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Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

I. Van Gucht, A. Krebsova, BR. Diness, S. Laga, D. Adlam, M. Kempers, NJ. Samani, TR. Webb, AA. Baranowska, L. Van Den Heuvel, M. Perik, I. Luyckx, N. Peeters, P. Votypka, M. Macek, J. Meester, L. Van Laer, A. Verstraeten, BL. Loeys

. 2021 ; 22 (13) : . [pub] 20210701

Language English Country Switzerland

Document type Case Reports, Journal Article

Persistent link   https://www.medvik.cz/link/bmc21025452

Grant support
FFB190208 Universiteit Antwerpen
G042321N Fonds Wetenschappelijk Onderzoek
G040221N, Fonds Wetenschappelijk Onderzoek
G044720N Fonds Wetenschappelijk Onderzoek
2013T093 Dutch Heart Foundation
ERC-COG-2017-771945) European Research Council - International
12X8520N Fonds Wetenschappelijk Onderzoek
1S70419N Fonds Wetenschappelijk Onderzoek
1S81820N Fonds Wetenschappelijk Onderzoek
769036 European 398 Reference Network on rare multisystemic vascular disorders

Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in LOX, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we identified five additional probands carrying LOX variants, including two missense variants affecting highly conserved amino acids in the LOX catalytic domain and three truncating variants. Connective tissue manifestations are apparent in a substantial fraction of the variant carriers. Some LOX variant carriers presented with TAAD early in life, while others had normal aortic diameters at an advanced age. Finally, we identified the first patient with spontaneous coronary artery dissection carrying a LOX variant. In conclusion, our data demonstrate that loss-of-function LOX variants cause a spectrum of aortic and arterial aneurysmal disease, often combined with connective tissue findings.

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$a Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in LOX, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we identified five additional probands carrying LOX variants, including two missense variants affecting highly conserved amino acids in the LOX catalytic domain and three truncating variants. Connective tissue manifestations are apparent in a substantial fraction of the variant carriers. Some LOX variant carriers presented with TAAD early in life, while others had normal aortic diameters at an advanced age. Finally, we identified the first patient with spontaneous coronary artery dissection carrying a LOX variant. In conclusion, our data demonstrate that loss-of-function LOX variants cause a spectrum of aortic and arterial aneurysmal disease, often combined with connective tissue findings.
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$a Krebsova, Alice $u Department of Cardiology, IKEM, Praha 4, 14021 Prague, Czech Republic
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