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

Autor: Asokan KL; University of Texas Health Science Center at Houston TX., Landes JR; University of Texas Health Science Center at Houston TX., Renders W; Ghent University Hospital Ghent Belgium., Muiño Mosquera L; Ghent University Hospital Ghent Belgium., De Backer J; Ghent University Hospital Ghent Belgium., Jantzen DW; University of Nebraska Medical Center Omaha NE., Yetman AT; University of Nebraska Medical Center Omaha NE., Teixido-Tura G; University Hospital Vall d'Hebron Barcelona Spain., Evangelista A; University Hospital Vall d'Hebron Barcelona Spain., Jeremy R; University of Sydney Australia., Jones EG; Texas Children's Hospital Houston TX., Morris S; Texas Children's Hospital Houston TX., Doan T; Texas Children's Hospital Houston TX., Ouzonian M; University of Toronto Canada., Braverman A; Washington University School of Medicine St Louis MO., Jondeau G; Hospital Bichat-Claude Bernard Paris France., Milleron O; Hospital Bichat-Claude Bernard Paris France., Milewicz DM; University of Texas Health Science Center at Houston TX., Prakash SK; University of Texas Health Science Center at Houston TX.
Jazyk: angličtina
Zdroj: Journal of the American Heart Association [J Am Heart Assoc] 2024 Nov 05; Vol. 13 (21), pp. e036274. Date of Electronic Publication: 2024 Oct 18.
DOI: 10.1161/JAHA.124.036274
Abstrakt: Background: Mitral annular disjunction (MAD), posterior displacement of the mitral valve leaflet hinge point, predisposes to arrhythmias or sudden cardiac death. We evaluated the burden of MAD, mitral valve prolapse (MVP), and mitral regurgitation (MR) by heritable thoracic aortic disease gene in a cross-sectional analysis of 2014-2023 data in the Montalcino Aortic Consortium registry.
Methods and Results: MAD was determined by direct measurement of echocardiographic images. MR and MVP were defined according to current clinical guidelines. Associations were evaluated using χ 2 or Fisher exact tests. MR and MVP were enriched in Montalcino Aortic Consortium participants (672) with pathogenic variants (PV) in transforming growth factor-β pathway genes. The combination of MR and MVP was associated with mitral surgery and arrhythmias. In the subgroup with available images, MAD was enriched in SMAD3 PV compared with other transforming growth factor-β PV (prevalence ratio 1.8 [1.1-2.8], P <0.02). Severe disjunction (>10 mm) was only observed in the transforming growth factor-β subgroup and was further enriched in participants with SMAD3 PV (prevalence ratio 3.1 [1.1-8.6]). MVP (prevalence ratio 5.2 [3.0-9.0]) and MR (PR 2.7 [1.8-3.9]) were increased in participants with MAD, but MAD was not independently associated with adverse cardiac or aortic events.
Conclusions: Pathological mitral valve phenotypes are more prevalent in individuals with PV in transforming growth factor-β pathway genes, particularly SMAD3 . 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.
Databáze: MEDLINE
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