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Resistant to Ablation, Responsive to Hydroquinidine: Precision Medicine Guides Recovery in MEPPC Syndrome
Jonathan L Ciofani1,2,3, Hariharan Raju4,5, Malcolm Anastasius2,4
1Sydney Medical School The University of Sydney Sydney Australia.
Abstract:
We report a case of MEPPC syndrome presenting with severe dilated cardiomyopathy due to a pathogenic SCN5A p.Arg814Trp variant. Genetic diagnosis enabled precision pharmacotherapy with hydroquinidine, which suppressed multifocal Purkinje-origin ectopy resistant to catheter ablation and led to marked improvement in left ventricular function.
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