Ahmet Yiğit Temizhan, Mehmet Numan Çolakoğlu, Meryem Kara, Etga Köprücü, Ahmet Korkmaz, Serkan Topaloğlu, Feride Pınar Altay, Ekin Yiğit Köroğlu, İnci Elif Erbahçeci Timur, Nagihan Uğurlu, Ahmet Temizhan
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...
September 2024: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır