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