Multimodality cardiac imaging in Turner syndrome

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Cardiovascular diseases (CVD) are a major cause of premature death in Turner syndrome, with a threefold increased risk.
• Many CVDs in Turner syndrome remain undiagnosed due to screening non-adherence and complex symptoms.
• Undetected and untreated CVD significantly worsens morbidity and mortality in this population.

Purpose of the Study:

• To review the complex manifestations of cardiovascular disease in Turner syndrome.
• To emphasize the critical role of cardiovascular imaging in screening and surveillance.
• To provide recommendations for the effective use of imaging in managing CVD in Turner syndrome.

Main Methods:

• Literature review focusing on cardiovascular disease in Turner syndrome.
• Analysis of imaging modalities for diagnosis and surveillance.
• Synthesis of current recommendations for clinical practice.

Main Results:

• Cardiovascular disease in Turner syndrome presents with a wide spectrum of severity, from incidental findings to life-threatening conditions.
• Adherence to screening programs is often poor, leading to delayed diagnosis.
• Cardiovascular imaging, both non-invasive and invasive, is essential for comprehensive patient management.

Conclusions:

• Cardiovascular imaging is indispensable for the timely diagnosis, screening, and surveillance of CVD in Turner syndrome.
• Effective management strategies incorporating imaging can mitigate the severe impact of CVD.
• All patients with Turner syndrome require vigilant cardiovascular assessment utilizing advanced imaging techniques.