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Mulibrey Nanism: A Case with Heart Failure.
Ahmet Yiğit Temizhan1, Mehmet Numan Çolakoğlu2, Meryem Kara1
1Department of Cardiology, Ankara Bilkent City Hospital, Ankara, Türkiye.
Summary
Mulibrey Nanism, a rare genetic disorder, can cause heart failure and constrictive pericarditis. Early diagnosis and multidisciplinary care are crucial for managing its complex multisystem pathologies.
Area of Science:
- Genetics
- Cardiology
- Rare Diseases
Background:
- Mulibrey Nanism is a rare genetic disorder with diverse systemic manifestations.
- Cardiac involvement, including constrictive pericarditis, is a known feature.
Observation:
- A 26-year-old male with Mulibrey Nanism presented with heart failure symptoms.
- He had a history of partial pericardiectomy for constrictive pericarditis at age 4.
- Dysmorphic features included short stature, macrocephaly, and hypertelorism.
Findings:
- Genetic testing revealed a homozygous likely pathogenic mutation in the TRIM37 gene.
- The patient's heart failure was attributed to Mulibrey Nanism.
Implications:
- This case highlights the importance of considering Mulibrey Nanism in patients with early-onset constrictive pericarditis and dysmorphic features.
- A multidisciplinary approach is essential for managing the complex multisystem pathologies of Mulibrey Nanism.
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