Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease

• Published in: JACC. Case reports Vol. 29; no. 23; p. 102731
• Main Authors: Yoshida, Shohei, Tada, Hayato, Goten, Chiaki, Okada, Hirofumi, Sakata, Kenji, Takamura, Masayuki
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 04.12.2024; Elsevier
• Subjects: aorta; Cardiovascular; cardiovascular disease; dissection; genetic disorders; genetics; Genetics, Omics, and Tissue Regeneration; vascular disease; cardiovascular disease; CT; genetics; vascular disease; genetic disorders; aorta; NGS; dissection; computed tomography; next-generation sequencing

Hereditary thoracic aortic disease (HTAD) is a rare heritable condition with several subtypes, including Marfan syndrome (MFS), vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome (LDS). Although MFS is the most common type of HTAD caused by mutations in FBN1, differentiation from other condit...