Author + information
- Alessandra Serio, MD,
- Nupoor Narula, BS,
- Antonio Frontera, MD,
- Fabiana Isabella Gambarin, MD and
- Eloisa Arbustini, MD⁎ ()
- ↵⁎Centre for Heritable Cardiovascular Diseases, IRCCS Foundation Policlinico San Matteo, Piazzale Golgi 19, 27100 Pavia, Italy
We congratulate Nunn et al. (1) for their interesting report published recently in the Journal. They reported that J-point elevation in the inferolateral leads was more prevalent in the first-degree relatives of patients with sudden arrhythmic death syndrome (SADS) than in controls. They suggested that early repolarization was a potentially heritable proarrhythmic marker, risk modifier for lethal arrhythmia, or marker of proarrhythmia in SADS (1). Because J-point elevation is highly prevalent in the healthy population, the report by Nunn et al. (1) encourages the development of better clinical algorithms. Because this study was confined to the relatives of patients with SADS, the significance of J-point elevation found in clinically healthy individuals (electrocardiogram obtained for pre-operative clearance, sports suitability, or job-related check) in the absence of a family history of SADS would probably be minimal. Should it be important to obtain family history in individuals showing J-point elevation? The researchers highlighted that a gene association study or linkage analysis to identify genetic candidates is a logical next step. Although waiting for the availability of more extensive knowledge on the genetic basis of J-point elevation, the risk of missing a potential warning marker would continue to loom in clinical practice.
The group of J-wave syndromes is a spectrum of disorders that involve accentuation of the epicardial action potential notch in different regions of the heart that may predispose patients to develop phase 2 reentry and ventricular tachyarrhythmias. J-point elevation has been divided into 3 subtypes (2,3). An early repolarization pattern in the lateral precordial leads is rarely seen in survivors of ventricular fibrillation (VF) (type 1). On the other hand, J-point changes in inferior or inferolateral leads are usually associated with many cases of idiopathic VF (type 2), and global early repolarization patterns are associated with the highest risk for development of malignant arrhythmias, including VF storms (type 3).
We have observed J-point elevations in young carriers of mutations of various genes (including lamin A/C and plakophilin 2), as well as in healthy relatives of patients with mutation (Fig. 1). After the publication of Nunn et al. (1), this finding cannot be ignored, and it will be important to develop a consensus for the approach to healthy individuals with J-point elevation with and without a family history of SADS.
- American College of Cardiology Foundation