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Updated: Sep 23, 2026

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
Published on: October 28, 2020
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.
Abstract:
Idiopathic dilated cardiomyopathy is characterized by dilation and impaired contractility of one or both ventricles. Long-term prognosis is poor. Early diagnosis has the potential for substantial reduction of morbidity and mortality. Recent studies, based on echocardiographic assessment of relatives of the patients have shown that familial dilated cardiomyopathy is relatively common. The authors studied 215 relatives (mean age, 27 years; 111 male) of 38 index patients with idiopathic dilated cardiomyopathy by clinical examination, electrocardiography, and two-dimensional, M-mode and Doppler echocardiography. Seven relatives (3%) from six families were shown to have dilated cardiomyopathy. Thus, 6 of the 38 index patients (16%) had familial disease. Furthermore, left ventricular enlargement either during diastole or systole was found in 66 of 174 healthy relatives (38%). This is significantly more frequent than in our normal control population of 100 unrelated subjects studied in the same way (18%; P < .0001). These 66 relatives with left ventricular enlargement belonged to 27 of the 38 examined families (71%). Dilated cardiomyopathy was found to be familial in 16% of patients. Of the relatives examined, 41% had left ventricular abnormalities. These findings provide further evidence for a genetic background of dilated cardiomyopathy. Relatives with left ventricular enlargement may have an early stage and/or latent form of the disease.
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