Sex differences in bicuspid aortic valve disease

Area of Science:

• Cardiology
• Genetics
• Congenital Heart Disease

Background:

• Bicuspid aortic valve (BAV) is the most common congenital heart defect, occurring 3-4 times more frequently in men than women.
• Genetic factors, including X chromosome gene dosage, and multifactorial inheritance contribute to BAV's variable penetrance and phenotypes.
• Phenotypic variations in BAV, such as raphe fusion, may influence the type and incidence of valve and vascular complications.

Purpose of the Study:

• To review and summarize sex-based differences in BAV phenotypes.
• To analyze sex-specific patterns of valvular and vascular complications associated with BAV.
• To elucidate how these differences contribute to distinct clinical outcomes in men and women with BAV.

Main Methods:

• Literature review of studies comparing BAV phenotypes and complications between sexes.
• Analysis of reported incidences of aortic stenosis, regurgitation, endocarditis, aneurysm, and dissection in male and female BAV patients.
• Synthesis of data on aortic root and ascending aorta dimensions in relation to sex.

Main Results:

• While BAV is more common in men, phenotypic distributions between sexes are inconsistently reported.
• Women with BAV more often develop aortic stenosis, whereas men are more prone to aortic regurgitation and endocarditis.
• Men exhibit larger aortic dimensions and higher rates of aneurysm and dissection; women may have a worse prognosis compared to the general population despite similar survival rates to men with BAV.

Conclusions:

• Significant sex-based differences exist in BAV phenotypes and associated complications.
• These disparities in valvular and vascular issues contribute to varied clinical outcomes for men and women with BAV.
• Understanding these sex-specific differences is crucial for effective BAV patient evaluation and management.