Left ventricular enlargement is common in relatives of patients with dilated cardiomyopathy

Z T Bilinska1, E Michalak, B Kusmierczyk-Droszcz

  • 1Department of General Cardiology, National Institute of Cardiology, Warsaw, Poland.

Insights

Familial dilated cardiomyopathy is common, affecting 16% of patients. Many relatives show early signs like left ventricular enlargement, suggesting a genetic basis for this heart condition.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Idiopathic dilated cardiomyopathy (IDC) presents with ventricular dilation and impaired contractility, carrying a poor long-term prognosis.
  • Early diagnosis of IDC is crucial for reducing morbidity and mortality.
  • Recent research indicates familial dilated cardiomyopathy is prevalent, often detected through echocardiographic screening of relatives.

Purpose of the Study:

  • To investigate the prevalence of familial dilated cardiomyopathy (FDC) within families of index patients.
  • To identify early indicators of FDC in relatives through comprehensive clinical and echocardiographic assessments.
  • To provide further evidence supporting a genetic background for dilated cardiomyopathy.

Main Methods:

  • Clinical examination, electrocardiography, and advanced echocardiography (2D, M-mode, Doppler) were performed on 215 relatives of 38 IDC index patients.
  • Relatives were assessed for dilated cardiomyopathy and left ventricular abnormalities.
  • Findings were compared to a control population of 100 unrelated subjects.

Main Results:

  • Dilated cardiomyopathy was diagnosed in 7 relatives (3%) from 6 families, indicating FDC in 16% of index patients.
  • Left ventricular enlargement was observed in 38% of healthy relatives, significantly higher than the 18% in the control group (P < .0001).
  • These abnormalities were present in relatives from 71% of the studied families, suggesting widespread genetic influence.

Conclusions:

  • Dilated cardiomyopathy demonstrates a significant familial component, with 16% of cases being familial.
  • A high prevalence of left ventricular abnormalities (41%) in relatives suggests an early or latent stage of the disease.
  • These findings strongly support a genetic etiology for dilated cardiomyopathy and highlight the importance of family screening.

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