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Extreme hypertrophic cardiomyopathy
  1. B J Maron,
  2. S A Casey,
  3. A K Almquist

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A 21 year old Jamaican woman with hypertrophic cardiomyopathy (HCM) was referred for sudden death risk assessment. The initial diagnosis of HCM was made at the age of 13 years and mild exertional dyspnoea has occurred since age 15 (New York Heart Association functional class II), but without syncope or chest pain. There is no family history of HCM or sudden death.

The patient’s blood pressure was 104/60 mm Hg and a grade 3–4/6 systolic ejection murmur was present at the apex. ECG showed diffuse T wave inversion, increased R wave voltages in V5 and V6, and deep S wave in V1 and V2.

The phenotype of HCM was striking. A two dimensional echocardiogram revealed massive and diffuse left ventricular (LV) hypertrophy; posterior free wall  =  55 mm; anterolateral free wall  =  50 mm; posterior ventricular septum  =  40 mm; and anterior ventricular septum  =  32 mm. Mitral valve systolic anterior motion was marked with prolonged septal contact. Doppler estimated a 100 mm Hg LV outflow gradient at rest. The LV end diastolic dimension was 31 mm and the left atrium was 42 mm.

Based on the extreme degree of LV hypertrophy, a cardioverter-defibrillator was implanted prophylactically for primary prevention of sudden death. Over the subsequent two years, the device has not discharged.

This patient exhibits an extreme phenotypic expression of HCM exceeding virtually all other patients with this disease. The LV hypertrophy was massive and diffuse, involving all segments of the wall (⩾ 50 mm in two regions, 40 mm in one region, and predominantly involving posterior free wall), and pronounced obstruction to the LV outflow was also present under basal conditions.

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