Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome.

Inoue, Yosuke; Minatoya, Kenji; Oda, Tatsuya; Itonaga, Tatsuya; Seike, Yoshimasa; Tanaka, Hiroshi; Sasaki, Hiroaki; Kobayashi, Junjiro · Ann Thorac Surg · 2016

case_report · Level V

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Abstract

Loeys-Dietz syndrome (LDS) is a recently identified rare connective tissue disorder caused by mutations of the transforming growth factor-β receptors and first described in 2005. It is an autosomal dominant syndrome with 2 different phenotypic expressions-LDS I and II. LDS is characterized by the triad of arterial tortuosity and aneurysm, hypertelorism, and a bifid uvula or cleft palate. We present a case of a 9-year-old boy diagnosed with LDS who underwent urgent thoracoabdominal aortic aneurysm repair followed by total arch replacement and aortic valve-sparing root replacement (AVSRR).

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