The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report

Mulibrey (Muscle-Liver-Brain-Eye) Nanism syndrome is an extremely rare genetic disorder with multiorgan involvement. Constrictive pericarditis and diastolic dysfunction are the most common causes of mortality. We present a case of a patient with Mulibrey nanism syndrome who underwent pericardiectomy...

Descripción completa

Detalles Bibliográficos
Autores principales: Cordova Sanchez, Andres, Vasigh, Mostafa, Carhart, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8908392/
https://www.ncbi.nlm.nih.gov/pubmed/35257621
http://dx.doi.org/10.1177/23247096221077816
Descripción
Sumario:Mulibrey (Muscle-Liver-Brain-Eye) Nanism syndrome is an extremely rare genetic disorder with multiorgan involvement. Constrictive pericarditis and diastolic dysfunction are the most common causes of mortality. We present a case of a patient with Mulibrey nanism syndrome who underwent pericardiectomy at 12 years old and was able to live 44 years more with relatively stable and asymptomatic diastolic congestive heart failure (CHF). This case highlights the importance of early recognition and treatment of constrictive pericarditis in these patients.

Ejemplares similares