familial hypertrophic cardiomyopathy


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fa·mil·i·al hy·per·tro·phic car·di·o·my·op·a·thy

[MIM*192600]
familial occurrence of hypertrophic cardiomyopathy exhibiting an autosomal dominant pattern of inheritance. Familial cardiomyopathy of various kinds occurs with autosomal dominant inheritance [MIM*115200]. There is also an asymmetric form affecting the ventricles and the interventricular septum [MIM*192600].

hypertrophic cardiomyopathy

A common (1:500) condition which causes a range of mild to severe clinical and pathologic changes, which are either symmetrical (concentric) or asymmetrical (eccentric hypertrophy), with disproportionate thickening beneath the mitral valve, seen without other cardiac disease. Half are congenital with autosomal dominant patterns of inheritance—e.g., MIM 192600, MIM 160760. Obstruction is associated with reduced venous return.

Clinical findings, young patients
Range from asymptomatic to diastolic dysfunction, dyspnea, fatigue, anginal pain, syncope, an increased risk of severe obstruction, congestive heart failure, sudden death simulating acute myocardial infarction.

Clinical findings, older patients
Shortness of breath, anginal pain, syncope.

EKG Increased
QRS complexes, T-wave inversion, Q waves in inferior and left-precordial leads—which translate into asymmetric hypertrophy of the septum (usually of left side), systolic anterior movement of mitral valve, and midsystolic closure of aortic valve.

Adverse associations
Ethanol in patients with HC increases systolic blood pressure, and the pressure gradient across left ventricular outflow tract.

Management
• Symptomatic—i.e., relief of dyspnoea or chest pain.
• Drugs—beta-adrenergics are effective short-term, calcium channel blockers (which increase diastolic ventricular filling) may be effective long-term.
• Surgery—recalcitrant cases may need a transaortic ventricular septal myotomy-myectomy.

familial hypertrophic cardiomyopathy

An uncommon disease that is a common form of obstructive cardiomyopathy Clinical Angina, arrhythmia, dyspnea, syncope, possibly, sudden death by young adulthood Diagnosis EKG–asymmetric hypertrophy of the septum–usually of left side, systolic anterior movement of mitral valve, and midsystolic closure of aortic valve

fa·mil·i·al hy·per·tro·phic car·di·o·my·op·a·thy

(fă-mil'ē-ăl hī'pĕr-trō'fik kahr'dē-ō-mī-op'ă-thē)
Familial form of hypertrophic cardiomyopathy.
References in periodicals archive ?
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
With tissue Doppler imaging, familial hypertrophic cardiomyopathy might be diagnosable before left ventricular hypertrophy develops, Dr.

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