Key result
Rett syndrome patients exhibit ~23 msec longer QTc intervals and abnormal T-wave morphology versus controls.
Why the study?
Rett syndrome is associated with a high incidence of sudden death, and ECG markers of cardiac repolarization such as prolonged QTc are linked to potentially lethal ventricular arrhythmias.
Do patients with Rett Syndrome have abnormal cardiac repolarization characteristics compared to healthy controls?
Case-Control (n=234)
Yes
Do patients with Rett Syndrome have abnormal cardiac repolarization characteristics compared to healthy controls?
Patients with Rett Syndrome exhibit significant cardiac repolarization abnormalities, including altered T-wave morphology, which may be linked to genotype and predictive of mortality even with normal QTc.
Aim Rett Syndrome (RTT) is a developmental encephalopathy disorder that is associated with a high incidence of sudden death presumably from cardiorespiratory etiologies. Electrocardiogram (ECG) abnormalities, such as prolonged heart-rate corrected QT (QTc) interval, are markers of cardiac repolarization and are associated with potentially lethal ventricular arrhythmias. This study investigates the cardiac repolarization characteristics of RTT patients, including QTc and T-wave morphology characteristics. Method A retrospective quantitative analysis on 110 RTT patients and 124 age and sex-matched healthy controls. Results RTT patients had longer QTc, more abnormal T-wave morphology, and greater heterogeneity of cardiac repolarization parameters compared to controls. Even RTT patients without prolonged QTc had more abnormal ECG and T-wave characteristics than controls. Among RTT patients, MECP2 patients had prolonged QTc compared to CDKL5 and FOXG1 patients. A subset of five RTT patients who died had normal QTc, but more abnormal T-wave morphology than the remaining RTT patients. Interpretation Cardiac repolarization abnormalities are present in RTT patients, even without long QTc. T-wave morphology is related to RTT genotype and may be predictive of mortality. These findings could be used to help the management and monitoring of RTT patients.
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Collins et al. (2023) conducted a case-control in Rett syndrome (n=234). Rett syndrome vs. Healthy controls was evaluated on QTc interval (msec) (p=<0.001). Rett syndrome patients exhibited significantly longer QTc intervals (445.6 vs 422.8 msec) and more abnormal T-wave morphology compared to healthy controls.
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