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Abstract Details
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
1Centre of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.
2Department of Cardiology, Center for Inherited Cardiovascular Disorders, Institute for Clinical and Experimental Medicine (IKEM), Prague, Czech Republic.
3Department of Cardiology, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.
4Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
5Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
6Department of Cardiac Surgery, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.
7Department of Hepatology and Gastroenterology, Transplant Center of Institute for Clinical and Experimental Medicine (IKEM), Prague, Czech Republic.
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 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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