What are the cardiac features of Turner syndrome (TS)?

From the Guidelines

Turner syndrome is associated with several cardiac abnormalities that significantly impact morbidity, mortality, and quality of life, necessitating regular cardiovascular monitoring throughout life. The most common cardiac features include congenital heart defects, particularly left-sided obstructive lesions. Bicuspid aortic valve is present in about 30% of patients, making it the most frequent cardiac anomaly, as noted in guidelines from 1 and 1. Coarctation of the aorta occurs in approximately 20% of cases, while aortic root dilation affects 15-30% of patients and can progress over time, increasing the risk of aortic dissection. Other cardiac abnormalities include partial anomalous pulmonary venous return, elongation of the transverse aortic arch, and septal defects. Hypertension is also common, affecting up to 50% of Turner syndrome patients, and can develop even in childhood.

Key Cardiac Features and Recommendations

• Bicuspid aortic valve: present in about 30% of patients
• Coarctation of the aorta: occurs in approximately 20% of cases
• Aortic root dilation: affects 15-30% of patients and increases the risk of aortic dissection
• Hypertension: common, affecting up to 50% of Turner syndrome patients
• Regular cardiovascular monitoring is crucial, including baseline cardiac evaluation at diagnosis with echocardiography and MRI, followed by periodic reassessment based on individual risk factors, as recommended by 1 and 1.

Surveillance and Management

The frequency of imaging should be informed by aortic diameter, aortic growth rate, severity of hypertension, and aortic valve function, as outlined in 1. For patients with Turner syndrome who are ≥15 years old and have a stable aortic size index (ASI) of ≤2.3 cm/m2, surveillance imaging with transthoracic echocardiography (TTE) or magnetic resonance imaging (MRI) is performed every 2 to 3 years. In patients with Turner syndrome who are >15 years old with an ASI >2.3 cm/m2, at least annual surveillance imaging of the aorta is appropriate. Prophylactic replacement of the aortic root or ascending aorta in adults with Turner syndrome is reasonable when the aortic diameter is 2.5 cm/m2 or greater, as suggested by 1 and 1.

Conclusion is not allowed, so the answer just ends here with the last relevant information and in-text citations 1.

From the Research

Cardiac Features of Turner's Syndrome

The cardiac features of Turner's syndrome are complex and varied, with a high prevalence of cardiovascular malformations and complications. Some of the key cardiac features include:

• Bicuspid aortic valve (BAV) and coarctation of the aorta, which are the most common structural heart lesions in Turner's syndrome 2, 3, 4
• 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 4
• Elongation of the transverse aortic arch, which is associated with coarctation of the aorta and BAV 5
• Aortic dilatation, which is most common at the aortic sinus 5
• Hypertension, mitral valve prolapse, and conduction defects are also common functional cardiac abnormalities 2

Prevalence of Cardiac Abnormalities

The prevalence of cardiac abnormalities in Turner's syndrome is high, with:

• 56% of patients having cardiovascular abnormalities, including 71% with structural abnormalities and 29% with functional abnormalities 2
• 31.4% of patients having elongation of the transverse aortic arch, 15.7% having coarctation of the aorta, and 39.2% having BAV 5
• Aortic dissection is a rare but serious complication, with a reported incidence of 42 cases in the literature 2

Management and Surveillance

The management and surveillance of cardiac abnormalities in Turner's syndrome are critical to preventing complications and improving outcomes. Recommendations include:

• Screening echocardiogram at diagnosis, with referral to a cardiologist and lifelong monitoring for hypertension 2
• Periodic cardiac MRI screening to evaluate aortic dilatation and associated abnormalities 5
• Individualized protocols for following patients with structural malformations, with consideration of factors such as age, karyotype, and blood pressure 2, 3
• Cardiovascular surgery is frequently required, with a reported early mortality rate of 8% and good long-term survival for those who survive to dismissal 6