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Next-Generation Sequencing Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese Patients

Yan Wang1,2, Bo Han3,4, Youfei Fan2

  • 1Department of Pediatrics, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250021, Shandong, People's Republic of China.

Pediatric Cardiology
|August 5, 2021
PubMed

Insights

Genetic mutations cause one-third of pediatric dilated cardiomyopathy (DCM) cases. Titin (TTN) gene variants are significant, and genetic testing aids in predicting DCM severity and recurrence risk.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a serious heart condition in children, leading to heart failure and sudden death.
  • Genetic causes of pediatric DCM are not well understood, particularly in the Chinese population.
  • Previous research focused on adult DCM genetics, leaving a gap in pediatric genetic insights.

Purpose of the Study:

  • To investigate the genetic landscape of dilated cardiomyopathy in pediatric patients.
  • To identify genotype-phenotype correlations in pediatric DCM.
  • To assess the role of Titin (TTN) gene mutations in pediatric DCM.

Main Methods:

  • Next-generation sequencing (NGS) was used for genetic analysis.
  • 46 pediatric DCM patients were included in the study.
  • Pathogenic mutations in genes affecting sarcomere, desmosome, and cytoskeleton were identified.

Main Results:

  • DCM-associated pathogenic mutations were found in 10 genes.
  • Six pathogenic mutations, including 5 novel ones, were identified in the Titin (TTN) gene.
  • Approximately one-third of pediatric DCM cases were attributed to genetic mutations.

Conclusions:

  • Genetic mutations are a significant cause of pediatric DCM.
  • Titin (TTN) variants play a crucial role and require careful consideration.
  • Genetic testing is valuable for prognosis, risk assessment, and family screening in pediatric DCM.

Keywords:
Dilated cardiomyopathyGenetic testingMutationPediatric patientTitin

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