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Public Documents
1
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pat...
Jotte Rodrigues Bento
and 16 more
February 02, 2022
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 post-mortem 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 carriers and underline the importance of cardiovascular imaging in the clinical follow-up of JAG1 variant carrying individuals.