Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Pathological mitral valve phenotypes are more prevalent in individuals with PV in transforming growth factor-β pathway genes, particularly <i>SMAD3</i>. MR and MVP but not MAD are associated with adverse aortic and cardiac events. Because congenital mitral disease may be the primary presenting feature of SMAD3 PV, genetic testing for heritable thoracic aortic disease should be considered for such individuals, especially if they also have a family history of heritable thoracic aortic disease.

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Publication Details

Journal
PubMed
Published
2024-11-05
DOI
https://doi.org/10.1161/jaha.124.036274
Primary Topic
Cardiac Valve Diseases and Treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Guillaume Jondeau, Siddharth K. Prakash, Olivier Milleron, Tam Doan et al.
PubMed
Cardiac Valve Diseases and Treatments
article

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Guillaume Jondeau, Siddharth K. Prakash, Olivier Milleron, Tam Doan, Gisela Teixidó‐Turà, Anji T. Yetman, Edward G. Jones, Shaine A. Morris, Arturo Evangelista, Jennifer R. Landes, Richmond Jeremy, Wannes Renders, Dianna M. Milewicz, Julie De Backer, David W. Jantzen, Laura Muiño Mosquera, Alan C. Braverman, Kishan L. Asokan, Maral Ouzonian
article en

Abstract

Pathological mitral valve phenotypes are more prevalent in individuals with PV in transforming growth factor-β pathway genes, particularly <i>SMAD3</i>. MR and MVP but not MAD are associated with adverse aortic and cardiac events. Because congenital mitral disease may be the primary presenting feature of SMAD3 PV, genetic testing for heritable thoracic aortic disease should be considered for such individuals, especially if they also have a family history of heritable thoracic aortic disease.

PubMedVol. 13(21)
The University of Sydney (AU), University of Toronto (CA), Washington University in St. Louis (US), Ghent University Hospital (BE), Vall d'Hebron Hospital Universitari (ES), Texas Children's Hospital (US), University of Nebraska Medical Center (US)
Temerty Family Foundation
Good health and well-being
Openalex Percentile: Top 68%
Cardiac Valve Diseases and Treatments
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