Diastolic ventricular dysfunction as a marker for hypertrophic cardiomyopathy in a family with a novel alpha-tropomyosin mutation. J Am Soc Echocardiogr 2003 Jun;16(6):698-702
Date
06/05/2003Pubmed ID
12778034DOI
10.1016/s0894-7317(03)00285-2Scopus ID
2-s2.0-0041909739 (requires institutional sign-in at Scopus site) 6 CitationsAbstract
BACKGROUND: Early identification of familial cases of hypertrophic cardiomyopathy (HCM) depends on screening echocardiography, but hypertrophy may not be the most sensitive marker for the disease. We report the echocardiographic findings of a family with HCM and a newly reported mutation in the gene (TPM1) encoding alpha-tropomyosin.Methods and results An 8-year-old girl had sudden cardiac death, and was found to have HCM and a novel L185R-TPM1 mutation on postmortem examination. Screening echocardiograms and DNA analyses were performed on her family. Of the 5 remaining family members, 3 were genetically affected. Those without the TPM1 mutation had normal echocardiographic results. The only echocardiographic finding that identified all 3 of the gene-positive family members was an abnormal left ventricular diastolic filling pattern.
CONCLUSION: Abnormal left ventricular diastolic filling patterns, indicating diastolic dysfunction, may provide an early marker for the diagnosis of familial HCM in children, even in the absence of left ventricular hypertrophy.
Author List
Earing MG, Ackerman MJ, O'Leary PWMESH terms used to index this publication - Major topics in bold
AdultCardiomyopathy, Hypertrophic
Child
Child, Preschool
Diastole
Echocardiography
Female
Humans
Male
Mutation
Tropomyosin
Ventricular Dysfunction, Left
