A case report of non-lamin A/C dilated cardiomyopathy presenting in a patient with Najjar–Malouf syndrome
The triad of intellectual disability, hypergonadotropic hypogonadism, and cardiomyopathy enabled the diagnosis of Najjar-Malouf syndrome, also known as cardiogenital syndrome. This case underscores the diagnostic and therapeutic challenges of Najjar-Malouf syndrome, emphasizing the significance of thorough evaluation and genetic testing, particularly considering the association with LMNA mutations. Further research is needed to improve understanding and management strategies for this rare syndrome.
Authors
- Gian Flury (ORCID: https://orcid.org/0000-0002-3842-180X)
- Flurina Arquint (ORCID: https://orcid.org/0009-0007-7306-731X)
Institutions
- Kantonsspital Graubünden (CH)
Publication Details
- Journal
- European Heart Journal - Case Reports
- Published
- 2025-02-26
- DOI
- https://doi.org/10.1093/ehjcr/ytaf110
- Citations
- 1
- Primary Topic
- Cardiac Structural Anomalies and Repair
- Type
- article
- Field-Weighted Citation Impact
- 2.01