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.

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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
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article

A case report of non-lamin A/C dilated cardiomyopathy presenting in a patient with Najjar–Malouf syndrome

Gian Flury, Flurina Arquint
1 citations
European Heart Journal - Case Reports
Cardiac Structural Anomalies and Repair
2.01
article

A case report of non-lamin A/C dilated cardiomyopathy presenting in a patient with Najjar–Malouf syndrome

Gian Flury, Flurina Arquint
article en
1 citations

Abstract

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.

European Heart Journal - Case ReportsVol. 9(4)
Kantonsspital Graubünden (CH)
Openalex Percentile: Top 18%
Cardiac Structural Anomalies and Repair
2.01
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