A Huge Aneurysm of the Ascending Aorta in a Young Male with Marfan Syndrome: “Giant Aorta-Great Heart”

Özet

Marfan syndrome, described in the 19th century, is a connective tissue disease inherited as an autosomal dominant, owing to mutations in the FBN1 gene encoding fibrillin-1. Marfan syndrome involves the cardiovascular, ocular, and skeletal systems. Although Marfan syndrome is inherited as an autosomal dominant with high penetrance, about 30% of cases are due to sporadic mutation. A 34-yearold man with no prior medical history presented with worsening exercise dyspnea. On physical examination, he was tall stature, he had myopia, pectus deformity, pes planus, the wrist and thumb signs. His cardiac examination revealed a grade 3/6 early diastolic murmur over the aortic area. Transthoracic echocardiography revealed a severely dilated left ventricle (left ventricular end diastolic diameter and volume; 9.0 cm, 520 mL respectively), a giant ascending aorta measuring 11.0 cm and reduced systolic function (left ventricular ejection fraction 50%). A computed tomography angiography imaging which was ordered to exclude aortic dissection and assess the extent of aortic dilation showed an aortic diameter of 11.6x11 cm at the widest point without any dissection flap. The patient was diagnosed as having Marfan syndrome according to the Ghent criteria and underwent Benthall procedure. In the literature, huge aneurysm of the ascending aorta without dissection is extremely rare, and the current case with a giant aneurysm of approximately 12 cm has been treated uneventfully. In conclusion, such huge aortic aneurysms could be asymptomatic and silent for many years until severe aortic regurgitation and aortic dissection occurs.