Oshtoran Syndrome (H63D Syndrome Type-3) is a rare, progressive multi-system disorder characterized by severe autonomic dysregulation, mitochondrial dysfunction, and non-transferrin-bound iron (NTBI) accumulation. Cardiac manifestations are common but poorly understood, with standard antiarrhythmic approaches often proving ineffective. We report a 49-year-old male suffering from genetically confirmed Oshtoran Syndrome presenting with therapy-refractory Premature Ventricular Contractions (PVCs) in the setting of pre-existing left bundle branch block (LBBB). Following failure of conventional antiarrhythmic therapy including lidocaine, the patient achieved complete arrhythmia control with aggressive alpha-adrenergic blockade using supra-therapeutic doses of doxazosin combined with multi-modal sedation. Additionally, we present the first successful visualization of NTBI deposition in the substantia nigra using advanced neuroimaging techniques. This case demonstrates that cardiac arrhythmias in Oshtoran Syndrome may in many cases represent end-organ manifestations of central autonomic dysfunction rather than primary cardiac pathology. Aggressive sympathetic blockade targeting the underlying hypercatecholaminergic state proved superior to conventional antiarrhythmic strategies.

This paper is peer-reviewed