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

Abstract

Introduction: Our aim is to evaluate the cardiac involvement of Neurofibromatosis type 1 patients in our region and to compare them with other clinical findings. In this study, we wanted to show the frequency and variety of cardiac involvement. Material and Methods: Patients diagnosed with Neurofibromatosis type 1 in Hatay Mustafa Kemal University Medical Faculty Pediatric Neurology Clinic between 01/09/2019 and 01/09/2020 were included in the study. The patients included in the study were examined by a Pediatric Cardiology Specialist, and echocardiography and electrocardiography were taken. 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 Specialist. Results: We accepted 17 patients from our center to the study. 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. When we looked at central nervous system involvement, we encountered various involvements in brain MRIs of 8 (47%) patients. In our cardiac examination, we found QT length in 1 patient’s electrocardiography. In the echocardiography we performed for the detection of cardiac structural pathologies, we detected nodular appearance compatible with subendocardial neurofibroma in 3 patients, mitral insufficiency in 3 patients, patent foramen ovale in 1 patient, atrial septal defect in 1 patient, and bicuspid aorta in 1 patient. Discussion: 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. In addition, one of our patients had a long QT. As far as we know, this is the first case of Neurofibromatosis type 1 and Long QT syndrome. In conclussion; Cardiac involvement in patients with Neurofibromatosis type 1 could more common than mentioned in the literature.