ICNC Abstracts, ICNC 2018

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Assessment of cardiac involvement in childhood Neurofibromatosis Type 1 diagnoses, identification of Rasopathic cases
Ilyas Emre Tekdemir, Deniz Yüksel, Vehbi Dogan, Ayşe Aksoy, Hulya Kayılıoglu, Ulkuhan Oztoprak, Erhan Aksoy, Cigdem Sel

Last modified: 2018-09-09


Aims: In this study, it was aimed to investigate the cardiac involvement status of neurofibromatosis type 1 cases, which is one of the most common causes of RASopati group diseases.

Material and Methods: In this study, A total of 114 patients who received NF-1 who applied to our hospital between January 2011 and December 2017 were included.

Results: The mean age of the cases is 10.43 ± 4.5 years (1-18 years); 59 (51.8%) were female and 55(48.2%) were male. Of the 114 patients, 58(50.9%) were evaluated at least once by pediatric cardiology, and only one patient was palpable in the cardiac system, and one patient complained of fatigue quickly. Systemic examination of the two patients revealed hypertension. Cardiac evaluation of NF-1 patients revealed that 19 patients (32.8%) had at least one cardiac pathology. Only one patient's ECG had arrhythmia. The most common cardiac pathology was isolated mitral valve insufficiency in 8 patients (13.7%) . Pulmonary stenosis was observed in 1 patient (1.7%) and in 2 patients (3.4%) in hypertrophic cardiomyopathy. There was no difference between the patients with and without cardiac pathology in terms of the frequency of diagnosis and the frequency of clinical features (all p> 0.05)

Conclusion: Based on our data, we suggest that all NF-1 patients should be assessed cardiacly at the time of diagnosis and follow-up, since the frequency of occurrence of these cardiac pathologies does not correlate with the diagnostic criteria, the number of diagnostic criteria, and the clinical characteristics of patients.


Neurofibromatosis type 1, Rasopathies, cardiac pathology

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