Our Summary

This research paper is about a 38-year-old woman who had a specific genetic variant (FLNA) that caused her aorta (the main blood vessel in the heart) to enlarge. This enlargement required a surgical procedure known as the David procedure to repair it. The surgeons had to modify the procedure because the woman’s tissue was more fragile due to her genetic condition. This case shows how important it is to know a patient’s specific genetic information when planning and timing a surgery.

FAQs

  1. What is the FLNA variant and how does it affect the aortic root?
  2. What is the David procedure used for aortic root repair?
  3. How can 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 aortic valve replacement is to carefully follow post-operative care instructions, including taking medications as prescribed, attending follow-up appointments, and engaging in cardiac rehabilitation to aid in recovery and improve overall heart health. Additionally, patients should be aware of any potential signs of complications such as infection, bleeding, or abnormal heart rhythms, and seek medical attention promptly if they experience any concerning symptoms.

Suitable For

Patients who are typically recommended for aortic valve replacement include those with severe aortic stenosis or regurgitation, congenital heart defects affecting the aortic valve, aortic root dilation or aneurysm, or a history of infective endocarditis. Additionally, patients with certain genetic conditions such as Marfan syndrome or bicuspid aortic valve may also be candidates for aortic valve replacement. Ultimately, the decision for aortic valve replacement is made on a case-by-case basis by a multidisciplinary team of healthcare providers.

Timeline

Before Aortic Valve Replacement:

  • Patient likely experiences symptoms such as chest pain, shortness of breath, fatigue, and dizziness due to aortic valve disease.
  • Patient undergoes diagnostic tests such as echocardiogram, cardiac catheterization, and cardiac MRI to assess the severity of the condition.
  • Patient consults with a cardiac surgeon to discuss treatment options, including aortic valve replacement.
  • Patient undergoes pre-operative evaluations and medical clearance for surgery.

After Aortic Valve Replacement:

  • Patient undergoes aortic valve replacement surgery, which may involve either a traditional open-heart surgery or a minimally invasive procedure.
  • Patient is monitored in the intensive care unit post-surgery for a few days to ensure proper recovery.
  • Patient undergoes cardiac rehabilitation to regain strength and endurance.
  • Patient follows up with their cardiac surgeon for regular check-ups and monitoring of the replaced valve.
  • Patient may need to take medications such as blood thinners to prevent blood clots and antibiotics to prevent infection.
  • Patient is advised to maintain a healthy lifestyle, including regular exercise and a heart-healthy diet, to prevent future complications.

What to Ask Your Doctor

  1. What is the reason for recommending aortic valve replacement?

  2. What are the potential risks and benefits of the valve-sparing aortic root replacement procedure?

  3. How will my FLNA variant affect the surgery and recovery process?

  4. What alternative treatment options are available for my condition?

  5. What are the long-term outcomes and prognosis following the valve-sparing aortic root replacement surgery?

  6. How will my genetic condition impact future heart health and potential complications?

  7. What steps can I take to reduce the risk of complications or recurrence after the surgery?

  8. Will I need any follow-up appointments or additional monitoring after the surgery?

  9. Are there any lifestyle changes or medications I should consider post-surgery?

  10. Are there any support groups or resources available for individuals with similar genetic conditions undergoing aortic valve replacement?

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