A case of a familial ST segment depression syndrome

Hereditary channelopathies are an important cause of arrhythmias and sudden cardiac death in young people. In recent years, a new phenotype has been described, a familial asymptomatic ST-segment depression associated with a high risk of arrhythmogenic complications. Objective. To present a clinical case of asymptomatic ST-segment depression in an adolescent and his mother, and discuss this phenomenon in the context of published data on «familial ST-segment depression syndrome». A clinical case description. Patient A., 13 years old, with an episodic increase in blood pressure (BP) was monitored. The patient received electrocardiography (ECG), daily ECG and blood pressure monitoring, echocardiography, treadmill testing, CT scans with coronary angiography, and consultations at the Yu.E. Veltischev Research Clinical Institute of Pediatrics of the Pirogov Russian National Research Medical University of the Ministry of Health of Russia. The patient’s mother was additionally examined. Results. The patient showed persistent ST-segment depression in leads V4—V6, aggravated after exercise. During stress tests, the rhythm and conductivity remained stable, and no structural heart abnormalities were detected. Mother’s ECG showed similar findings with no symptoms or signs. No genetic testing was performed. Discussion. The data obtained are consistent with the previously described cases of the familial ST-depression syndrome, which has an autosomal dominant type of inheritance, high penetrance, and association with arrhythmias. A specific feature includes the stability of ECG changes and their worsening during physical activity. The absence of structural abnormalities excludes the ischemic nature of the changes. Conclusion. The case presented illustrates the possibility of detecting «familial ST-depression» in children and adults. The importance of long-term observation and timely diagnosis of hereditary electrocardiographic phenomena associated with the risk of arrhythmias and sudden cardiac death is emphasized.