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.