Definition of the pathology
Aortic bicuspidy is a congenital malformation of the aortic valve in which the valve has two leaflets instead of the normal three leaflets. This anomaly can lead to dysfunctions of the aortic valve (stenosis or regurgitation) and a dilation of the thoracic aorta, increasing the risks of aneurysm formation and aortic dissection.
Epidemiology
Aortic bicuspidy is the most common congenital heart malformation, affecting about 1 to 2% of the general population. It is more common in men than in women, with a male-to-female ratio of about 3:1. The prevalence of aortic bicuspidy is higher in patients with other congenital malformations, including aortic valve malformations and ventricular septal defects.
Causes of aortic bicuspidy
Aortic bicuspidy is a congenital malformation whose exact causes are not yet well understood. Genetic factors likely play a role, as this condition is often observed in certain families. It is also associated with other genetic syndromes, such as Turner syndrome.
Risk factors
- Male gender
- Family history of aortic bicuspidy
- Turner syndrome
- High blood pressure
- Dilation of the ascending aorta
Symptoms of aortic bicuspidy
Initially, this pathology can be asymptomatic. Patients can go years without showing apparent symptoms. When symptoms appear, they are generally related to the dysfunctional aortic valve or aortic dilation. Aortic stenosis can cause fatigue, dyspnea (difficulty breathing), palpitations, and chest pain. Aortic regurgitation can also lead to fatigue, dyspnea, and palpitations, as well as congestive heart failure. Aortic dilation can be asymptomatic. However, in severe cases, it can lead to aortic dissection or rupture. These complications cause severe chest pain and hypotension.
If you have any doubts, consult a healthcare professional to evaluate your situation and ensure regular monitoring.
Radiological imaging
Ultrasound is the first-line choice for diagnosing aortic bicuspidy and assessing valve function and the dimensions of the thoracic aorta.
Cardiac magnetic resonance imaging (MRI) or CT scan can be used for a more comprehensive evaluation of the thoracic aorta if TTE is limited or in case of significant aortic dilation.
Prevention of aortic bicuspidy
Regular monitoring of valve function is crucial. The same goes for the size of the aorta in patients with aortic bicuspidy. This allows for early detection of any aortic valve dysfunction. This monitoring also helps to identify any aortic dilation. Adequately treating high blood pressure, as it can contribute to the worsening of valve dysfunction and aortic dilation. Limiting intensive physical activities or competitive sports in patients with significant aortic dilation or important valve dysfunction, due to the increased risk of aortic dissection.
Conclusion
Aortic bicuspidy is a common congenital malformation that can lead to complications such as aortic valve dysfunctions and aortic dilations. Regular follow-up, appropriate treatment of hypertension, and evaluation before participating in intensive physical activities are essential to prevent complications and improve outcomes for patients with this medical condition.
Source: UpToDate