Heart and Turner syndrome

Area of Science:

• Genetics
• Cardiology
• Endocrinology

Background:

• Turner syndrome (TS) affects 50 in 100,000 girls, characterized by X chromosome loss.
• Cardiovascular malformations, including bicuspid aortic valves and aortic coarctation, are prevalent in TS patients.
• High morbidity and mortality in TS are linked to hypertension and aortic dilatation, increasing dissection risk.

Purpose of the Study:

• To review recent data on aortic diameter progression in TS.
• To present current molecular insights into the cardiovascular system in TS.
• To highlight the importance of lifelong cardiovascular monitoring and patient education in TS management.

Main Methods:

• Review of recent scientific literature and European guidelines (2017).
• Analysis of data concerning aortic diameter progression.
• Exploration of molecular mechanisms affecting the cardiovascular system in TS.

Main Results:

• Congenital cardiovascular malformations affect 20-30% (bicuspid aortic valves) and 7-18% (aortic coarctation) of TS patients.
• Aortic dilatation affects 40% of TS patients, leading to increased risk of aortic dissection.
• European guidelines recommend lifelong cardiovascular monitoring using MRI and/or echography.

Conclusions:

• Lifelong cardiovascular follow-up is essential for patients with Turner syndrome.
• Patient and family education is a critical component of managing TS and its cardiovascular complications.
• Understanding aortic diameter progression and molecular factors is key to improving TS patient outcomes.