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Recurrent pericarditis in Myhre syndrome.
Paolo Picco1, Aldo Naselli, Giovanna Pala
1Pediatria II, G. Gaslini Istitute, and University of Genoa, Genoa, Italy. paolopicco@ospedale-gaslini.ge.it
American Journal of Medical Genetics. Part A
|April 24, 2013
Summary
Myhre syndrome, a rare genetic disorder caused by SMAD4 mutations, presents with distinct physical features and developmental delays. This case highlights recurrent pericarditis as a severe, treatable manifestation in a pediatric patient.
Area of Science:
- Genetics
- Rare Diseases
- Pediatric Cardiology
Background:
- Myhre syndrome is a rare genetic disorder.
- It is characterized by distinctive facial features, skeletal anomalies, and developmental issues.
- SMAD4 gene mutations are identified as the cause.
Observation:
- A 7-year-old boy with molecularly confirmed Myhre syndrome was studied.
- The patient presented with life-threatening recurrent pericarditis.
- Systemic inflammatory symptoms were also observed.
Findings:
- The patient's recurrent pericarditis and inflammation were successfully treated.
- Treatment involved corticosteroids and recombinant interleukin-1 receptor antagonist.
- This suggests a potential therapeutic approach for similar cases.
Implications:
- Recurrent pericarditis is a critical, potentially treatable complication of Myhre syndrome.
- Targeted anti-inflammatory therapies may be effective in managing severe manifestations.
- Further research into cardiovascular complications in Myhre syndrome is warranted.
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