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Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy

Shenghua Liu1, Yuanyuan Xie1, Hongliang Zhang2

  • 1State key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.

International Journal of Cardiology
|January 11, 2020
PubMed

Insights

Genetic screening is crucial for diagnosing left ventricular noncompaction cardiomyopathy (LVNC). Multiple genetic variants are linked to LVNC, impacting patient outcomes and cardiac fibrosis, necessitating careful follow-up for affected individuals.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Left ventricular noncompaction cardiomyopathy (LVNC) is a primary cardiomyopathy with unknown causes.
  • Symptoms vary from asymptomatic to severe heart failure, arrhythmias, and sudden cardiac death.

Purpose of the Study:

  • To investigate the genetic underpinnings and clinical outcomes of LVNC patients undergoing heart transplantation (HTx).
  • To elucidate the potential genetic pathogenesis of LVNC.

Main Methods:

  • Exome sequencing was performed on 16 HTx recipients with LVNC.
  • Clinical data, histopathology, and gene expression profiling of myocardial fibrosis were analyzed.

Main Results:

  • 14 out of 16 patients had multiple LVNC-associated gene variants; 10 had biallelic and/or truncating variants.
  • Younger patients (<18) with biallelic/truncating variants and low LVEF (<45%) showed rapid deterioration.
  • Myocardial fibrosis was prominent, with upregulated genes involved in immune inflammation and extracellular matrix remodeling.

Conclusions:

  • Multiple pathogenic variants contribute to the genetic mechanism of high-risk LVNC.
  • Genetic screening is recommended for LVNC diagnosis.
  • LVNC patients with multiple variants require close monitoring due to links with cardiac fibrosis and phenotype.
Abstract

Keywords:
Exome sequencingGeneticsLeft ventricular noncompaction cardiomyopathy

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