Our Summary

Mulibrey Nanism syndrome is a very rare genetic disorder that affects multiple organs in the body. The most common causes of death in people with this syndrome are heart-related issues. In this research, we discuss a patient with Mulibrey Nanism syndrome who had a surgery to remove part of the sac-like covering of the heart (pericardiectomy) when they were 12 years old. After the surgery, they were able to live another 44 years with manageable and symptom-less heart failure. This case shows how important it is to identify and treat heart-related issues early in patients with Mulibrey Nanism syndrome.

FAQs

  1. What is Mulibrey Nanism syndrome and how does it affect the heart?
  2. How does pericardiectomy help in improving the condition of patients with Mulibrey Nanism syndrome?
  3. What is the significance of early recognition and treatment of constrictive pericarditis in patients with Mulibrey Nanism syndrome?

Doctor’s Tip

A helpful tip a doctor might tell a patient about pericardiectomy is to follow post-operative care instructions carefully, including taking prescribed medications, attending follow-up appointments, and gradually increasing physical activity as advised by your healthcare team. It is also important to maintain a healthy lifestyle, including a balanced diet and regular exercise, to support overall heart health and recovery after surgery.

Suitable For

Patients with Mulibrey nanism syndrome who have constrictive pericarditis and diastolic dysfunction are typically recommended for pericardiectomy. Pericardiectomy may be considered in cases where there is significant impairment of cardiac function or symptoms of congestive heart failure. Early recognition and treatment of constrictive pericarditis in these patients is crucial in order to improve outcomes and quality of life.

Timeline

Before pericardiectomy:

  • Patient with Mulibrey nanism syndrome experiences symptoms such as short stature, muscle weakness, liver dysfunction, and visual impairments.
  • Patient develops constrictive pericarditis, leading to symptoms of diastolic congestive heart failure.
  • Patient undergoes diagnostic tests such as echocardiogram, cardiac MRI, and cardiac catheterization to confirm the diagnosis.
  • Treatment with medications to manage heart failure symptoms may be initiated, but surgery is eventually recommended due to progressive symptoms and worsening heart function.

After pericardiectomy:

  • Patient undergoes pericardiectomy surgery to remove the constricting pericardium, allowing the heart to function more effectively.
  • Patient experiences post-operative recovery and rehabilitation to regain strength and optimize heart function.
  • Patient’s symptoms of heart failure improve, leading to a better quality of life with reduced risk of mortality.
  • Patient continues long-term follow-up with cardiology to monitor heart function and manage any potential complications.
  • Patient is able to live for an extended period of time with relatively stable and asymptomatic diastolic congestive heart failure, highlighting the success of early recognition and treatment of constrictive pericarditis in Mulibrey nanism syndrome patients.

What to Ask Your Doctor

  1. What is the purpose of a pericardiectomy in my case?
  2. What are the potential risks and complications associated with a pericardiectomy?
  3. What is the expected recovery time after a pericardiectomy?
  4. Will I need any additional treatments or medications after the surgery?
  5. How often will I need to follow up with you after the procedure?
  6. Are there any lifestyle changes I should make to help improve my heart health after the surgery?
  7. What symptoms should I watch out for that may indicate a complication after the surgery?
  8. Will I need any additional tests or imaging studies to monitor my heart function after the surgery?
  9. Are there any restrictions on physical activity or work that I should be aware of after the surgery?
  10. What is the long-term outlook for my heart health after undergoing a pericardiectomy?

Reference

Authors: Cordova Sanchez A, Vasigh M, Carhart R. Journal: J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221077816. doi: 10.1177/23247096221077816. PMID: 35257621