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Published on: May 16, 2020
Frequency and phenotypes of familial dilated cardiomyopathy
E Grünig1, J A Tasman, H Kücherer
1University of Heidelberg, Medizinishce Klinik III, Germany.
Insights
Up to 35% of dilated cardiomyopathy (DCM) cases may be inherited. Familial DCM patients are younger at diagnosis and show distinct clinical features, suggesting genetic causes for this heart condition.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Idiopathic dilated cardiomyopathy (DCM) is often considered sporadic, with limited understanding of its familial forms.
- Previous studies on familial DCM have not well-defined specific clinical findings.
Purpose of the Study:
- To investigate the frequency and clinical characteristics of idiopathic dilated cardiomyopathy (DCM).
- To identify potential inherited patterns and distinct phenotypes within familial DCM cases.
Main Methods:
- Prospective analysis of 445 consecutive patients with angiographically proven DCM.
- Detailed family histories and pedigree construction, including examination of 970 first- and second-degree relatives.
Main Results:
- Familial DCM was confirmed in 10.8% and suspected in 24.2% of index patients.
- Patients with familial DCM were younger at diagnosis and had more electrocardiographic changes compared to non-familial cases.
- Five distinct phenotypes of familial DCM were identified, including associations with muscular dystrophy, juvenile onset, hypokinesia, conduction defects, and hearing loss.
Conclusions:
- A significant proportion of DCM cases (up to 35%) may stem from inherited disorders.
- The identification of distinct clinical phenotypes in familial DCM suggests underlying common molecular etiologies.
Objectives:
This prospective study was performed to analyze the frequency and clinical characteristics of idiopathic dilated cardiomyopathy (DCM).
Background:
Despite several previous reports on families with DCM, most cases are still believed to be sporadic, and specific clinical findings of the familial form are not well defined.
Methods:
In 445 consecutive patients with angiographically proven DCM, we obtained detailed family histories to construct pedigrees and examined 970 first- and second-degree family members.
Results:
Familial DCM was confirmed in 48 (10.8%) of the 445 index patients and was suspected in 108 (24.2%). The 156 patients with suspected or confirmed familial disease were younger at the time of diagnosis (p < 0.03) and more often revealed electrocardiographic changes (p = 0.0003) than patients with nonfamilial disease. Among the families of the 48 index patients with confirmed familial disease, five phenotypes of familial DCM could be identified: 1) DCM with muscular dystrophy; 2) juvenile DCM with a rapid progressive course in male relatives without muscular dystrophy; 3) DCM with segmental hypokinesia of the left ventricle; 4) DCM with conduction defects; and 5) DCM with sensorineural hearing loss.
Conclusions:
Up to 35% of patients with DCM may have an inherited disorder. Distinct clinical phenotypes can be observed in some families, suggesting a common molecular cause of the disease.
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