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Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction

Shijie Li1,2, Ce Zhang1,2, Nana Liu3

  • 11 State Key Laboratory of Cardiovascular Disease Fuwai Hospital National Center for Cardiovascular Diseases Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China.

Journal of the American Heart Association
|October 30, 2018
PubMed
Summary

Genetic variants in TTN, MYH7, MYBPC3, and DSP are common in Chinese patients with left ventricular noncompaction cardiomyopathy (LVNC). Identifying these genetic mutations can help predict adverse outcomes in adult LVNC patients.

Keywords:
geneticsleft ventricular noncompactionprognosis

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Area of Science:

  • Cardiology
  • Genetics
  • Genomics

Background:

  • Left ventricular noncompaction cardiomyopathy (LVNC) presents diverse genetic and phenotypic characteristics.
  • Understanding the genetic underpinnings of LVNC is crucial for diagnosis and prognosis.

Purpose of the Study:

  • To investigate the genetic basis of LVNC in a Chinese cohort.
  • To explore genotype-phenotype correlations in patients with LVNC.

Main Methods:

  • Targeted sequencing of 72 cardiomyopathy-associated genes in 83 adults and 17 children with LVNC.
  • Variant pathogenicity assessment using ACMG recommendations.
  • Clinical data collection and analysis of primary endpoints (death, heart transplantation).

Main Results:

  • Pathogenic variants identified in 38% of patients, with TTN, MYH7, MYBPC3, and DSP being the most frequent genes.
  • Genotype-positive adults showed higher rates of atrial fibrillation, family history, and lower ejection fraction.
  • Genotype-positive status independently predicted increased risk of death and heart transplantation.

Conclusions:

  • A distinct genetic spectrum for LVNC in Chinese patients was identified.
  • Pathogenic variants in specific genes are associated with adverse outcomes in LVNC.
  • Genetic testing may assist in risk stratification for adult LVNC patients.