Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections

Guoyan Zhu1, Mingyao Luo2, Qianlong Chen1

  • 1State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China.

Summary

Genetic analysis identified new mutations in the LTBP3 gene in patients with thoracic aortic aneurysm and dissection (TAAD). This finding expands the known genetic causes of TAAD and suggests LTBP3 should be included in routine genetic testing for the condition.

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