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Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease
Study Protocol

A Novel Human Biospecimen Repository for Clinical and Molecular Investigation of Thoracic Aortopathy

1
Riley Hospital for Children, Department of Pediatrics, Division of Cardiology, Indiana University School of Medicine, Indianapolis, IN 46202, USA
2
Department of Medical and Molecular Genetics, Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Giuseppe Limongelli and Lia Crotti
Cardiogenetics 2021, 11(3), 148-163; https://doi.org/10.3390/cardiogenetics11030017
Received: 20 August 2021 / Accepted: 6 September 2021 / Published: 18 September 2021
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
Thoracic aortic aneurysm (TAA) is a heritable aortopathy with significant morbidity and mortality, affecting children and adults. Genetic causes, pathobiological mechanisms, and prognostic markers are incompletely understood. In 2015, the Collaborative Human Aortopathy Repository (CHAR) was created to address these fundamental gaps. Patients with thoracic aortopathy, associated genetic diagnoses, or aortic valve disease are eligible for prospective enrollment. Family members and controls are also enrolled. Detailed clinical and family data are collected, and blood and aortic tissue biospecimens are processed for broad usage. A total of 1047 participants were enrolled. The mean age in 834 affected participants was 47 ± 22 (range <1 to 88) years and 580 were male (70%). A total of 156 (19%) were under the age of 21 years. Connective tissue diagnoses such as Marfan syndrome were present in 123 (15%). Unaffected participants included relatives (N = 176) and healthy aorta tissue controls (N = 37). Aortic or aortic valve biospecimens were acquired from over 290 and 110 participants, respectively. RNA and protein were extracted from cultured aortic smooth muscle cells (SMCs) for 90 participants. Over 1000 aliquots of aortic SMCs were cryopreserved. The CHAR’s breadth, robust biospecimen processing, and phenotyping create a unique, multipronged resource to accelerate our understanding of human aortopathy. View Full-Text
Keywords: thoracic aortic aneurysm; bicuspid aortic valve; aortopathy; Marfan syndrome; biobanking thoracic aortic aneurysm; bicuspid aortic valve; aortopathy; Marfan syndrome; biobanking
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MDPI and ACS Style

Vujakovich, C.E.; Landis, B.J. A Novel Human Biospecimen Repository for Clinical and Molecular Investigation of Thoracic Aortopathy. Cardiogenetics 2021, 11, 148-163. https://doi.org/10.3390/cardiogenetics11030017

AMA Style

Vujakovich CE, Landis BJ. A Novel Human Biospecimen Repository for Clinical and Molecular Investigation of Thoracic Aortopathy. Cardiogenetics. 2021; 11(3):148-163. https://doi.org/10.3390/cardiogenetics11030017

Chicago/Turabian Style

Vujakovich, Courtney E., and Benjamin J. Landis 2021. "A Novel Human Biospecimen Repository for Clinical and Molecular Investigation of Thoracic Aortopathy" Cardiogenetics 11, no. 3: 148-163. https://doi.org/10.3390/cardiogenetics11030017

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