Cardiovascular complications of cutis laxa syndrome: successful diagnosis and surgical management.

Cutis laxa syndrome is a rare inherited connective tissue disorder characterized by inelastic loose hanging skin, which gives the appearance of premature aging. Histology shows degenerative changes in the elastic fibers of the connective tissue throughout the body. Severe aortic dilatation may occur because of medial elastic fiber degeneration. We report the case of a 27-year-old man with a confirmed diagnosis of cutis laxa syndrome. The patient, of Albanian ethnic origin, had no family history of the disease and no consanguinity between parents. All siblings, 4 brothers and 3 sisters, are well and free of disease. He was asymptomatic, but because of his loose facial skin and senile appearance (Figure 1), he consulted a dermatologist concerning having plastic surgery on his face, which he subsequently had performed. The dermatologist suspected cutis laxa and referred him for a full assessment of his condition. His ECG showed sinus rhythm with no rhythm or conduction disturbance. Chest x-ray (Figure 2A) showed abnormalities of the contours of upper right border of the heart. Echocardiography (Figure 2B and 2C) revealed an aneurysm of the right coronary sinus of Valsalva that measured 8.4 cm in diameter, associated with severe aortic regurgitation and a dilated left ventricle with dynamic systolic function. Cardiovascular magnetic resonance (Figure 2D, 2E, and 2F) showed a large right coronary sinus aneurysm (72 mm 75 mm) and a smaller noncoronary sinus aneurysm (32 mm 35 mm). The left coronary sinus was normal in appearance and dimensions. The thoracic aorta had normal dimensions distal to the sinotubular junction with no evidence of dissection. There was severe central aortic regurgitation (regurgitant fraction 44%). The left ventricle was dilated, with normal systolic function. Cardiac computed tomography (Figure 2G, 2H, and 2I) confirmed a large right coronary sinus aneurysm, measuring 8.2 cm in diameter. The right coronary artery looked patent, although it was markedly attenuated from its origin as it was stretched over the surface of the right coronary sinus; the left anterior descending coronary artery was normal. The patient was then referred urgently for resection of the right coronary sinus aneurysm, coronary reimplantation, and aortic valve replacement. At surgery, the right coronary artery, which was stretched over the aneurysm, was occluded proximally. It was subsequently reimplanted into the new aortic root with resection of the occluded segment. The aortic valve leaflets were stretched, but otherwise normal. The