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Familial dilated cardiomyopathy: a transverse and longitudinal clinical and echocardiographic study
C Lestuzzi1, G L Nicolosi, A Neri
1Divisione di Cardiologia, Ospedale Civile, Pordenone, Italy.
Insights
Familial dilated cardiomyopathy (DCM) affects multiple family members. Echocardiography revealed DCM in 19 of 45 relatives, suggesting genetic factors may contribute to this heart condition.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Familial hypertrophic cardiomyopathy is recognized, but familial dilated cardiomyopathy (DCM) is less understood.
- Dilated cardiomyopathy involves enlarged heart chambers, leading to impaired pumping function.
Purpose of the Study:
- To investigate the familial occurrence and potential genetic contribution to dilated cardiomyopathy.
- To assess the clinical course and echocardiographic findings in families with DCM.
Main Methods:
- Echocardiography was used to screen 45 subjects across 10 families with at least two affected members.
- Clinical and echocardiographic longitudinal follow-up, up to 11 years, was conducted in 5 families.
Main Results:
- Dilated cardiomyopathy (symptomatic or asymptomatic) was diagnosed in 19 of 45 subjects via echocardiography.
- During follow-up, 8 of 19 patients died, one improved, three remained stable, and seven were lost to follow-up.
- One borderline case normalized, while another progressed to DCM.
Conclusions:
- Findings suggest idiopathic dilated cardiomyopathy may be a multifactorial disease.
- Genetic factors appear to play a variable role in the development of familial dilated cardiomyopathy.
Abstract:
The familial occurrence of hypertrophic cardiomyopathy is well known; familial dilated cardiomyopathy has so far received less attention. Ten families with two or more members affected by dilated cardiomyopathy were studied by echocardiography. In 3 out of 10 families, a transverse study extended to even apparently healthy subjects was carried out, which included a total of 45 subjects. In 19 out of the 45, dilated cardiomyopathy (either symptomatic or asymptomatic) was diagnosed at echocardiography. Three more relatives, already dead of the disease, were identified through hospital records. A clinical and echocardiographic longitudinal study, lasting up to 11 years, was carried out in 5 of the 10 families. During the follow-up, 8 out of 19 patients who, at first examination were affected by dilated cardiomyopathy, died, one improved, 3 remained in stable condition and 7 were lost at follow-up. One of two patients who presented echocardiographic findings suggestive of border-line dilated cardiomyopathy returned to normality and the other developed dilated cardiomyopathy. The clinical and echocardiographic findings in our patients, and in their relatives, suggest the possibility that idiopathic dilated cardiomyopathy may be a multifactorial disease in which genetic factors might play a variable role.