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Genetic findings in patients with primary fibrotic atrial cardiomyopathy

Yue Zhu1, Jiaojiao Shi1, Bingyu Zheng1

  • 1Division of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.

European Journal of Medical Genetics
|January 22, 2022
PubMed

Insights

Genetic analysis reveals rare variants in cardiovascular disease genes in primary fibrotic atrial cardiomyopathy (PF-ACM) patients. These variants correlate with larger left atrial dimensions, suggesting a role for genetic testing in PF-ACM.

Area of Science:

  • Cardiovascular Genetics
  • Cardiomyopathy Research
  • Atrial Electrophysiology

Background:

  • Primary fibrotic atrial cardiomyopathy (PF-ACM) is a distinct condition characterized by atrial fibrosis, arrhythmogenicity, and stroke risk, without ventricular involvement.
  • Existing research lacks comprehensive genetic analysis and genotype-phenotype correlations for PF-ACM.
  • Understanding the genetic underpinnings of PF-ACM is crucial for elucidating its pathophysiology and improving patient management.

Purpose of the Study:

  • To conduct a genetic investigation of primary fibrotic atrial cardiomyopathy (PF-ACM) in a patient cohort.
  • To identify genetic variants associated with PF-ACM and explore genotype-phenotype correlations.
  • To evaluate the potential role of genetic testing in the diagnosis and understanding of PF-ACM.

Main Methods:

  • Whole-exome sequencing (WES) was performed on 33 unrelated PF-ACM patients.
  • A cardiovascular disease (CVD)-related gene panel was used for variant screening.
  • Echocardiography, cardiac magnetic resonance (CMR), and in silico analysis were employed for phenotyping and pathogenicity evaluation.

Main Results:

  • Thirty-three rare variants in 19 CVD-related genes were identified in 21 patients; 10 patients had multiple variants.
  • TTN was the most frequently implicated gene. Sarcomeric (SV) and non-sarcomeric (NSV) gene variants were found in 16 and 10 patients, respectively.
  • Patients with variants (SV or NSV) exhibited significantly larger left atrial dimensions (echocardiography) and areas (CMR) compared to non-carriers.

Conclusions:

  • This genetic investigation identified several candidate genes contributing to the pathophysiology of primary fibrotic atrial cardiomyopathy (PF-ACM).
  • The study highlights a correlation between identified genetic variants and increased left atrial dimensions in PF-ACM patients.
  • Genetic testing may offer valuable insights into PF-ACM, aiding in diagnosis and understanding disease mechanisms.

Keywords:
ArrhythmiaCMREchocardiographyPrimary fibrotic atrial cardiomyopathyWhole-exome sequencing

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