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J Thorac Cardiovasc Surg 2007;133:252-253
© 2007 The American Association for Thoracic Surgery

Brief Communication

Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: Arterial tortuosity syndrome

Department of Cardiovascular Surgery, University of Brescia Medical School, Brescia, Italy.

Received for publication June 23, 2006; accepted for publication August 25, 2006.

^_* Address for reprints: Tomaso Bottio, MD, Department of Cardiovascular Surgery, University of Brescia Medical School, Piazza Spedali Civili, 1, Brescia, Italy 25100. (Email: bottio@med.unibs.it).

The first 20% of the full text of this article appears below.

Dilation of the aortic root and the ascending aorta is a well-known cardiovascular manifestation in pediatric patients with underlying connective tissue disorders,^E1 often leading to aortic valve incompetence and to aortic dissection risk. The Bentall procedure, a preventive operation, is a low-risk operation with considerably durable outcomes.¹ Alternatively, other more conservative techniques have been proposed: aortic root remodeling and reimplantation.^2,3

Arterial tortuosity syndrome (ATS) is a rare condition with an autosomal recessive inheritance characterized by tortuosity, elongation, stenosis, and aneurysm formation in the major arteries.⁴ Approximately 35 patients from 21 families have been reported thus far worldwide. This is the first case ever reported in the literature of a patient with ATS undergoing aortic root surgery with sparing of the aortic valve.

Clinical Summary

The patient, a 19-year-old man, was of a consanguineous family. One older sibling had ATS, as well as 2 of 3 cousins.⁴ At birth, he experienced a cardiac arrest. Dilation and elongation of the ascending aorta and arch was observed, followed by abrupt narrowing of the descending thoracic aorta; pulmonary arteries were aneurysmal and tortuous. A mutation in a third member of the SLC2A family (SLC2A10) was observed in this child. According to clinical features and genetic mapping, diagnosis of ATS was accomplished.⁴ In February 2004, the aortic annulus, the sinus portion of the ascending aorta, the sinotubular junction, and the ascending aorta measured 25, 38, 27, and 30 mm, respectively. At the following examination, in January 2005, a progressive dilation . . . [Full Text of this Article]