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Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
Author(s) -
Rodrigues Bento Jotte,
Krebsová Alice,
Van Gucht Ilse,
Valdivia Callejon Irene,
Van Berendoncks An,
Votypka Pavel,
Luyckx Ilse,
Peldova Petra,
Laga Steven,
Havelka Marek,
Van Laer Lut,
Trunecka Pavel,
Boeckx Nele,
Verstraeten Aline,
Macek Milan,
Meester Josephina A. N.,
Loeys Bart
Publication year - 2022
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.24433
Subject(s) - jag1 , alagille syndrome , biology , aortic aneurysm , disease , lung , aneurysm , pathology , medicine , notch signaling pathway , genetics , radiology , gene , endocrinology , cholestasis
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.