Our Summary

This research paper is about a rare genetic disease called Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP), which is caused by a mutation in a particular gene. The researchers had trouble diagnosing this disease in two sisters. The older sister had fluid around the heart and restrictive inflammation of the heart lining, and she was treated for suspected tuberculosis. Two years later, she developed swelling and movement restrictions in both of her knees. At the same time, her younger sister also experienced swelling in both knees. This led the researchers to suspect a genetic disease. After sequencing their entire genome, they found a mutation in the PRG4 gene, which confirmed the diagnosis of CACP syndrome.

FAQs

  1. What is Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP)?
  2. How is CACP syndrome diagnosed?
  3. What is pericardiectomy and when is it performed?

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 activity levels as advised by your healthcare team. It is also important to notify your doctor if you experience any new or worsening symptoms, such as chest pain, shortness of breath, or swelling.

Suitable For

Patients with pericardial effusion, constrictive pericarditis, and suspected genetic diseases such as Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) may be recommended for pericardiectomy. Other patients who may benefit from pericardiectomy include those with recurrent pericarditis, chronic constrictive pericarditis, and certain cases of pericardial tumors or infections. Ultimately, the decision to recommend pericardiectomy will depend on the specific circumstances and underlying conditions of the individual patient.

Timeline

Before pericardiectomy:

  • Patient experiences symptoms such as chest pain, shortness of breath, and fatigue due to pericardial effusion and constrictive pericarditis.
  • Diagnostic tests such as echocardiogram and MRI are performed to confirm the diagnosis.
  • Empirical treatment for suspected tuberculosis may be initiated if the cause of pericarditis is unclear.

After pericardiectomy:

  • Patient undergoes pericardiectomy surgery to remove the constricting pericardium.
  • Recovery period post-surgery involves monitoring for complications and managing pain.
  • Patient may experience improvement in symptoms such as chest pain and shortness of breath.
  • Development of new symptoms such as bilateral knee swelling and restriction of movement may arise, leading to further investigations.
  • Genetic testing such as whole-genome sequencing is performed to identify underlying genetic mutations, in this case, a homozygous PRG4 mutation indicative of CACP syndrome.
  • Patient may receive appropriate management and follow-up care for the genetic disorder.

What to Ask Your Doctor

  1. What is a pericardiectomy and why is it necessary for my condition?
  2. What are the potential risks and complications associated with pericardiectomy?
  3. How long is the recovery period after pericardiectomy surgery?
  4. Are there any alternative treatments to pericardiectomy for my condition?
  5. Will I need ongoing treatment or monitoring after the surgery?
  6. How likely is it that my condition will recur after pericardiectomy?
  7. Are there any lifestyle changes or restrictions I should follow after pericardiectomy?
  8. Are there any support groups or resources available for patients with pericardiectomy?
  9. Will the surgery affect my ability to perform certain activities or exercises?
  10. How often should I follow up with you after the surgery?

Reference

Authors: Sathiyaseelan SL, Krishna K, Agarwal D, Oswal JS. Journal: BMJ Case Rep. 2024 Jul 1;17(7):e260146. doi: 10.1136/bcr-2024-260146. PMID: 38955384