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Genetic Testing in Pediatric Cardiomyopathy

Chalani D Ellepola1, Linda M Knight2, Peter Fischbach3

  • 1Emory University School of Medicine, Atlanta, GA, USA.

Pediatric Cardiology
|December 1, 2017
PubMed

Insights

Genetic testing in pediatric non-hypertrophic cardiomyopathy shows a 77% yield, identifying TTN mutations as common. Mutation-positive patients experienced higher rates of cardiac transplantation and death, highlighting the need for genetic data in management.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Genetic testing is recommended for dilated cardiomyopathy (DCM) but yields are less understood in non-hypertrophic forms.
  • Limited genotype-phenotype data exists for pediatric DCM patients, hindering targeted management.
  • Understanding genetic contributions is crucial for prognostication and treatment strategies in pediatric cardiomyopathies.

Purpose of the Study:

  • To evaluate the diagnostic yield of genetic testing in pediatric patients with non-hypertrophic cardiomyopathy.
  • To identify common genetic variants and their correlation with clinical outcomes in this cohort.
  • To assess the impact of genetic findings on patient management, including transplantation and mortality.

Main Methods:

  • Retrospective review of 70 pediatric non-hypertrophic cardiomyopathy probands undergoing genetic evaluation.
  • Analysis of clinical data including age at presentation, ejection fraction, and LVEDd z-score.
  • Classification of cardiomyopathy subtypes and identification of causative gene mutations, including variants of uncertain significance (VUS).

Main Results:

  • Genetic testing yielded a 77% success rate (including VUS), with TTN gene mutations being the most frequent.
  • In patients with a positive family history, the diagnostic yield for pathogenic mutations was 57%.
  • Mutation-positive patients showed significantly higher rates of cardiac transplantation (48% vs. 34%) and mortality (17% vs. 2%) compared to mutation-negative counterparts.

Conclusions:

  • Genetic testing offers a high diagnostic yield in pediatric non-hypertrophic cardiomyopathy, identifying key genes like TTN.
  • Genetic findings significantly correlate with adverse clinical outcomes, including increased need for transplantation and mortality.
  • Large-scale data analysis is essential to leverage genetic information for improved management and prognostication in pediatric DCM.

Keywords:
CardiomyopathyDilatedGeneticOutcomePediatricRestrictive

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