The lysyl oxidase (LOX) gene encodes the extracellular enzyme lysyl oxidase, which is essential for cross-linking collagen and elastin, key structural proteins that maintain connective tissue stability. Pathogenic variants in the LOX gene are associated with familial thoracic aortic aneurysms. A five-year-old male presented to the emergency room with upper respiratory tract symptoms. A chest radiograph showed a markedly enlarged mediastinum. Further studies revealed a 9-cm thoracic aortic aneurysm confined to the ascending aorta. The child underwent successful surgical intervention.
PoniskaJPrlczar-PlachtaWPollakA, et al.Double heterzygous pathologic variants in LOX and PKD1 genes in a 5 year-old pateint with thoracic aportic aneurysm and polycystic kidney disease. Genes (Basel). 2023;14(11):1963. doi:10.3390/genes14111983
OnoMGoerlerHBoethigD, et al.Current surgical management of ascending aortic aneurysm in children and young adults. Ann Thorac Surg. 2009;88(5):1527-1533.
5.
MorrisSAFlyerJNYetmanAT, et al.Cardiovascular management of aortopathy in children: A scientific statement from the American Heart Association. Circulation. 2024;150(11):e228-e254. doi:10.1161/CIR.0000000000001265
6.
KarakurtC. Aortic aneurysm in children and adolescents. In: Amalinei C, ed. Aortic Aneurysm - Recent Advances, 2013. IntechOpen; 2013. Available at: https://doi.org/10.5772/53383. Accessed 1/4/2026.
7.
ZhangNPuJWangC. A 14.6 cm pediatric aortic monster: first LOX mutation shattering size records in childhood thoracic aortic aneurysm and dissection. Eur Heart J. 2025;46:15-22. doi:https://doi.org/10.1093/eurheartj/ehaf333
