Mulibrey Nanism: A Case with Heart Failure

• Published in: Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir Vol. 52; no. 6; pp. 464 - 467
• Main Authors: Temizhan, Ahmet Yiğit, Çolakoğlu, Mehmet Numan, Kara, Meryem, Köprücü, Etga, Korkmaz, Ahmet, Topaloğlu, Serkan, Altay, Feride Pınar, Köroğlu, Ekin Yiğit, Erbahçeci Timur, İnci Elif, Uğurlu, Nagihan, Temizhan, Ahmet
• Format: Journal Article
• Language: English
• Published: Turkey 01.09.2024
• Subjects: Adult; Diagnosis, Differential; Heart Failure; Humans; Male; Mulibrey Nanism - diagnosis; Tripartite Motif Proteins; Ubiquitin-Protein Ligases - genetics
• ISSN: 1016-5169; 1308-4488; 1308-4488
• DOI: 10.5543/tkda.2023.95443

Mulibrey Nanism is a rare genetic disorder characterized by a variety of systemic manifestations, including cardiac involvement. We report the case of a 26-year-old male who underwent partial pericardiectomy for constrictive pericarditis at age 4 and presented to our cardiology clinic with heart failure symptoms. Examination revealed dysmorphic features characteristic of Mulibrey Nanism such as short stature, macrocephaly, and hypertelorism. Genetic testing identified a homozygous likely pathogenic mutation in the TRIM37 gene. The patient's heart failure was managed through a multidisciplinary approach, involving consultations with various specialties to address and diagnose the syndrome's complex multisystem pathologies. This case underscores the importance of including Mulibrey Nanism in the differential diagnosis of patients with a history of constrictive pericarditis at an early age and dysmorphic features, as well as the necessity of a multidisciplinary approach to manage the diverse manifestations of this rare genetic disorder.