Novel SMAD3 p.Arg386Thr genetic variant co‐segregating with thoracic aortic aneurysm and dissection

Background Pathogenic variants in the SMAD3 gene affecting the TGF‐β/SMAD3 signaling pathway with aortic vessel involvement cause Loeys‐Dietz syndrome 3, also known as aneurysms–osteoarthritis syndrome. Methods Description of clinical history of a family in Sweden using clinical data, DNA sequencing, bioinformatics, and pedigree analysis. Results We report a novel SMAD3 variant, initially classified as a genetic variant of uncertain clinical...