What causes familial dilated cardiomyopathy?

Updated: Mar 02, 2021
  • Author: Vinh Q Nguyen, MD, FACC; Chief Editor: Gyanendra K Sharma, MD, FACC, FASE  more...
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Familial cardiomyopathy is a term that collectively describes several different inherited forms of heart failure. Familial dilated cardiomyopathy is diagnosed in patients with idiopathic cardiomyopathy who have 2 or more first- or second-degree relatives with the same disease (without defined etiology). Establishing a diagnosis with more-distant affected relatives (third degree and greater) simply requires identifying more family members with the same disease. Genetic screening has been recommended for patients fulfilling the above criteria.

A study by van Spaendonck-Zwarts et al suggested that a subset of peripartum cardiomyopathy is an initial manifestation of familial dilated cardiomyopathy. This may have important implications for cardiologic screening in such families. [9]

Several forms of familial cardiomyopathy have been described, and theories postulate its association with other causes of cardiomyopathy. Inheritance is autosomal dominant; however, autosomal recessive and sex-linked inheritance have been reported.

Several different genes and chromosomal aberrations have been described in studied families. Mutations include those affecting actin, a cardiac muscle fiber component; titin, a sarcomere structure scaffold; alpha- and beta-myosin heavy chains, which are sarcomeric structural proteins; troponins T, I, or C; dystrophin; and sodium channel mutations.

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