Thoracic aortic aneurysm in an ACVRL1 -mutation positive patient

Tanmay Anand; Rahul Kumar Chattopadhyay; Elaine Soon

doi:10.1093/ajrccm/aamag506

October 19, 2026American Journal of Respiratory and Critical Care Medicine

Thoracic aortic aneurysm in an ACVRL1 -mutation positive patient

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Key result

ACVRL1 mutations are linked to thoracic aortic aneurysm development.

Key Points

To describe the presentation of a thoracic aortic aneurysm in a patient with an identified ACVRL1 gene mutation.
Assessed the clinical and genetic characteristics of a patient harboring an ACVRL1 gene variant.
Identified the presence of a thoracic aortic aneurysm in a patient carrying an ACVRL1 mutation.
Demonstrates that ACVRL1 mutations can present with large-vessel aneurysmal disease in addition to characteristic vascular anomalies.

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Implication

May warrant aortic surveillance in ACVRL1 carriers; leaves open causality and need for prospective validation.

Abstract

Tanmay Anand, Rahul Chattopadhyay, Elaine Soon; Thoracic aortic aneurysm in an ACVRL1-mutation positive patient, American Journal of Respiratory and Critic

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Cite This Study

Anand et al. (2026) studied this question. ACVRL1 mutation positivity can be associated with the development of a thoracic aortic aneurysm.

synapsesocial.com/papers/6aee6bb371a7594806220aae https://doi.org/10.1093/ajrccm/aamag506

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Thoracic aortic aneurysm in an ACVRL1 -mutation positive patient

Key Points

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Implication

Abstract

Discussion

Cite This Study

Thoracic aortic aneurysm in an ACVRL1 -mutation positive patient

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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