Sudden death due to troponin T mutations

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dc.contributor.authorMoolman J.C.
dc.contributor.authorCorfield V.A.
dc.contributor.authorPosen B.
dc.contributor.authorNgumbela K.
dc.contributor.authorSeidman C.
dc.contributor.authorBrink P.A.
dc.contributor.authorWatkins H.
dc.date.accessioned2011-05-15T16:17:09Z
dc.date.available2011-05-15T16:17:09Z
dc.date.issued1997
dc.description.abstractObjectives. This study was designed to verify initial observations of the clinical and prognostic features of hypertrophic cardiomyopathy caused by cardiac troponin T gene mutations. Background. The most common cause of sudden cardiac death in the young is hypertrophic cardiomyopathy, which is usually familial. Mutations causing familial hypertrophic cardiomyopathy have been identified in a number of contractile protein genes, raising the possibility of genetic screening for subjects at risk. A previous report suggested that mutations in the cardiac troponin T gene were notable because they were associated with a particularly poor prognosis but only mild hypertrophy. Given the variability of some genotype:phenotype correlations, further analysis of cardiac troponin T mutations has been a priority. Methods. Deoxyribonucleic acid from subjects with hypertrophic cardiomyopathy was screened for cardiac troponin T mutations using a ribonuclease protection assay. Polymerase chain reaction-based detection of a novel mutation was used to genotype members of two affected pedigrees. Gene carriers were examined by echocardiography and electrocardiology, and a family history was obtained. Results. A novel cardiac troponin T gene mutation, arginine 92 tryptophan, was identified in 19 of 48 members of two affected pedigrees. The clinical phenotype was characterized by minimal hypertrophy (mean [± SD] maximal ventricular wall thickness 11.3 ± 5.4 mm) and low disease penetrance by clinical criteria (40% by echocardiography) but a high incidence of sudden cardiac death (mean age 17 ± 9 years). Conclusions. These data support the observation that apparently diverse cardiac troponin T gene mutations produce a consistent disease phenotype. Because this is one of poor prognosis, despite deceptively mild or undetectable hypertrophy, genotyping at this locus may be particularly informative in patient management and counseling.
dc.description.versionArticle
dc.identifier.citationJournal of the American College of Cardiology
dc.identifier.citation29
dc.identifier.citation3
dc.identifier.issn07351097
dc.identifier.other10.1016/S0735-1097(96)00530-X
dc.identifier.urihttp://hdl.handle.net/10019.1/14096
dc.subjecttroponin t
dc.subjectadolescent
dc.subjectadult
dc.subjectarticle
dc.subjectclinical article
dc.subjectelectrocardiogram
dc.subjectepidemiology
dc.subjectgene mutation
dc.subjectgenotype
dc.subjecthuman
dc.subjecthypertrophic cardiomyopathy
dc.subjectphenotype
dc.subjectpolymerase chain reaction
dc.subjectpriority journal
dc.subjectprognosis
dc.subjectsudden death
dc.subjectBiological Markers
dc.subjectCardiomyopathy, Hypertrophic
dc.subjectDeath, Sudden, Cardiac
dc.subjectGenotype
dc.subjectHumans
dc.subjectMutation
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectPrognosis
dc.subjectSurvival Analysis
dc.subjectTroponin
dc.subjectTroponin T
dc.titleSudden death due to troponin T mutations
dc.typeArticle
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