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While it is not intended as professional medical advice, diagnosis or treatment, reviewing the information about our program will allow you to understand more about family screenings.  

Bicuspid Aortic Valve 

Also known as BAV. This condition occurs when an aortic valve, the access point to the main pumping chamber of the heart, has two leaflets (heart valves) instead of the normal three.

Dilated Thoracic Aorta 

The aorta is the body’s largest artery. Due to age and certain conditions, thoracic aortic dilation can occur. The dilation negatively impacts the elastic quality of the aorta. 

Should Children Get Screened?

Because BAV can be inherited, experts recommend that first-degree relatives (parents, siblings and children) of patients with a bicuspid aortic valve (BAV), early onset of thoracic aortic disease with minimal risk factors and/or a generic form of thoracic aortic aneurysm and dissection should be evaluated for those conditions.

Fast Facts About BAV:

  • BAV is the most common congenital heart defect (CHD).
  • As much as 2% of the general population has BAV.
  • BAV is often diagnosed in otherwise healthy patients who don’t have any symptoms.
  • The condition is associated with serious long-term health risks. For example, aortic complications occur in approximately 35% of individuals, many of whom require life-saving surgical treatment.
  • Significant complications occur in more than one-third of BAV cases.
  • BAV often with other CHDs. For example, more than 50% of people with a heart defect called coarctation of the aorta also have BAV.
  • As many as 75% or more of patients with BAV will develop a thoracic aortic aneurysm (TAA), which is a weakened area in the aorta.
  • Studies have shown that 30% of young patients with normally functioning or minimally dysfunctional BAV developed TAA within 10 years.
  • In relatives of patients with BAV, ascending aortic dilation was diagnosed in 35% of individuals with or without BAV.

What Happens Next?

  • Screening of first-degree relatives of patients with BAV is recommended.
  • Long-term follow-up and specific exercise restrictions may be recommended.
  • Care is best managed through a pediatric cardiologist with the support of the primary care physician.
  • Formal genetic counseling may be recommended, with more detailed gene testing performed under their supervision of or in consultation with a pediatric geneticist.

Please call our office if you have any questions. We look forward to caring for pediatric patients during their health journey.

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