Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

J Am Coll Cardiol. 2011 Apr 19;57(16):1641-9. doi: 10.1016/j.jacc.2011.01.015.


A great deal of progress has recently been made in the discovery and understanding of the genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a new diagnosis of idiopathic dilated cardiomyopathy (IDC), the clinical screening of first-degree family members will reveal FDC in at least 20% to 35% of those family members. Point mutations in 31 autosomal and 2 X-linked genes representing diverse gene ontogeny have been implicated in causing FDC but account for only 30% to 35% of genetic causes. Next-generation sequencing methods have dramatically decreased sequencing costs, making clinical genetic testing feasible for extensive panels of dilated cardiomyopathy genes. Next-generation sequencing also provides opportunities to discover additional genetic causes of FDC and IDC. Guidelines for evaluation and testing of FDC and IDC are now available, and when combined with FDC genetic testing and counseling, will bring FDC/IDC genetics to the forefront of cardiovascular genetic medicine.

Publication types

  • Review

MeSH terms

  • Animals
  • Cardiomyopathy, Dilated* / diagnosis
  • Cardiomyopathy, Dilated* / genetics
  • Genetic Testing / methods
  • Genetic Testing / trends
  • Genotype
  • High-Throughput Nucleotide Sequencing / methods
  • High-Throughput Nucleotide Sequencing / trends
  • Humans
  • Mutation / genetics
  • Phenotype

Supplementary concepts

  • Familial dilated cardiomyopathy