Arrhythmogenic or dilated or desmoplakin cardiomyopathy? A challenging case managed by our multidisciplinary cardiogenetic team

Abstract

Arrhythmogenic cardiomyopathy (ACM), characterized by fibro or fibrofatty infiltration of the myocardium with a predominant arrhythmic presentation, is a genetically mediated cause of sudden cardiac death in the young and athletic individuals. We report a case of a severe form of biventricular ACM in a middle-aged man with a family history of cardiomyopathy-related young death. The proband was identified to harbor two novel mutations in the DES and DOLK genes and was managed comprehensively with a multidisciplinary team approach. This report reinforces the need for a dedicated cardiovascular genetics program as well as a population-specific genetic database in developing countries.

Fig. 1

Baseline evaluation of the patient. Panel A: resting ECG with depolarization and repolarization abnormalities in the form of low-voltage QRS complexes, intraventricular conduction delay and global T-wave inversion; Panel B: ECG showing ventricular tachycardia; Panel C: Cardiac magnetic resonance imaging in the coronal section showing dilated RV with dyskinesis and transmural late gadolinium enhancement (LGE) in the RV anterior free wall (*) and patchy and confluent LGE in interventricular septum.

Fig. 2

Pedigree chart of the patient. Note death in sibling secondary to cardiomyopathy.

Fig. 3

Cardiac electrophysiology study (EPS) and radiofrequency ablation (RFA) procedure. Panel A: fluoroscopy of endo-epicardial mapping performed in the patient; Panel B: color-coded bipolar voltage electro-anatomical map of the RV endocardium. Note the low bipolar voltage zones in the RV anterior free wall; Panel C: color-coded bipolar voltage electro-anatomical map of the RV epicardium. Note the extensive low bipolar voltage in the RV epicardium; Panel D: radiofrequency ablation points in the epicardium (grey shell) and endocardium (green shell); Panel E: electro-anatomical signals in the RV epicardium during ventricular tachycardia. Note the fractionated signals spanning the duration of diastole; Panel F: fluoroscopic picture of the dual chamber ICD implanted in the patient.

Fig. 4

Entrainment of VT during EPS Panel A shows the entrainment of VT1 from the RV epicardium resulted in concealed fusion with Stim-QRS/VT CL ratio of 35 %. Panel B shows the entrainment of VT2 from the RV epicardium at the same site resulting in concealed fusion with Stim-QRS/VT CL ratio of 52 %, thus suggesting a shared isthmus for both the VT circuits.