Rasmus Frosted, Kathrine Kold Sørensen, Mikkel Porsborg Andersen, Christoffer Polcwiartek, Chaoqun Zheng, Helle Collatz Christensen, Kristian Hay Kragholm, Claus Graff, Christian Torp-Pedersen, Alex Hørby Christensen
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引用次数: 0
Abstract
Background: Familial ST-depression Syndrome (Fam-STD) is a recently identified inherited cardiac disease characterized by a distinct electrocardiographic phenotype and occurrence of arrhythmias and heart failure.
Objective: We aimed to investigate the electrocardiographic prevalence of the Fam-STD and its association with cardiac events in a large, nationwide cohort.
Methods: We used a Danish nationwide ECG database containing 11,952,430 ECGs, from 2,485,987 unique individuals. We excluded ECGs from children <15 years and ECGs with likely secondary causes of ST-segment deviations. The Fam-STD phenotype prevalence was assessed according to the original (Fam-STD-2018) and revised (Fam-STD-2022 probands/relatives) proposed diagnostic criteria. Through linkage with national registries, we evaluated the risk of a composite cardiac endpoint (new-onset atrial fibrillation, ventricular arrhythmias, heart failure, cardiac device implantation) and all-cause mortality using cox proportional hazard models.
Results: A total of 6,352,104 ECGs (1,890,184 individuals; 55% females; 3.4 ECGs per individual) remained after application of the exclusion criteria. We found 56 (3/100,000) individuals fulfilling Fam-STD-2018, 173 (9/100,000) fulfilling Fam-STD-2022-probands, and 4,975 (263/100,000) fulfilling Fam-STD-2022-relatives criteria. During a mean follow-up of 2.4±3.4 years we observed increased risks of the composite cardiac endpoint (hazard ratio (HR) 4.4[CI:1.2-15.9], 3.6[CI:2-6.5], 2.21[CI:2-2.5]) and all-cause mortality (HR 6.2[CI:3.6-10.6], 3.1[CI:1.7-1.9], 1.8[CI:1.7-1.9]), for Fam-STD-2018, Fam-STD-2022-probands and Fam-STD-2022-relatives, respectively, compared to matched controls without ST-deviation.
Conclusion: The Fam-STD ECG proband phenotype is rare and has a prevalence in Denmark of 3-9/100,000, fairly similar to estimates of other inherited arrhythmia syndromes. The increased risk of cardiac events and mortality highlights the importance of early identification to allow preventive interventions.
期刊介绍:
HeartRhythm, the official Journal of the Heart Rhythm Society and the Cardiac Electrophysiology Society, is a unique journal for fundamental discovery and clinical applicability.
HeartRhythm integrates the entire cardiac electrophysiology (EP) community from basic and clinical academic researchers, private practitioners, engineers, allied professionals, industry, and trainees, all of whom are vital and interdependent members of our EP community.
The Heart Rhythm Society is the international leader in science, education, and advocacy for cardiac arrhythmia professionals and patients, and the primary information resource on heart rhythm disorders. Its mission is to improve the care of patients by promoting research, education, and optimal health care policies and standards.