Lee et al. (2016) reported a family segregating autosomal dominant thoracic aortic aneurysm, in which the proband was a 39-year-old man who had a 10.5-cm ascending aortic aneurysm with contained rupture at age 19 years. He was 6 feet 8 inches tall and exhibited features of Marfan syndrome, including pectus excavatum, scoliosis, positive thumb sign, high-arched palate, dental crowding, and skin striae. The proband's mother, who had ascending aortic aneurysm with dissection at age 52 years, had also undergone repair of an abdominal hernia at age 34 and had myopia. The proband had 2 affected male cousins, 1 of whom had aortic arch dissection at age 41 years and also had an aneurysm of the hepatic artery; the other, who was 6 feet 5 inches tall, had an infrarenal abdominal aneurysm. The cousins' 73-year-old mother had normal serial echocardiograms, and arterial tortuosity seen on total body magnetic resonance angiography was deemed to be 'compatible with aging.' The maternal grandfather, who died at age 60 with emphysema, was reported to have had pectus excavatum and scoliosis. Histopathologic analysis of resected aortic tissue from both the proband and his mother showed cystic medial necrosis and fragmented external elastic lamella, with a disorganized appearance of collagen and elastic lamellae.

Reference
OMIM: Thoracic aortic aneurysms and dissection