부산대학교 도서관

Introduction:Sudden cardiac (SCD) was described in connective tissue disorders (CTD) such as Marfan syndrome (MFS), Loews Dietz syndrome, TGFBetaR2 mutations as well as in mitral valve prolapse. The etiology of SCD in CTD is unknown however, although increased ventricular arrhythmias and ventricular repolarization abnormalities have been descrbed.Hypothesis:CTD patients (pt) may have a higher incidence of abnormal ventricular repolarization (AVR), early depolarization (ER) and longer QT c intervalsMethods:The CTD population of 3 referral centers was analysed for ECG findings, history of ventricular tachycardia (VT) and syncope. The ECGs were analyzed by 2 electrophysiologists (EP) for AVR, ER and QT interval and classified as normal/abnormal, in the case of discrepancy, a 3rd EP made the final decision. Results of genetic testing were collected. QTcprolongation defined as >460ms in children <16 years, respectively 480s in men, and 490ms in women.Results:There were 119 pt, age 35 years (range 2 -79 years), 67 men (56%) . In 64 pt, genetic testing revealed a mutation (45 FBN1, 2 FBN1 plus another mutation, 5 SMAD 3 mutation, 4 ACTA2 mutation, 1 COL3A1, 3 TGFB2, 1 LDS 1/2mutation, 3 EDS IV mutation)- A history of syncope was present in 6 pt. SCD occurred in 1 pt (12 years old, SMAD 3 mutation, death 1 week after aortic root surgery wit. no explanation at autopsy but Qtc prolongation, see Figure). VT was described in 7 pt. Average heart rate was 69 (14)bpm, PR interval 172 (151), QRS 107 (26), QTc421 (30ms). The ECG was abnormal in 35 patients(29%). AVR was present in 34 pt, QTc prolongation was present in 4 of 119 patents (4%). QTcprolongation could not be predicted by the genetic results. Ventricular tachycardia was described in 7 patients (7%, ECG normal in 3, AVR in 2, QTc prolongation in 1). A Holter ECG was done in 35 pt.Conclusions:Analysis of the resting ECG is important in pt CTD. In the presence of repolarisation anomalies and Qtc prolongation, careful surveillance is recommended.