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Hidden familial cardiomyopathies in children: Role of genetic testing

F Girolami1, V Spinelli1, S Passantino1

  • 1Cardiology Unit, Meyer Children's Hospital, Florence, Italy.

International Journal of Cardiology
|August 13, 2021
PubMed

Insights

Genetic testing is crucial for managing pediatric cardiomyopathies, offering insights into the condition

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Pediatric cardiomyopathies present diverse clinical and genetic features.
  • Genetic testing is vital for diagnosis and family care.
  • Challenges exist in implementing genetic testing in minors.

Purpose of the Study:

  • To highlight the significance of genetic diagnosis in pediatric cardiomyopathy management.
  • To illustrate the clinical utility of genetic testing in two pediatric cases.

Main Methods:

  • Case study approach.
  • Review of clinical data and genetic testing results for two pediatric patients with cardiomyopathy.
  • Discussion of diagnostic and management implications.

Main Results:

  • Genetic diagnosis provided critical information for patient management.
  • Identified specific genetic variants contributing to the cardiomyopathies.
  • Facilitated family counseling and potential cascade testing.

Conclusions:

  • Genetic diagnosis plays a pivotal role in the comprehensive care of children with cardiomyopathy.
  • Addressing implementation challenges is key to optimizing genetic testing in pediatric practice.

Keywords:
CardiomyopathiesCardiotoxicityCascade screeningChildrenGenetic counsellingGenetics

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