Diagnosis, prevalence, and screening of familial dilated cardiomyopathy

Abstract

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.

Keywords:

• cardiomyopathy
• dilated cardiomyopathy
• familial
• genetic testing

Declaration of interest

Support was received from the NIH grants 1R01HL116906, UL1 RR025780, R01 HL69071 to L Mestroni; K23 JL067915 and 1R01HL109209-01A1 to MRG Taylor, and the Trans-Atlantic Network of Excellence grant 14-CVD03 from the Leducq Foundation. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Notes

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