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Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children

Dina A Mehaney1,2, Alireza Haghighi3,4,5,6, Amira K Embaby1

  • 1Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

Cardiology in the Young
|May 26, 2021
PubMed

Insights

Genetic analysis of Egyptian children with cardiomyopathy revealed a low detection rate of known pathogenic variants. This suggests novel genetic causes may be involved, especially given high consanguinity rates, necessitating broader genetic testing approaches.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Pediatric cardiomyopathy is a leading cause of heart failure in children, often progressive and fatal.
  • The genetic underpinnings of pediatric cardiomyopathy remain largely uncharacterized.
  • High-throughput sequencing technologies offer potential for improved genetic diagnosis.

Purpose of the Study:

  • To investigate the genetic basis of cardiomyopathy in Egyptian pediatric patients.
  • To identify genetic variants associated with idiopathic primary dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy in this population.

Main Methods:

  • A cohort of 68 Egyptian children (58 with idiopathic primary dilated cardiomyopathy, 10 with left ventricular noncompaction cardiomyopathy) was studied.
  • Targeted next-generation sequencing was employed to analyze cardiomyopathy-associated genes.
  • Clinical data including family history and consanguinity were collected.

Main Results:

  • High rates of consanguinity were observed (53% in dilated cardiomyopathy, 70% in left ventricular noncompaction).
  • A positive family history was reported in 28% and 10% of respective groups.
  • Twenty-nine rare variants were identified in 25 patients, including two likely pathogenic variants (in TNNI3 and TTN) and 27 variants of uncertain significance, explaining only 2.9% of cases.

Conclusions:

  • The low diagnostic yield suggests that novel genes or variants are likely responsible for pediatric cardiomyopathy in Egypt, exacerbated by high consanguinity.
  • This study serves as a foundational genetic report for Egyptian pediatric cardiomyopathy.
  • Whole exome or genome sequencing may be more effective than targeted sequencing for identifying causative variants in these patients.
Abstract

Keywords:
Dilated cardiomyopathyEgyptleft ventricular noncompaction cardiomyopathynext-generation sequencingpaediatrics

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