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).
Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.
MeSH terms
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Aortic Aneurysm, Thoracic / diagnostic imaging*
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Aortic Aneurysm, Thoracic / etiology
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Aortic Aneurysm, Thoracic / surgery*
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Aortic Dissection / diagnostic imaging
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Aortic Dissection / surgery*
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Aortography / methods
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Blood Vessel Prosthesis
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Blood Vessel Prosthesis Implantation / methods*
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Cardiopulmonary Bypass / methods
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Child
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Follow-Up Studies
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Humans
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Imaging, Three-Dimensional*
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Loeys-Dietz Syndrome / complications
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Loeys-Dietz Syndrome / diagnosis
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Loeys-Dietz Syndrome / diagnostic imaging*
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Loeys-Dietz Syndrome / etiology
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Loeys-Dietz Syndrome / surgery*
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Male
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Rare Diseases
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Risk Assessment
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Thoracotomy / methods
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Tomography, X-Ray Computed / methods
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Treatment Outcome
Supplementary concepts
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Aortic aneurysm, familial thoracic 3