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Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay

28 Feb 2023

Abstract excerpt

In human, pathogenic variants in smad3 are one cause of familial aortopathy. We describe a novel SMAD3 variant of unknown significance (VUS), V244F, in a patient who presented with aortic root dilation, right coronary artery ectasia, abdominal aortic aneurysm, right vertebral artery atresia, and cavernoma. Determination of variant pathogenicity impacted multiple aspects of the patient’s care, including the most...

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PMID: 36926042
DOI: 10.3389/fcvm.2023.1103784

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