From the Guidelines
The most common cardiac malformation in Turner's syndrome (TS) is bicuspid aortic valve (BAV), which affects approximately 15%–30% of patients with TS 1.
Key Findings
- BAV is a significant risk factor for aortic dissection, and patients with TS are at increased risk of aortic dissection, with 85% occurring in the ascending and 15% in the descending aorta 1.
- Other common cardiac malformations in TS include aortic coarctation (7%–18%) and ascending aortic dilation (33%) 1.
- The American Heart Association and American College of Cardiology recommend cardiac imaging, including transthoracic echocardiography (TTE) and cardiac MRI, to evaluate for congenital heart and aortic defects in patients with TS 1.
- Indexing the aortic diameter to body size, such as calculating the aortic size index (ASI), is recommended to monitor the aorta in patients with TS, as they are at risk of aortic dissection at relatively small aortic diameters due to their short stature 1.
From the Research
Cardiac Malformations in Turner's Syndrome
The most common cardiac malformations in Turner's syndrome (TS) include:
- Bicuspid aortic valve (BAV) 2, 3, 4, 5, 6
- Coarctation of the aorta (CoA) 2, 3, 4, 5, 6
- Aortic dilatation (AD) 3, 4, 5, 6
- Partial anomalous pulmonary venous return (PAPVR) 3, 4, 6
Prevalence of Cardiac Malformations
The prevalence of cardiac malformations in TS patients is estimated to be around 30% 3 to 56% 2, with BAV and CoA being the most common left heart obstructions 5.
Association with Karyotypes
Some studies suggest that cardiovascular abnormalities, such as BAV, CoA, and AD, are more common in patients with the 45,X karyotype 6.
Screening and Monitoring
Regular cardiology follow-up and screening with echocardiography or cardiac MRI are recommended for TS patients, particularly those with treated heart disease or at risk of cardiovascular complications 2, 3, 4, 5, 6.