Genetic Testing for Hypertrophic Cardiomyopathy

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Abstract
The Journal recently published two papers by a group of investigators reporting their molecular genetic studies of familial hypertrophic obstructive cardiomyopathy (Dec. 19 and April 23 issues).1 , 2 Mutations in the cardiac myosin heavy-chain genes on chromosome 14 can now be identified in approximately 50 percent of families with this disorder, so that molecular genetic diagnosis is possible for the presymptomatic identification of those in whom the disease is likely to develop. Indeed, children as young as two years old have been identified by the authors as carrying the mutation.1 These technical advances were acclaimed without reserve in an editorial3 accompanying the second article.