Diagnosis, prevalence, and screening of familial dilated cardiomyopathy.

INTRODUCTION: Dilated cardiomyopathy (DCM) is the most common cardiomyopathy and occurs often in families. As an inherited disease, understanding the significance of diagnostic procedures and genetic screening within families is of utmost importance.

AREAS COVERED: Genetic studies have shown that in 30-40% of familial DCM (FDC) cases a causative genetic mutation can be identified. Successful genetic analysis is highly dependent on close examination of patient and family history, and clinical guidelines exist recommending genetic testing to aid in the evaluation of family members at risk of developing FDC. Clinical genetic testing offers a resource for families to identify the etiology of their disease, and in some cases may provide clinical prognostic insight.

EXPERT OPINION: As an inherited disease, future FCD studies will focus on elucidating the remaining 60-70% of genetic causes in inherited cases and the pathogenic mechanisms leading to the phenotype. Specifically, a focus on regulatory regions, copy number variation, genetic and environmental modifiers and functional confirmatory investigations will be essential.