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Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

J. Rodrigues Bento, A. Krebsová, I. Van Gucht, I. Valdivia Callejon, A. Van Berendoncks, P. Votypka, I. Luyckx, P. Peldova, S. Laga, M. Havelka, L. Van Laer, P. Trunecka, N. Boeckx, A. Verstraeten, M. Macek, JAN. Meester, B. Loeys

. 2022 ; 43 (12) : 1824-1828. [pub] 20220716

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc22032497

Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies. We here report two families with segregating JAG1 variants that present with isolated aneurysmal disease, as well as the first histological evaluation of aortic aneurysm tissue of a JAG1 variant carrier. Our observations shed more light on the pathomechanisms behind aneurysm formation in JAG1 variant harboring individuals and underline the importance of cardiovascular imaging in the clinical follow-up of such individuals.

Citace poskytuje Crossref.org

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$a Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies. We here report two families with segregating JAG1 variants that present with isolated aneurysmal disease, as well as the first histological evaluation of aortic aneurysm tissue of a JAG1 variant carrier. Our observations shed more light on the pathomechanisms behind aneurysm formation in JAG1 variant harboring individuals and underline the importance of cardiovascular imaging in the clinical follow-up of such individuals.
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$a Krebsová, Alice $u Department of Cardiology, Center for Inherited Cardiovascular Disorders, Institute for Clinical and Experimental Medicine (IKEM), Prague, Czech Republic
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$a Van Gucht, Ilse $u Centre of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium
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$a Valdivia Callejon, Irene $u Centre of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium
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