Cardiac Genetics -> Clinical Genetics and registries D-MP11 - What's the Latest in Cardiogenetics? (ID 49) Moderated ePoster

D-MP11-01 - Natural History And Clinical Characteristics Of The First Ten Danish Families With Familial ST-depression Syndrome (ID 1390)


Background: We recently described the novel inherited arrhythmia disease Familial ST-depression Syndrome characterized by constant, non-ischemic ST-depressions.
Objective: To describe the clinical characteristics of the first ten Danish families with the syndrome.
Methods: We identified ten apparently unrelated families with ≥2 members with the ECG phenotype. We collected and analyzed pedigrees, demography, paraclinical variables, and clinical endpoints.
Results: A total of 32 affected individuals was identified (44% men). Pedigree analysis was consistent with autosomal dominant inheritance. The mean age at ECG diagnosis was 46.9 years (range 11-79), comorbidities were uncommon, and there was no underlying ischemic/structural heart disease. The ECG phenotype seemed to appear during adolescence and the ST-depressions were most pronounced in leads V4, V5, and II. Exercise accentuated the ST-depressions (maximum mean difference between rest/stress 131µV in V5). Atrial fibrillation was the most common clinical endpoint (25%; mean age at diagnosis 62.5 years). Reduced left ventricular ejection fraction (≤50%) was observed in 16% and 6% had ventricular arrhythmias; both endpoints were only observed in men. There were no cases of confirmed sudden cardiac death. A consistent finding was that the ECG phenotype was tolerated for decades before arrhythmias or heart failure occurred.
Conclusion: We identified ten families with ST-depression syndrome with autosomal dominant inheritance. The ST-depressions are constant but tolerated for many years. Atrial fibrillation is relatively common whereas ventricular arrhythmias are not.