Nörofibromatozis Tip-1 Tanısıyla Takipli Çocuk Hastalarda Kardiak Aritmi Belirteçlerinin Değerlendirilmesi: Tek Merkez Çalışması

Bu çalışmamızda ki amacımız Nörofibromatozis tip 1 tanılı hastalarda kardiak tutulumun sıklığı ve çeşitliliğini gösterip diğer klinik bulgularla karşılaştırılmas ıdır. Hastalar ve Yöntem: Çocuk Nöroloji Polikliniği’ne 01/09/2019-01/09/2020 tarihleri arasında Nörofibromatozis tip 1 tanısı alan hastalar çalışmaya dahil edildi. Hastaların dosya kayıtlarından demografik bilgileri, muayene bulguları, beyin manyetik rezonans görüntüleri toplandı. Elektrokardiografi ve ekokardiografi Çocuk Kardioloji Uzmanı tarafından incelenip kayıt altına alındı. Bulgular: Çalışmaya 17 hasta kabul ettik. Altı hastamız (%35,3) sporadik 11 hastamız (%64,7) familyal Nörofibromatozis-1’di. Hastalarımızın tamamında ciltte cafe au late lekeleri (%100), 10 tanesinde (%58,8) aksiller ve/veya inguinal çillenme 3 (6/17-%35,2) tanesinde optik glioma ve papil ödemi 3 tanesinde ise lisch nodülü tespit ettik. Kardiyak açıdan yaptığımız incelemede 1 hastada QT uzunluğu, 3 hastada subendokardiyal nörofibromla uyumlu nodüler görünüm, 3 hastada mitral yetmezlik, 1 hastada patent foramen ovale, 1 hastada atrial septal defekt, 1 hastada ise bi küspit aorta vardı. Sonuç: Çalışmamızda 3 hastamızda subendokardiyal nodüler hiperekojen görüntü mevcuttu. Bu bulgular oldukça nadir olmasına rağmen bizim 17 hastamızın 3’ünde saptanması bu patolojinin daha sık olabileceğini düşündürmektedir.

Evaluation of Cardiac Arrhythmia Markers in Pediatric Patients with a Diagnosis of Neurofibromatosis T ype-1: A Single Center Study

Our aim is to show the fequency and variety of cardiac involvement of Neurofibromatosis type 1 patients and to compare them with other clinical findings. Patients and Methods: Patients diagnosed with Neurofibromatosis type 1 in Pediatric Neurology Clinic between 01/09/2019 and 01/09/2020 were Demographic information, examination findings, brain magnetic resonance images were collected from the files of the patients. Electrocardiography and echocardiography were examined and recorded by the Pediatric Cardiology Speciali st. Results: We accepted 17 patients. Six patients (35.3%) were diagnosed with sporadic Neurofibromatosis type 1, while 11 patients (64.7%) had familial Neurofibromatosis type 1. All of our patients had cafe au late spots on the skin. In addition, 10 (58.8%) patients also had axillary and / or inguinal freckles. We detected optic glioma in 3 of our patients with ocular involvement, and lish nodules in 3 of them with papillary edema. In cardiac examination, we found QT length in 1 patient’s and we detected nodular appearance compatible with subendocardial neurofibroma in 3 patients Conclusions: In our study, unlike the literature, subendocardial nodular hyperechogenic appearance was present in 3 patients. Although these findings are quite rare, subendocardial nodular hyperechogenic images in 3 of our 17 patients suggest that this pathology may be more common

Kaynakça

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