Case highlights aortic dissection linked to ACTA2 mutation, suggesting importance of genetic analysis.
Alterations in smooth muscle contractility can be produced by mutations in the ACTA2 gene. This autosomal dominant inheritance disease can be manifested as a thoracic aortic dissection. Most of the time, early diagnosis and treatment are required due to the high mortality of this clinical entity. In some cases, genetic analysis plays a decisive role. We expose the clinical case of a 45-year-old woman with a mutation in a variant of the ACTA2 gene, who presents a spontaneous aortic dissection associated with a transient ischemic attack.
No takes yet. Share an insight, caveat, or question.
Guerrero et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: