Mulibrey Nanism: A Case With Heart Failure

Mulibrey Nanism is a rare genetic disorder that can present with a variety of systemic manifestations, including cardiac involvement. We present a 26-year-old male with a history of partial pericardiectomy for constrictive pericarditis at the age of 4, who presented to our cardiology clinic with symptoms of heart failure. Upon examination, he exhibited dysmorphic features consistent with Mulibrey Nanism, including short stature, macrocephaly, and hypertelorism. He had no prior diagnosis of the disease; he was thought to have some form of achondroplasia by his prior physicians. Genetic testing revealed a homozygous likely pathogenic mutation in the TRIM37 gene. The patient’s heart failure was managed with a multidisciplinary approach, including consultations to many other specialties to treat and diagnose the syndromes many multisystemic pathologies. Ultimately, the patient improved symptomatically and was discharged. This case highlights the importance of considering Mulibrey Nanism in the differential diagnosis of patients with history of constrictive pericarditis at early age and dysmorphic features, as well as the need for a multidisciplinary approach in managing the multiple manifestations of this rare genetic disorder.