ArticleEuropean journal of case reports in internal medicine2026
First-Trimester Aortic Root Replacement in a Pregnant Woman with Previously Undiagnosed Marfan Syndrome.
Article in European journal of case reports in internal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Aortopathy encompasses a spectrum of aortic aneurysms and dissections and represents a major cause of cardiovascular morbidity during pregnancy, particularly in women with heritable connective tissue disorders such as Marfan syndrome. Evidence guiding the management of severe aortopathy diagnosed in early pregnancy remains limited. We report the case of a pregnant woman with previously undiagnosed Marfan syndrome who presented at 10 weeks' gestation with decompensated heart failure due to severe aortic regurgitation and a massive aortic root aneurysm. Transthoracic echocardiography revealed marked dilatation of the aortic root and ascending aorta, accompanied by left ventricular dilatation and systolic dysfunction. Following multidisciplinary evaluation, urgent surgical intervention was deemed necessary because of prohibitive maternal risk. The patient successfully underwent aortic root and valve replacement during the first trimester. Postoperatively, cardiac function improved, and the pregnancy was continued without major cardiovascular complications, ultimately resulting in the delivery of a healthy neonate. This case highlights the complexity of managing severe Marfan-associated aortopathy diagnosed during early pregnancy and demonstrates that life-saving aortic surgery may be considered in carefully selected patients when maternal risk is extreme, emphasizing the importance of individualized, multidisciplinary decision-making. LEARNING POINTS: Pregnancy may unmask previously undiagnosed Marfan syndrome and carries a high risk of life-threatening aortic complications.Current guidelines recommend pre-pregnancy surgery when the aortic root diameter reaches ≥4.5 cm; however, management of severe aortopathy detected during pregnancy remains challenging and individualized.In carefully selected high-risk patients, severe aortic root aneurysm complicated by heart failure may necessitate life-saving aortic surgery even during the first trimester, guided by multidisciplinary decision-making and European Society of Cardiology recommendations.
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