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Familial dilated cardiomyopathy: assessment of left ventricular systolic and diastolic function using Doppler tissue imaging in asymptomatic relatives with left ventricular enlargement
  1. Y Matsumura1,
  2. P M Elliott1,
  3. N G Mahon1,
  4. M S Virdee1,
  5. Y Doi2,
  6. W J McKenna1
  1. 1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, UK
  2. 2Department of Medicine and Geriatrics, Kochi Medical School, Kochi, Japan
  1. Correspondence to:
    Dr Yoshinori Doi
    Department of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi, 783–8505, Japan; ydoi{at}med.kochi-u.ac.jp

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Dilated cardiomyopathy (DCM) has been recognised as a familial condition in a proportion of cases.1 Left ventricular enlargement (LVE) with normal systolic function is common in asymptomatic relatives of patients with familial DCM; these relatives do not fulfil the diagnostic criteria for DCM. Many such relatives go on to develop overt DCM.1 Although LV fractional shortening is by definition normal in relatives with LVE, the implication that these relatives have underlying myocardial pathology2 would suggest that subtle LV systolic and diastolic abnormalities are detectable with appropriate techniques. We hypothesised that Doppler tissue imaging (DTI),3,4 might reveal subtle abnormalities of systolic and diastolic function that may help to predict asymptomatic relatives with LVE that will go on to develop DCM. The aim of this study was to characterise LV systolic and diastolic function in asymptomatic relatives with LVE, using DTI and conventional echocardiographic techniques.

METHODS

Sixteen asymptomatic relatives with LVE (mean (SD) age 37 (13) years), from 15 families attending a referral centre between 1998 and 1999, underwent echocardiography and were compared with 22 patients with DCM (mean age 43 (9) years) undergoing follow up evaluation during the same time period. The majority of patients with DCM were in New York …

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