Introduction:
The dominant mutations in LMNA patients, a gene which encodes the nuclear lamina proteins Lamin A and C, account for ~5%1 of dilated cardiomyopathy. The penetrance of LMNA mutations is age-dependent and associated with high rates of AV block, atrial and ventricular arrhythmias, and ultimately progressive systolic dysfunction with high rates of end stage heart failure.
Early cardiac clinical manifestations include first degree AV block with evident imaging correlates of AV nodal and ventricular septal fibrosis.2 Ventricular arrhythmias (VA) in patients with LMNA cardiomyopathy are malignant, often refractory to medical management and requires iterative device programming and frequently catheter ablations (CA).3,4
Advanced catheter ablation techniques including radiofrequency ablation (RF), surgical cryoablation and epicardial mapping/ablation may offer palliation of recurrent VA, but the prognosis remains poor. Both recurrent VA and progressive heart failure are common in patients even after catheter ablation.5 Challenging intramural and deep septal scar substrates have been described as reason for catheter ablation failure in non-ischemic cardiomyopathy patients even with the lack of fibrosis on imaging studies. 6 To further demonstrate the challenge of managing VA in patients with LMNA cardiomyopathy, we present a case of refractory ventricular arrhythmia to medical and catheter ablation therapies.