Hidden familial cardiomyopathies in children: Role of genetic testing

Int J Cardiol. 2021 Oct 1:340:55-58. doi: 10.1016/j.ijcard.2021.08.014. Epub 2021 Aug 9.

Abstract

Pediatric cardiomyopathies harbour significant phenotypic and genetic heterogeneity. Genetic testing is essential for the initial evaluation and the ongoing care of child and family, although challenges remain regarding its appropriate clinical implementation in minors. We here discuss the key role of genetic diagnosis in the clinical management of two patients.

Keywords: Cardiomyopathies; Cardiotoxicity; Cascade screening; Children; Genetic counselling; Genetics.

MeSH terms

  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / genetics
  • Child
  • Genetic Testing*
  • Humans