DOI: 10.36347/sjams.2019.v07i05.048

Pages: 1933-1937

Dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM. We report a rare new pathogenic missense mutation in CFAP 58 in patient with cardiomyopathy disease not previously associated with DCM, developmental delay and dysmorphic features. Our patient had a rapidly progressing course, despite maximal medical management. To the best of our knowledge, it is the first report of mutation in CFAP 58 in Saudi patients associated with dilated cardiomyopathy and developmental delay.