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Familial dilated cardiomyopathy
Elisabete Martins1, José Silva Cardoso, Cassiano Abreu-Lima
1Serviço de Cardiologia do Hospital de São João, Porto. bernardes_med@hotmail.com
Insights
Dilated cardiomyopathy, a leading cause of heart failure, is increasingly recognized as having genetic links. Research into familial dilated cardiomyopathy offers new insights into its causes and potential treatments.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is the most common cause of heart failure, characterized by ventricular dilation and reduced systolic function.
- Historically considered idiopathic, DCM now includes secondary forms (e.g., ischemic, hypertensive) and a significant familial component (up to 30% of idiopathic cases).
- Inheritance patterns vary, with autosomal dominant being most common, alongside X-linked, autosomal recessive, and mitochondrial forms.
Purpose of the Study:
- To explore the genetic underpinnings of familial dilated cardiomyopathy.
- To understand the molecular basis of cardiac dilatation and protein dysfunction in DCM.
- To highlight the importance of genetic research in advancing DCM pathogenesis understanding and treatment.
Main Methods:
- Review of existing literature on familial dilated cardiomyopathy.
- Analysis of genetic loci and protein-coding genes associated with cardiac dilatation.
- Consideration of molecular interactions contributing to disease presentation.
Main Results:
- Familial occurrence accounts for a substantial portion of idiopathic DCM cases.
- Mutations in genes encoding sarcomeric, cytoskeletal, and nuclear lamina proteins are implicated in DCM.
- Interactions between mutated proteins and environmental factors can influence clinical presentation.
Conclusions:
- Dilated cardiomyopathy has significant genetic contributions, necessitating a shift from viewing it as solely idiopathic.
- Understanding the genetic basis of DCM is crucial for developing targeted therapies.
- Recent guidelines from the European Society of Cardiology emphasize the study of familial DCM.
Abstract:
Dilated cardiomyopathy is a disorder affecting heart muscle, characterized by ventricular dilation and reduced systolic function. It represents the most common cause of heart failure. Until recently, dilated cardiomyopathy was considered an exclusively sporadic and idiopathic disease. Now, as defined by the World Health Organization, cardiomyopathy includes not only the idiopathic form, but secondary ones such as ischemic or hypertensive. It is estimated that familial occurrence accounts for 30% of cases of idiopathic dilated cardiomyopathy. The most common mode of inheritance is the autosomal dominant type. The X-linked, autosomal recessive and mitochondrial forms are less common. Different genes or loci are responsible for the cardiac dilatation, and code for sarcomeric, cytoskeleton and nuclear lamina proteins. The molecular interactions of the mutated proteins with factors such as infectious agents or alcohol could explain the variety of presenting signs and symptoms of this type of cardiomyopathy. Recently the European Society of Cardiology published a definition and a protocol for the study of familial dilated cardiomyopathies. Genetic research in the field of dilated cardiomyopathy can increase our understanding of its pathogenesis and lead to new treatment modalities for the disease.
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