title: Diastolic ventricular dysfunction as a marker for hypertrophic cardiomyopathy in a family with a novel alpha-tropomyosin mutation.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departments of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: Michael G
authors.initials: MG
authors.lastname: Earing
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ackerman
authors.forename: Patrick W
authors.initials: PW
authors.lastname: O'Leary
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003971:Diastole / Q000502:physiology; D004452:Echocardiography; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D014335:Tropomyosin / Q000235:genetics*; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D014335:Tropomyosin