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(Circulation. 2005;112:293-296.)
© 2005 American Heart Association, Inc.

Special Report

Current Concepts of the Pathogenesis and Treatment of Hypertrophic Cardiomyopathy

Robert Roberts, MD; Ulrich Sigwart, MD

From the Baylor College of Medicine, Houston, Tex (R.R.), and the Centre and Division of Cardiology, University Hospital, Geneva, Switzerland (U.S.).

Correspondence to Robert Roberts, MD, FACC, 40 Ruskin St, Ottawa, Ontario K1Y 4W7, Canada.

Key Words: cardiomyopathy • hypertrophy • genetics • death, sudden • ablation, alcohol

An extract of the first 250 words of the full text is provided, because this article has no abstract.

	Introduction

 
Hypertrophic cardiomyopathy (HCM), a relatively common genetic disease, is the most common cause of sudden cardiac death (SCD) in young people. The estimated prevalence is 1 in 500. The proportion of individuals inheriting the disease (familial) as opposed to developing a de novo mutation (sporadic) remains to be determined. Nevertheless, because all HCM is genetic in origin, even individuals with the sporadic form will transmit the gene to their offspring and become part of the familial pool. Cases with outflow tract obstruction are referred to as hypertrophic obstructive cardiomyopathy (HOCM) and those without obstruction as HCM. Symptoms occur earlier and are more severe in patients with obstruction.¹ The overall annual death rate in patients with HCM is estimated at 1%/year, whereas that in patients with HOCM is 2%/year, with the risk of stroke being 4-fold greater than it is in patients with HCM.¹

	Pathogenesis

 
HCM is characterized by hypertrophy and fibrosis occurring without known cause. The primary abnormality responsible for HCM is a genetic defect. The pattern of inheritance is autosomal dominant, which means that only one of the alleles is defective. The mechanism remains somewhat controversial. The proposed predominant mechanism is that the defective allele acts as a poisonous peptide, which interferes with the normal allele, referred to as a dominant negative. Another mechanism is a gain of function that dominates the normal function. A final mechanism is haploinsufficiency, in which the remaining normal allele provides insufficient protein to perform the function required. The genes responsible for HCM are listed . . . [Full Text of this Article]

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