undergo screening. Screening should occur regardless of symptom status, as sudden cardiac death risk and symptom status may be discordant. There are two screening strategies currently recommended by the 2020 American College of Cardiology/American Heart Association (ACC/AHA) Guideline for the Diagnosis and Treatment of Patients With HCM. The first is genetic testing, although this would need to begin with the proband (the individual in the family with HCM). Genetic testing should not begin with those with unknown HCM status. The second strategy is that of serial echocardiographic surveillance, with transthoracic echocardiograms performed every year in adolescents and every 3-5 years in adults.
A single echocardiogram is not sufficient, as features of HCM can manifest later in life. Family screening in those with a family history of HCM by examination alone, by ECG, or via a combination of these strategies is not sufficient.
Educational grant support provided by: Bristol Myers Squib To visit the course page for the Hypertrophic Cardiomyopathy: Accelerating Guideline-Driven Care grant, click here.
References
Ommen S, Mital S, Burke M, et al. 2020 ACC/AHA guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol 2020;76:3022-55.
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