1Universitätsklinikum Mannheim I. Medizinische Klinik Mannheim, Deutschland; 2Universitätsklinikum Mannheim Med. Klinik IV Mannheim, Deutschland
Introduction
Brugada syndrome (BrS) is a genetic disorder characterized by typical ECG changes and association with spontaneous ventricular tachyarrhythmia (VTA) and sudden death in young patients. BrS has been widely established to be particularly prevalent in men, however less information exists regarding female patients and their long-term risk.
Objectives
The purpose of this study was to investigate the clinical characteristics and long-term prognosis of women with BrS.
Methods
This study includes a retrospective analysis of a single-center cohort of patients followed and observed for relevant clinical outcomes.
The data collected included demographic data, severity of symptoms (e.g. syncope, VTA), cardioverter-defibrillator logs and occurence of sudden cardiac death.
Results
317 patients were diagnosed with BrS between 1998 and 2023. Among those, 112 (36%) were female. There were 58 probands and 54 family members with definitive diagnosis of BrS. At presentation, 5 patients (4%) were symptomatic with history of survived cardiac arrest and/or documented VTA. 29 (26%) had history of unexplained syncope and 78 (70%) were asymptomatic. The average age at diagnosis was 42,1±15,1 yrs as opposed to 40,1±14,2 yrs in men. Females presented less frequently with a type 1 ECG pattern (5% vs 21%; P<0.01), had a trend to a higher rate of family history of sudden cardiac death (31% vs 25; P n.s.), and had less sustained VTA on EPS (4% vs 19%; P<0.01). Genetic testing was performed in 89 females (79% of the sample) and pathogenic variants were present in 36 (40%) women. An implantable cardioverter-defibrillator was inserted in 24 (31%) females for primary prevention.
During mean follow-up of 138±72 months, 11 women had cardiovascular events (syncope, VT/VF or death).
Syncope was most common and occurred in 8 cases. No VTA were documented in any female patient. In the group of ICD patients, 8 shocks have occurred. None of these were deemed appropriate by medical controls.
There were 3 deaths. Two were considered non-arrhythmic due to pulmonary embolism and breast carcinoma. One ICD patient died suddenly during sleep. Unfortunately, no device interrogation data was available.
Conclusion
Women with BrS are usually less symptomatic and older at the time of diagnosis than men, and they show a lower frequency of life-threatening arrhythmias during follow-up. Despite this, the female sex does not represent a risk-free group, and the fact that they present with the ECG BrS pattern less frequently makes diagnosis more difficult. Implantable defibrillators are frequently associated with negative outcomes, and the justification for implantation in women should be balanced against the risks of inappropriate therapy and device-related problems. Further studies are still needed to elucidate the pathophysiological mechanisms underlying these gender differences.