Clinical utility of genetic testing in patients with dilated cardiomyopathy

Med Clin (Barc). 2021 May 21;156(10):485-495. doi: 10.1016/j.medcli.2020.05.067. Epub 2020 Aug 19.
[Article in English, Spanish]


Introduction and objectives: Dilated cardiomyopathy (DCM) is the most frequent cause of heart transplantation. The prevalence of familial disease can reach 50%. Our objective was to describe the genetic basis of DCM in a cohort with a high proportion of transplanted patients.

Methods: We included patients with DCM and genetic testing performed using next-generation sequencing (NGS) that included at least 80 genes. Clinical data, family history and genetic results were retrospectively analysed. When possible, assessment of first-degree relatives was carried out.

Results: Eighty-seven DCM patients and 308 relatives from 70 families were evaluated. Clinical prevalence of familial disease was 37% (32 patients). Forty-four percent of patients (38 patients) had required heart transplantation. A relevant variant was found in 43 patients (49%), 25 patients (29%) carried variants of unknown significance and in 19 patients (22%) the study was negative. Most genetic variants were found in sarcomeric genes and the yield of genetic testing was higher in patients with familial DCM.

Conclusions: The yield of genetic testing in our DCM cohort was high, reaching 69% in familial cases. Mutational spectrum was heterogeneous and the identification of the specific aetiology of the disease often provided prognostic information.

Keywords: Dilated cardiomyopathy; Estudio genético; Genetic testing; Heart transplant; Miocardiopatía dilatada; Mutación; Mutation; Trasplante cardiaco.

MeSH terms

  • Cardiomyopathy, Dilated* / diagnosis
  • Cardiomyopathy, Dilated* / genetics
  • Genetic Testing
  • Heart Transplantation*
  • Humans
  • Mutation
  • Retrospective Studies