OBJECTIVES: The aim was to investigate at what age electrocardiographic characteristics of long QT syndrome type 3(LQT3) and Brugada syndrome(BS), based on a single SCN5A mutation, appear. BACKGrOUND: The QT inter.a.(...
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OBJECTIVES: The aim was to investigate at what age electrocardiographic characteristics of long QT syndrome type 3(LQT3) and Brugada syndrome(BS), based on a single SCN5A mutation, appear. BACKGrOUND: The QT inter.a.(QT) in LQT3 is prolonged during bradycardia. It is not clear yet if this is obvious in young children with a relative fast heart rate(Hr). METHODS: Thirty-six children with an SCN5A gene mutation(1795insD) and 46 non-carrier siblings were investigated. In different age groups, Hr, QT, QTc, and ST segment elevation on a 12-lead electrocardiogram(ECG), and Hr, QT, QTc, and ΔQT after the longest pause in a Holter(recording) were evaluated. rESULTS: In all age groups, Hr.a. rest tended to be lower in carriers than in non-carriers, and QT was longer in carriers than in non-carriers. The Brugada phenotype was found >5 years. Gender specific differences were not identified. The QT at lower Hr.a.d ΔQT were longer in carriers than in non-carriers. A QTc ofr(sensitivity 100%; specificity 88.4%) and ΔQTre good predictors for having LQT3. CONCLUSIONS: We conclude that electrocardiographic characteristics of LQT3 and BS show age-dependent penetrance. A QT prolongation and conduction disease were present from birth onwards,wher.a. ST-segment elevation only developed >5 years. Good tools for clinical diagnosis of LQT3 in this family are QTc at the lowest Hr.a.d ΔQT after.a.pause in a Holter, even at very young age.
Puprose: It is a challenge to prevent irreversible amblyopia in infants suffering from Peters anomaly. In some cases of centrally located corneal opacifications an optical sector iridectomy can not lead to a clear opt...
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Puprose: It is a challenge to prevent irreversible amblyopia in infants suffering from Peters anomaly. In some cases of centrally located corneal opacifications an optical sector iridectomy can not lead to a clear optical axis. The homologous penetrating keratoplasty as early surgical procedure has shown an extremely poor outcome with a high risk of irreversible graft failure. We report on the autologous ipsilateral rotating penetrating keratoplasty in an eight- week- old infant suffering from Peters anomaly. Patients: An autologous ipsilateral rotating penetrating keratoplasty was performed in an eight- week- old infant suffering from Peters anomaly to prevent irreversible amblyopia. results: After.a.follow- up time of 8 months we saw a clear graft within the optical axis without any complications in wound healing. We removed the single sutures two months after keratoplasty. Postoperative astigmatism could be corrected first by fitting a special nursery contact lens and after reduction of astigmatismbecause of suture removalwe fitted special nursery glasses. The intraocular pressure remained within the nor.a. range during the follow- up period. Conclusion: The autologous ipsilateral rotating penetrating keratoplasty should be considered superior to homologous keratoplasty in infants withPeters anomaly if sector iridectomy is not advisable because of a central corneal opacification. resulting high refractive errors can be successfully corrected by special contact lens fitting or by nursery glasses.
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