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Delsart P, Vanlerberghe C, Juthier F, et al. The natural history of a family with aortic dissection associated with a novel ACTA2 variant. Ann Vasc Surg. 2021;doi: 10.1016/j.avsg.2021.05.034.
Delsart, P., Vanlerberghe, C., Juthier, F., Sobocinski, J., Domanski, O., Longere, B., Hanna, N., Arnaud, P., & Marsili, L. (2021). The natural history of a family with aortic dissection associated with a novel ACTA2 variant. Annals of vascular surgery, . https://doi.org/10.1016/j.avsg.2021.05.034
Delsart, Pascal, et al. "The natural history of a family with aortic dissection associated with a novel ACTA2 variant." Annals of vascular surgery vol. (2021). doi: https://doi.org/10.1016/j.avsg.2021.05.034
Delsart P, Vanlerberghe C, Juthier F, Sobocinski J, Domanski O, Longere B, Hanna N, Arnaud P, Marsili L. The natural history of a family with aortic dissection associated with a novel ACTA2 variant. Ann Vasc Surg. 2021 Aug 23; doi: 10.1016/j.avsg.2021.05.034. Epub 2021 Aug 23. PMID: 34437965.
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Ann Vasc Surg. 2021 Aug 23; doi: 10.1016/j.avsg.2021.05.034. Epub 2021 Aug 23.

The natural history of a family with aortic dissection associated with a novel ACTA2 variant.

Annals of vascular surgery

Pascal Delsart, Clémence Vanlerberghe, Francis Juthier, Jonathan Sobocinski, Olivia Domanski, Benjamin Longere, Nadine Hanna, Pauline Arnaud, Luisa Marsili

Affiliations

  1. Institut coeur Poumon, CHU Lille, Lille, France. Electronic address: [email protected].
  2. Clinique de génétique clinique, CHU Lille, Lille, France.
  3. Institut coeur Poumon, CHU Lille, Lille, France; University of Lille, CHU Lille, Lille, France.
  4. Institut coeur Poumon, CHU Lille, Lille, France.
  5. Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris de Paris, Hôpital Bichat, Paris, France.
  6. Clinique de génétique clinique, CHU Lille, Lille, France; University of Lille, CHU Lille, Lille, France.

PMID: 34437965 DOI: 10.1016/j.avsg.2021.05.034

Abstract

Disease-causing heterozygous variants in the ACTA2 gene cause an autosomal dominant heritable thoracic aortic disease (HTAD) with thoracic aortic aneurysm and dissection as main phenotype, and occasional extravascular abnormalities such as livedo reticularis. ACTA2-HTAD accounts for an important part of non-syndromic HTAD, with detection rates varying between 1.5-21% according to different studies. A consensus statement for the screening and management of patients with pathogenic ACTA2 variants has been recently published by the European reference network for rare vascular diseases (VASCERN). However, management of ACTA2 patients is often challenged by extremely variable inter- and intra-familial clinical courses of the disease. Here we report a family harboring a disease-causing ACTA2 variant. The proband and two siblings presented with acute type A aortic dissection and rupture involving nondilated aortic segments before the age of 30. Their mother died at 49 years-old from type B aortic dissection and rupture. Genetic testing revealed the heterozygous novel p.(Pro335Arg) variant in the ACTA2 gene in the proband and in the affected siblings. The clinical history of this family highlights the difficulty of adopting effective prevention strategies in ACTA2 patients.

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