Key result
Pathogenic variants are present in ~83% of young pacemaker recipients with structural heart disease.
Why the study?
Early-onset rhythm disturbances in young adults may stem from pathogenic genetic variants and require device upgrade, but the impact of genetic testing and structural heart disease is poorly defined.
Observational (n=22)
Yes
Absolute Event Rate: 33.3% vs 29.4%
Young pacemaker recipients have a high prevalence of pathogenic genetic variants, and genetic testing frequently prompts necessary device upgrades to ICD or CRT.
Observed upgrade rates highlight need for careful initial device selection; leaves open optimal strategies pending larger studies.
Background/Introduction Early-onset rhythm disturbances such as advanced atrioventricular block or symptomatic severe sinus node dysfunction are uncommon in young adults and may be associated with pathogenic genetic variants. Some patients subsequently require device upgrade to defibrillator or resynchronisation therapies. Purpose To compare patients with and without structural heart disease at the time of pacemaker implantation and to assess the impact of genetic testing on clinical follow-up and upgrade indications. Methods We conducted a retrospective observational study of patients younger than 60 years who underwent pacemaker implantation for advanced atrioventricular block or severe sinus node dysfunction, excluding reversible causes, in two tertiary centres from 2015 to January 2025. Genetic testing was incorporated into aetiological evaluation from 2021. Patients were grouped according to the presence or absence of structural heart disease (left ventricular wall thickness greater than 15 mm and/or ejection fraction below 45%). Demographic, echocardiographic and device-related outcomes were analysed. Results Twenty-two patients were included (Group A n=17 without structural disease; Group B n=6 with structural disease). Group A was younger (43.7 versus 51.8 years, p<0.05). Pathogenic variants were identified in 47% of Group A (mainly LMNA, EMD and DSP) and in 83.3% of Group B (predominantly PRKAG2, LMNA and MYH7). Physiological pacing was implanted in 15% versus 33.3% of patients respectively. During follow-up, device upgrade to implantable cardioverter-defibrillator or resynchronisation therapy occurred in 29.4% of Group A and 33.3% of Group B. Genetic findings prompted upgrade in 62.5% of cases, whereas 37.5% were upgraded due to ventricular tachycardia or progression of cardiomyopathy. Ventricular tachycardia occurred in 11.8% versus 50% of patients in Groups A and B respectively, without statistically significant differences. Conclusion(s) Young patients requiring pacemaker implantation, with or without structural heart disease, show a high prevalence of pathogenic variants. The need for device upgrade is considerable in both groups. Genetic testing is essential for risk stratification and long-term management in this population.Baseline characteristics
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Moreno et al. (2026) conducted an observational in Advanced atrioventricular block or severe sinus node dysfunction (n=22). Structural heart disease vs. Absence of structural heart disease was evaluated on Device upgrade to implantable cardioverter-defibrillator or resynchronisation therapy. Among young pacemaker recipients, pathogenic variants were found in 83.3% with and 47% without structural heart disease, with device upgrades occurring in 33.3% and 29.4%, respectively.
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