Severe Arterial Tortuosity.
Arterial tortuosity syndrome is a rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and aneurysmal formation of the large and middle-sized arteries sometimes associated with stenosis of the pulmonary arteries and/or aorta. We present three cases of severe arterial tortuosity with different manifestations. In two cases, the aortic arch was involved. Angiography showed a very tortuous aortic arch, with many loops and twists and a normal descending aorta. One required operation. The third case presented multiple severe stenoses of both pulmonary arteries with many tortuous segments. Surgical repair consisted of pulmonary artery augmentation utilizing a bovine pericardial patch from hilum to hilum.
1 Division of Cardiac Surgery, Cruces University Hospital, Barakaldo, Spain.
Alain
A
Cubero
2 Division of Pediatric Cardiology, Cruces University Hospital, Barakaldo, Spain.
Javier
J
Ayala
1 Division of Cardiac Surgery, Cruces University Hospital, Barakaldo, Spain.
Gadah
G
Hamzeh
1 Division of Cardiac Surgery, Cruces University Hospital, Barakaldo, Spain.
Andrés
A
Cortes
2 Division of Pediatric Cardiology, Cruces University Hospital, Barakaldo, Spain.
June
J
Udaondo
1 Division of Cardiac Surgery, Cruces University Hospital, Barakaldo, Spain.
José Ignacio
JI
Aramendi
D000818:Animals; D001013:Aorta, Thoracic / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D001158:Arteries / Q000002:abnormalities* / Q000601:surgery; D002417:Cattle; D000072226:Computed Tomography Angiography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007593:Joint Instability / Q000175:diagnosis* / Q000601:surgery; D008297:Male; D010496:Pericardium / Q000637:transplantation; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D012720:Severity of Illness Index; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000601:surgery; D054079:Vascular Malformations / Q000175:diagnosis* / Q000601:surgery; D014656:Vascular Surgical Procedures / Q000379:methods*
CHD; aortic arch; genetics; pulmonary arteries; vascular disease