American journal of medical genetics. Part C, Seminars in medical genetics · 2025
Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team.
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de Groote Katya, Patel Sheetal R, Mortensen Kristian Havmand, Witvrouwen Isabel, Duijnhouwer Anthonie, Brown Nicole M, Grewal Jasmine, Chatfield Kathryn C, Dorfman Aaron T, Prakash Siddharth K
Аннотация
Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left-sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena cava (LSVC), and partial anomalous pulmonary venous return (PAPVR), are also relatively frequent. Standardized mortality is increased threefold in individuals with TS compared to the general population, with cardiovascular complications, including aortic dissection, being the leading cause of death. The publication of the 2024 Clinical Practice Guidelines for TS marks an important opportunity to remind clinicians about the burden of congenital heart and vascular lesions in TS and the need for lifelong cardiovascular surveillance. In this expert panel statement, we will focus on the rationale for clinical management of CHD in TS, emphasizing TS-specific features of CHD that influence clinical decision making about therapeutic options and follow-up care.