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A case of hypertrophic cardiomyopathy presenting with high-degree atrioventricular block

Yan Gu1, Fuzhong Chen2, Chao Zhang3

  • 1Department of Cardiovascular Medicine, Zhangjiagang Second People's Hospital, Suzhou, China.

Medicine
|December 16, 2025
PubMed

Insights

This case highlights a rare instance of hypertrophic cardiomyopathy (HCM) with high-degree atrioventricular (AV) block in a young female. Genetic testing revealed dual variants, emphasizing the importance of family screening and pacemaker implantation for managing this condition.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) with high-degree atrioventricular (AV) block is infrequently documented in China.
  • This report details a unique case of a 35-year-old female presenting with progressive high-degree AV block and dual heterozygous variants in MYH7 and DES genes, expanding the known clinical-genetic spectrum of HCM.

Purpose of the Study:

  • To report a rare case of hypertrophic cardiomyopathy (HCM) with high-degree atrioventricular (AV) block in a young adult female.
  • To investigate the genetic underpinnings of this rare presentation.
  • To emphasize the importance of genetic testing, pacemaker implantation, and family screening in managing HCM with AV block.

Main Methods:

  • A case study of a 35-year-old female with a 11-year history of exertional chest pain, family history of sudden cardiac death, and progressive AV block.
  • Diagnostic evaluations included ECG, echocardiography, cardiac MRI, and genetic testing.
  • Interventions involved dual-chamber pacemaker implantation and medical management with metoprolol and spironolactone.

Main Results:

  • The patient experienced symptom relief post-pacemaker implantation with no perioperative complications.
  • Genetic testing identified dual heterozygous variants: MYH7 (highly suspected pathogenic) and DES (suspected pathogenic).
  • Family screening identified two affected individuals, indicating a hereditary component.

Conclusions:

  • Hypertrophic cardiomyopathy (HCM) with high-degree AV block necessitates comprehensive genetic evaluation.
  • Pacemaker implantation and diligent long-term monitoring are crucial for preventing sudden cardiac death in these patients.
  • Family screening is essential for accurate risk stratification and management of affected relatives.
Abstract

Keywords:
gene varianthigh-degree atrioventricular blockhypertrophic cardiomyopathypacemaker implantation

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