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(Circulation. 2001;104:2113.)
© 2001 American Heart Association, Inc.

Clinical Cardiology: New Frontiers

New Concepts in Hypertrophic Cardiomyopathies, Part I

Robert Roberts, MD; Ulrich Sigwart, MD

From the Section of Cardiology (R.R.), Baylor College of Medicine, Houston, Tex, and The Royal Brompton Hospital (U.S.), London, UK.

Reprint requests to Robert Roberts, MD, Don W. Chapman Professor of Medicine, Professor of Medicine of Cell Biology, Department of Medicine, Section of Cardiology, 6550 Fannin, MS SM677, Baylor College of Medicine, Houston, TX 77030. E-mail rroberts@bcm.tmc.edu

Key Words: cardiomyopathy • hypertrophy • genetics

	Introduction

 
Familial hypertrophic cardiomyopathy (FHCM) is a disease in which the dominant and characteristic phenotype is hypertrophy without obvious cause. In adults, the cause of this disease is always genetic; however, the proportion of individuals inheriting the disease as opposed to developing a de novo mutation (sporadic) remains to be determined. Because most sporadic cases transmit the gene to 50% of their offspring and become part of the familial pool, the need for genetic analysis is similar.¹ FHCM is a single-gene disorder inherited in an autosomal-dominant pattern for which 10 genes have been identified.¹ Each of the genes encodes for a sarcomeric protein, as shown in Table 1, with mutations in the ßMHC (ß-myosin heavy chain) gene,^2,3 with MYBP-C (myosin-binding protein C) and troponin T probably accounting for 70% to 80% of all cases of FHCM.^2,3 The total number of mutations is well over 100, and new mutations continue to be identified.⁴ The majority of the mutations are single-point missense mutations, meaning a single nucleotide has been substituted, which gives rise to a change in only 1 amino acid of the protein. The remainder of the mutations are small deletions or insertions, with 1 exception being a major deletion of >2000 bases.⁵

View this table: [in this window] [in a new window]   Table 1.  HCM Genes and Their Frequencies

	Clinical Features

 
Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in the young.⁶ The recent interest in deciphering the genetics of this disease has also increased our awareness of it, and the true prevalence of the disease is now estimated at . . . [Full Text of this Article]

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