ReviewGuidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy
Section snippets
Definition and Prevalence
Dilated cardiomyopathy (DCM) is a myocardial disorder characterised by dilatation and contractile dysfunction of the left ± right ventricles. Dilated cardiomyopathy may be caused by a diverse range of conditions that promote cardiomyocyte injury or loss, e.g. coronary artery disease, viral myocarditis, alcohol excess. In approximately 50% cases, an underlying cause is unable to be identified. This group has traditionally been termed “idiopathic” DCM. It is now recognised that approximately
Familial DCM Disease Genes
Familial DCM is a genetically-heterogeneous disorder. To date, nearly 40 chromosomal loci have been associated with various forms of autosomal dominant DCM, with the disease-causing genes identified in >30 of these loci. These disease genes encode a variety of proteins in the cardiomyocyte sarcomere, cytoskeleton, sarcolemma, and nucleus. These findings indicate that diverse molecular mechanisms may underlie familial DCM.
Genetic Testing
Despite the relatively large number of genes identified, mutations in the
Affected Individuals
Clinically-affected family members with DCM should receive standard pharmacological management as indicated by the severity of symptoms and signs of heart failure. In families with DCM and conduction-system disease, young family members who present with conduction-system disturbances (sinus bradycardia, atrioventricular conduction block, ± atrial fibrillation) should be followed for arrhythmias that might necessitate pacemaker implantation and for the onset of DCM in later life.
Acknowledgement
D. Fatkin was supported by an NHMRC Senior Research Fellowship (404808).
Reference (1)
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Molecular mechanisms of inherited cardiomyopathies
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