Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning

Abstract

Aortopathy encompasses a wide spectrum of genetic and heritable conditions that predispose individuals to aortic dissections and aneurysms. These include bicuspid aortic valve-associated aortopathy, nonsyndromic heritable thoracic aortic disease (HTAD), and syndromic HTAD. Syndromic heritable thoracic diseases include Marfan syndrome, Turner syndrome, vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. In contrast, nonsyndromic HTAD is due to pathogenic variants in genes such as acetyl coenzyme a cholesterol acyltransferase-2, forkhead-related transcription factor 8, lysine oxidase, protein kinase cGMP-dependent 1, and myosin light chain kinase. Pregnancy-related aortic events are rare, but they account for a disproportionate share of maternal cardiovascular deaths. Profound hormonal and hemodynamic changes-including increased blood volume, cardiac output, and arterial wall stress-amplify underlying genetic risks. Acute dissection, while infrequent, remains one of the leading causes of maternal mortality, and aneurysms pose additional challenges given their silent progression until rupture. Guideline-directed management strategies-including preconception counseling, imaging surveillance, pharmacologic blood pressure control, and delivery planning-are essential for optimizing maternal and fetal outcomes. This review summarizes current evidence on the epidemiology, risk stratification, and management of aortopathy in pregnancy, emphasizing the importance of early recognition and multidisciplinary care.

Keywords: aortic aneurysm; aortic dissection; aortopathy; cardiovascular disease in pregnancy; heritable thoracic aortic disease; pregnancy complications.