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Cardiac Involvement in a Patient With Aortic Aneurysm, Familial Thoracic-8

Kodai Sayama1, Eisuke Usui1, Tomohiro Tahara1

  • 1Department of Cardiovascular Medicine, Tsuchiura Kyodo General Hospital, Ibaraki, Japan.

JACC. Case Reports
|November 28, 2025
PubMed

Insights

Familial thoracic aortic aneurysm-8 (AAT-8), a genetic condition, can cause severe heart failure and coronary artery issues. This case highlights novel cardiac manifestations previously unreported in AAT-8 patients.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Rare Diseases

Background:

  • Familial thoracic aortic aneurysm-8 (AAT-8) is a rare genetic aortopathy linked to PRKG1 mutations.
  • Cardiac involvement has not been previously documented in AAT-8.
Abstract

Keywords:
PRKG1aortic aneurysmcardiomyopathyfamilial thoracic-8genetic aortic diseaseheart failure

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