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Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction

Natsuko Inagaki1,2, Takeharu Hayashi3, Yasuyoshi Takei1

  • 1Department of Cardiology, Tokyo Medical University, Tokyo, Japan.

Journal of Human Genetics
|September 13, 2018
PubMed

Insights

Hypertrophic cardiomyopathy with mid-ventricular obstruction (HCM-MVO) is a high-risk subtype. Genetic analysis revealed cardiomyopathy-associated genetic variants in 44% of patients, suggesting diverse etiologies.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is defined by unexplained left ventricular hypertrophy.
  • The specific subtype, HCM with mid-ventricular obstruction (HCM-MVO), presents unique clinical characteristics.

Purpose of the Study:

  • To investigate the clinical and genetic factors associated with HCM-MVO.
  • To determine the prevalence of adverse events and genetic variants in HCM-MVO patients.

Main Methods:

  • Analysis of 34 patients diagnosed with HCM-MVO.
  • Comprehensive genetic screening of 67 cardiomyopathy-associated genes.
  • Correlation of genetic findings with clinical presentation, including asymmetric septal hypertrophy (ASH).

Main Results:

  • Approximately 47% of HCM-MVO patients experienced adverse events.
  • Cardiomyopathy-associated genetic variants (CAGVs) were identified in 44% of patients across 14 genes.
  • HCM-associated CAGVs in sarcomere genes were found in 21%, while 18% carried variants linked to dilated or arrhythmogenic cardiomyopathy. CAGVs were more prevalent in patients with ASH.

Conclusions:

  • HCM-MVO represents a high-risk patient group.
  • The genetic landscape of HCM-MVO may differ from typical HCM, indicating potentially distinct underlying causes.
  • Further research into the specific genetic etiologies of HCM-MVO is warranted.

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