Report aims to educate health care professionals on how to understand, diagnose increasingly researched arrhythmic conditions that lead to sudden cardiac death
Two cardiovascular experts from Lankenau Institute for Medical Research (LIMR) and Lankenau Heart Institute (LHI), part of Main Line Health, led an international task force to develop a first-of-its-kind consensus report and book on J-wave syndromes, an increasingly researched cause of ventricular fibrillation responsible for sudden cardiac death.
The publications follow months of work from a task force of cardiac specialists from 17 biomedical facilities from around the world, led by Charles Antzelevitch, PhD, professor and executive director of cardiovascular research at LIMR and director of research at LHI, along with Gan-Xin Yan, MD, PhD, professor at LIMR and clinical cardiologist at Lankenau Medical Center.
A book, titled J-wave syndromes, will accompany the manuscript J-wave syndromes expert consensus conference report—the latter of which will be published simultaneously in the medical journals Heart Rhythm, Journal of Arrhythmia and EP-Europace. The consensus report and book were written to assist the health care community in understanding the underlying mechanisms that lead to these syndromes, how to diagnose them and how to treat them.
“While the ultimate judgment regarding care of a particular patient must be made by the health care provider based on all of the facts and circumstances presented, our expert consensus report is intended to assist health care professionals in their clinical decision making,” said Dr. Antzelevitch. “It is designed to keep physicians fully informed as to new genetic information, diagnostic criteria, risk stratification strategies and approaches to therapy for these serious heart conditions.”
Manifestations of J-wave syndromes
Research around J-wave syndromes has followed stories of seemingly healthy young people dying suddenly—often during sleep—driving cardiovascular experts to discover the cause and risk factors associated with these deaths.
The two most common manifestations of J-wave syndromes are early repolarization syndrome and Brugada syndrome (BrS), which are both associated with a person’s susceptibility to develop a rapid and irregular heart rhythm called polymorphic ventricular tachycardia and ventricular fibrillation. This can lead to sudden cardiac death in young adults—especially young men—who have no apparent structural heart disease. These cardiac conditions also can lead to sudden infant death syndrome (SIDS).
The authors noted that early repolarization pattern (ERP)—prevalent in up to five percent of the population—often occurs in healthy individuals, particularly in young males, black individuals and athletes. ERP has also been associated with variants in seven genes and has been shown to run in families. With a relatively high prevalence of ERP in the general population, this pattern was previously thought to be benign. Dr. Antzelevitch and his team were the first to provide evidence that not all ERP are benign and that some can lead to life-threatening arrhythmias.
“The challenge ahead is to determine who among those presenting with ERP are truly at risk, and provide early intervention,” Dr. Antzelevitch said.
BrS causes a disruption of the heart's normal rhythm, leading to irregular heartbeats in the heart's lower chambers; if untreated, it can cause fainting, seizures, difficulty breathing or sudden death. It has been associated with variants in 18 genes. The mean age at the time of cardiac arrest in Brugada patients is approximately 40 years, and the majority develops symptoms between 20 and 65 years of age, although it can appear in the first few weeks of life in rare cases, contributing to SIDS. The prevalence of BrS worldwide is .05 percent, but it occurs more frequently in people of Southeast Asian descent. It is also nearly 10 times more common in men than women.
J-wave syndromes task force methodology
Task force members were selected to include professionals involved with the medical care of patients with J-wave syndromes, as well as those involved in research into the mechanisms underlying these conditions. Task force members undertook a comprehensive review of the literature on J-wave syndromes. They evaluated methods of diagnosis, risk stratification, approaches to therapy and mechanistic insights, including assessment of the risk/benefit ratio. The level of evidence found and the strength of their recommendations regarding particular management options were weighed and graded to complete the report.
The expert consensus document has received endorsement from heart care associations from around the world, including the Heart Rhythm Society, the Europe-based Heart Rhythm Association, the Asia Pacific Heart Rhythm Society and Sociedad Latino Americana de Estimulación Cardíaca y Electrofisiologia, which serves Latin American nations.