Have a personal or library account? Click to login
RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology Cover

RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology

Open Access
|May 2022

Figures & Tables

Fig. 1

Electrocardiogram: heart rate: 90-120 beats/minute, extrasystolic arrhythmia with supraventricular and ventricular extrasystoles
Electrocardiogram: heart rate: 90-120 beats/minute, extrasystolic arrhythmia with supraventricular and ventricular extrasystoles

Fig. 2

Transthoracic echocardiography parasternal long axis view: hypertrophic cardiomyopathy predominantly septal (IVS-interventricular septum, LPW-left posterior ventricular wall, LA-left atrium, AoV-aortic valve)
Transthoracic echocardiography parasternal long axis view: hypertrophic cardiomyopathy predominantly septal (IVS-interventricular septum, LPW-left posterior ventricular wall, LA-left atrium, AoV-aortic valve)

Fig. 3

Continuous-wave Doppler apical 4 chambers view: hypertrophic cardiomyopathy predominantly septal with continuous-wave Doppler with a peak gradient in LVOT of 147 mmHg (LVOT-left ventricular outflow tract)
Continuous-wave Doppler apical 4 chambers view: hypertrophic cardiomyopathy predominantly septal with continuous-wave Doppler with a peak gradient in LVOT of 147 mmHg (LVOT-left ventricular outflow tract)

Evolutive state of the patient ( IVS (s) – interventicular septum – systolic, IVS (d) – interventricular septum – diastolic, LVOT – left ventricular outflow tract)

Parameters /Age2 months old5 months old8 months old11 months old
IVS (s)/IVS (d) - cm2.032.18/2.10 2.12/1.85
Peak gradient of Pulmonary stenosis valve (mmHg)577574128
Peak gradient of pulmonary infundibular stenosis (mmHg)286363100
Peak gradient of LVOT(mmHg)601409578
Ponderal index /grade of dystrophy0.84/ dystrophy grade0.7/dystrophy grade II0.62/dystrophy grade III0.61/dystrophy grade III
DOI: https://doi.org/10.2478/jccm-2022-0007 | Journal eISSN: 2393-1817 | Journal ISSN: 2393-1809
Language: English
Page range: 126 - 130
Submitted on: Jul 20, 2021
Accepted on: Apr 11, 2022
Published on: May 12, 2022
Published by: University of Medicine, Pharmacy, Science and Technology of Targu Mures
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2022 Amalia Făgărășan, Hamida Al Hussein, Simina Elena Ghiragosian Rusu, published by University of Medicine, Pharmacy, Science and Technology of Targu Mures
This work is licensed under the Creative Commons Attribution 4.0 License.