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

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC

ACS Applied Electronic Materials Pub Date : 2022-12-01 DOI:10.1002/humu.24433

Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A N Meester, Bart Loeys

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引用次数: 1

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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孤立的动脉瘤疾病是JAG1致病性变异个体中被低估的发现。

已知JAG1的致病变异会导致Alagille综合征(ALGS)，这是一种主要影响肝、肺、肾和骨骼的疾病。虽然心脏症状也经常在ALGS中观察到，但胸主动脉瘤仅在死后尸检中偶有报道。我们在此报告了两个分离出JAG1变异的家族，他们表现出孤立的动脉瘤疾病，并对JAG1变异携带者的主动脉瘤组织进行了首次组织学评估。我们的观察结果进一步揭示了JAG1变异携带者动脉瘤形成的病理机制，并强调了心血管成像在这些个体的临床随访中的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Electronic Materials Multiple-

CiteScore

7.20

自引率

4.30%

发文量

567