Cardiac Filaminopathy: Prevalence, Clinical Features, and Genetic Insights in Saudi Arabia

REVIEW
Yaqob Samir Taleb, Fatimah Alabdullah, Abdulkareem AlGarni, Muneera AlTaweel, Zafar Jan Muhammad Iqbal

 
For citation: Taleb YS, Alabdullah F, AlGarni A, AlTaweel M, Iqbal ZJM. Cardiac Filaminopathy: Prevalence, Clinical Features, and Genetic Insights in Saudi Arabia. International Journal of Biomedicine. 2025;15(2):239-246. doi:10.21103/Article15(2)_RA1
 
Originally published June 5, 2025
 

Abstract: 

Cardiac filaminopathy, resulting from mutations in the FLNC gene that encodes filamin C, is increasingly recognized as a significant cause of inherited cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. This review synthesizes current knowledge about the genetic basis, clinical manifestations, and prevalence of cardiac filaminopathy, with a specific focus on Saudi Arabia. The unique genetic landscape of the Saudi population, characterized by a high prevalence of consanguinity, suggests a potentially elevated burden of cardiac filaminopathy condition, although data remain limited. We highlight the need for more comprehensive genetic screening and research to understand better and manage cardiac filaminopathy in Saudi Arabia.Cardiac filaminopathy, resulting from mutations in the FLNC gene that encodes filamin C, is increasingly recognized as a significant cause of inherited cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. This review synthesizes current knowledge about the genetic basis, clinical manifestations, and prevalence of cardiac filaminopathy, with a specific focus on Saudi Arabia. The unique genetic landscape of the Saudi population, characterized by a high prevalence of consanguinity, suggests a potentially elevated burden of cardiac filaminopathy condition, although data remain limited. We highlight the need for more comprehensive genetic screening and research to understand better and manage cardiac filaminopathy in Saudi Arabia.

Keywords: 
cardiac filaminopathy • cardiomyopathy • filamin-C • Saudi Arabia • clinical features
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Received March 23, 2025.
Accepted April 29, 2025.
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