Heart 1999;82:621-624 ( November )

A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy

A Varnava, C Baboonian, F Davison, L de Cruz, P M Elliott, M J Davies, W J McKenna

Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK

Correspondence to: Dr Varnava

Accepted for publication 5 July 1999

AIMTo screen for a mutation of the cardiac troponin T gene in two families where there had been sudden deaths without an increase in left ventricular mass but with myocardial disarray suggesting hypertrophic cardiomyopathy.
METHODSDNA from affected individuals from both families was used to screen the cardiac troponin T gene on an exon by exon basis. Mutation screening was achieved by polymerase chain reaction and direct sequencing. Where appropriate, a mutation was confirmed by restriction digest.
RESULTSA novel missense mutation of exon 9 was found in the affected individuals of one of the families. This mutation at amino acid 94 resulted in the substitution of arginine for leucine and was not found in 100 normal control samples. A mutation of the cardiac troponin T gene was excluded in the second family.
CONCLUSIONSA mutation of the gene for the sarcomeric protein cardiac troponin T can cause familial hypertrophic cardiomyopathy with marked myocyte disarray and frequent premature sudden death in the absence of myocardial hypertrophy at clinical or macroscopic level.


Keywords: hypertrophic cardiomyopathy; troponin T

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© 1999 by Heart
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