Our Summary

This research paper shares the story of a 38-year-old woman who had a genetic variation that caused a part of her heart (the aortic root) to expand abnormally. This particular genetic variation affects a protein called Filamin A. To fix the problem, the doctors performed a special kind of heart surgery, known as the David procedure. However, they had to modify the procedure because this genetic variation made her tissue more fragile than usual. This case shows how having detailed genetic information about a patient can help doctors decide when to do surgery and how to plan it.

FAQs

  1. What is the FLNA variant and how does it affect the aortic root?
  2. How does the David procedure work in valve-sparing aortic root replacement?
  3. How does patient-specific genetic information influence the timing of surgery and operative course planning?

Doctor’s Tip

One helpful tip a doctor might tell a patient about valve replacement is to follow a healthy lifestyle post-surgery to promote proper healing and long-term success of the replacement valve. This may include maintaining a balanced diet, staying physically active, avoiding smoking, and attending regular follow-up appointments with your healthcare provider.

Suitable For

Patients who are typically recommended valve replacement include those with severe aortic stenosis, aortic regurgitation, mitral valve disease, or other conditions that affect the function of the heart valves. In some cases, patients may have a genetic condition that predisposes them to valve dysfunction, as in the case described above. Additionally, patients with a history of infective endocarditis, congenital heart defects, or previous valve replacement surgery may also be candidates for valve replacement. Ultimately, the decision to recommend valve replacement is made on a case-by-case basis by a team of healthcare providers, taking into account the patient’s overall health and individual circumstances.

Timeline

Before valve replacement:

  • Patient is diagnosed with a genetic variant affecting the FLNA gene, leading to aortic root dilation
  • Patient undergoes genetic testing to confirm the variant and assess the risk of complications
  • Cardiologist monitors the patient’s heart function and aortic root size over time
  • Decision is made to proceed with valve-sparing aortic root replacement surgery due to the risk of aortic dissection

After valve replacement:

  • Patient undergoes valve-sparing aortic root replacement surgery using the David procedure with modifications for tissue fragility
  • Patient is closely monitored in the intensive care unit post-surgery for any complications
  • Patient undergoes rehabilitation and physical therapy to regain strength and mobility
  • Cardiologist continues to monitor the patient’s heart function and aortic root size post-surgery
  • Patient may need to take medication to prevent blood clots or manage blood pressure
  • Patient may need regular follow-up appointments with their cardiologist to ensure the success of the surgery and monitor for any long-term complications.

What to Ask Your Doctor

  1. What is the specific reason for needing a valve replacement in my case?
  2. What are the risks and benefits of valve-sparing aortic root replacement versus other treatment options?
  3. How will my genetic condition (such as anFLNAvariant) impact the surgery and recovery process?
  4. What modifications will be made to the standard procedure to accommodate my genetic condition?
  5. What is the expected outcome of the surgery, and what is the long-term prognosis for someone with my genetic condition?
  6. What post-operative care and follow-up will be necessary after the valve replacement surgery?
  7. Are there any lifestyle changes or restrictions I should be aware of after the surgery?
  8. What is the experience of the surgical team in performing valve-sparing aortic root replacement on patients with genetic conditions like mine?
  9. Are there any clinical trials or research studies that I may be eligible for as a patient with this genetic condition undergoing valve replacement surgery?
  10. Are there any support groups or resources available for patients with similar genetic conditions who have undergone valve replacement surgery?

Reference

Authors: Lobbestael AJ, Bupp CP, Haw MP. Journal: World J Pediatr Congenit Heart Surg. 2022 Nov;13(6):805-807. doi: 10.1177/21501351221099272. Epub 2022 May 18. PMID: 35585709