International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)

• Published in: Circulation. Cardiovascular genetics Vol. 9; no. 6; pp. 548 - 558
• Main Authors: Jondeau, Guillaume, Ropers, Jacques, Regalado, Ellen, Braverman, Alan, Evangelista, Arturo, Teixedo, Guisela, De Backer, Julie, Muiño-Mosquera, Laura, Naudion, Sophie, Zordan, Cecile, Morisaki, Takayuki, Morisaki, Hiroto, Von Kodolitsch, Yskert, Dupuis-Girod, Sophie, Morris, Shaine A., Jeremy, Richmond, Odent, Sylvie, Adès, Leslie C., Bakshi, Madhura, Holman, Katherine, LeMaire, Scott, Milleron, Olivier, Langeois, Maud, Spentchian, Myrtille, Aubart, Melodie, Boileau, Catherine, Pyeritz, Reed, Milewicz, Dianna M.
• Format: Journal Article
• Language: English
• Published: United States American Heart Association, Inc 01.12.2016
• Subjects: Aorta, Thoracic - diagnostic imaging; Aorta, Thoracic - surgery; Aortic Diseases - diagnostic imaging; Aortic Diseases - genetics; Aortic Diseases - mortality; Aortic Diseases - surgery; Australia - epidemiology; Europe - epidemiology; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Japan - epidemiology; Kaplan-Meier Estimate; Male; Mutation; Phenotype; Pregnancy; Pregnancy Complications, Cardiovascular - diagnostic imaging; Pregnancy Complications, Cardiovascular - genetics; Pregnancy Complications, Cardiovascular - mortality; Pregnancy Complications, Cardiovascular - surgery; Prevalence; Proportional Hazards Models; Protein-Serine-Threonine Kinases - genetics; Receptors, Transforming Growth Factor beta - genetics; Registries; Retrospective Studies; Risk Factors; Severity of Illness Index; Treatment Outcome; United States - epidemiology; Vascular Surgical Procedures; aneurysm; diagnostics; aortic surgery; genetics; aortic disease; aortic dissection; human; Marfan syndrome; peripheral vascular disease; sex differences; acute aortic dissection gene

BACKGROUND—The natural history of aortic diseases in patients with TGFBR1 or TGFBR2 mutations reported by different investigators has varied greatly. In particular, the current recommendations for the timing of surgical repair of the aortic root aneurysms may be overly aggressive. METHODS AND RESULT...