The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?

Abstract

The results of our study suggest that a subset of patients originally diagnosed with IVF may carry clinically-relevant variants in genes associated with cardiac channelopathies and cardiomyopathies. Although misclassification of other cardiac channelopathies as IVF appears rare, our findings indicate that the possibility of CPVT as the underlying disease entity should be carefully evaluated in IVF patients.

Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum

“…A similar genetic testing yield was also observed in the recent unexplained SCA/IVF sequencing studies by Mellor et al [13/102 (12.8%)] [24], Visser et al [1/33 (3.0%)] [30], and Leinonen et al [7/76 (9.2%)] [31]. The decreased yield of genetic testing in our study is likely due, at least in part, to lower utilization of broad multi-phenotype genetic testing (i.e.…”

Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation

“…Also, the very low rate of exercise testing and Holter-ECG recording could have led to missed opportunities to diagnose catecholaminergic polymorphic ventricular tachycardia cases or unmask some long QT syndromes. 46 Concerning adrenaline challenge and QT analysis, its predictive value and interpretation remains debated and often challenging, whereas it is much more useful and simple to perform both an exercise test and a 12-lead 24 h Holter recording to observe specific changes in repolarization during the recovery phase or night-time. These striking findings illustrate the gap between results reported by highly specialized electrophysiology teams working in tertiary centres, and our real-world approach involving numerous unselected hospitals.…”

“…Nevertheless, being initiated in only 9 (18.4%) patients in the present study, there is a clear, present scope to enhance the role of genetic testing in the diagnostic armamentarium, particularly in the light of promising results from recent studies. 46 …”

Idiopathic Ventricular Fibrillation: Diagnosis, Ablation of Triggers, Gaps in Knowledge, and Future Directions

“…In the search for underlying causes of VF, the importance of exercise testing cannot be overemphasized, since a substantial number of patients with VF have undiagnosed catecholaminergic PMVT. 16 Exercise testing may also unmask occult long-QT syndrome. A corrected QT interval of more than 445 ms at four minutes of recovery from exercise has been used to detect patients with long-QT syndrome types 1 and 2.…”