An autopsy case of sudden unexpected death with Barlow's disease

Yukiko Hata, Naoko Tomita, Atsushi Shibata, Shigeki Yokoyama, Kazuaki Fukahara, Naoki Nishida*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


A 45-year-old man was clinically diagnosed with mitral valve regurgitation 2 years before death. The autopsy showed left ventricular hypertrophy and mitral valve prolapse of the bileaflet with billowing valve and excessively thickened leaflet, the findings of which were consistent with Barlow's disease. Microscopically, destruction of the 3-layer structure of the mitral valve and advanced interstitial fibrosis of the left ventricular wall were evident. Additionally, a marked but limited reduction in conduction fibers was found in the branching point of the left and right branches, as seen in cases of idiopathic complete atrioventricular block. Genetic investigation using whole-exome sequencing showed some genetic variants with uncertain significance. In patients with Barlow's disease, a marked reduction of conduction fibers might be a subtype of sudden cardiac death. The overlap of some arrhythmogenic substrate in the heart may increase the risk of sudden cardiac death with asymptomatic Barlow's disease.

Original languageEnglish
Article number107462
JournalCardiovascular Pathology
StatePublished - 1 Nov 2022


  • Barlow's disease
  • Conduction system
  • Mitral valve prolapse
  • Next-generation sequencing
  • Sudden unexpected death

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cardiology and Cardiovascular Medicine


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