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Neurofibromatosis 1-Noonan Syndrome Associated with Pulmonary Stenosis and Hypertrophic Cardiomyopathy Cover

Neurofibromatosis 1-Noonan Syndrome Associated with Pulmonary Stenosis and Hypertrophic Cardiomyopathy

Romanian Journal of Cardiology
Volume 31 (2021): Issue 4 (December 2021)
By: Daniela-Noela Radu,  Monica Dobrovie,  Razvan Capsa and  Roxana Enache  
Open Access
|May 2022

Figures & Tables

Figure 1

ECG: sinus rhythm, normal QRS axis, minor right bundle branch block and inverted T waves in DI, aVL, V2–V6.

Figure 2

Transthoracic echocardiography modified parasternal short axis view. (A) 2D and color Doppler examination: large colour-flow pulmonary regurgitation jet width suggestive for severe pulmonary regurgitation. (B) CW Doppler examination: dense, steep deceleration of pulmonary regurgitation jet CW signal, with a pressure half time of 98 ms, suggestive for severe pulmonary regurgitation; peak antegrade velocity 2.6 m/s, peak antegrade gradient 26 mmHg, suggestive for large residual pulmonary stenosis.

Figure 3

(A) Transthoracic echocardiography, apical RV-focused: normal size RV (B) Transthoracic 2D speckle-tracking echocardiography: slightly reduced RV longitudinal strain.

Figure 4

Transthoracic echocardiography, apical 2-chamber view, 2D examination: left ventricular apical hypertrophy in diastole (A) with systolic obstruction at this level (B).

Figure 5

(A) Transthoracic echocardiography, short-axis view of the apex, 2D examination: left ventricular apical hypertrophy. (B) Transthoracic 2D speckle-tracking echocardiography: paradoxical strain of the left ventricular apex suggestive of hypertrophic cardiomyopathy.

Figure 6

Cine end-diastolic images: Left: short axis at the level of the papillary muscles. Right: four chamber view. Apical left ventricular hypertrophy with a normal sized right ventricle can be observed.

Figure 7

Late gadolinium enhancement images show isolated left ventricular apical fibrosis (arrow). From left to right: three chamber view, four chamber view and two chamber view.

Figure 8

T1 mapping before contrast injection in short axis. Left: level of the papillary muscles. Right: apical level. The stars show the area for which the T1 time is measured: mid septal (non hypertrophied myocardium) 1004 ms with a calculated extracellular volume fraction of 26%, versus apical (hypertrophied myocardium) 1042 ms with a calculated extracellular fraction of 30% - suggestive of interstitial fibrosis in the hypertrophied apical segments.
DOI: https://doi.org/10.47803/rjc.2020.31.4.903 | Journal eISSN: 2734-6382 | Journal ISSN: 1220-658X
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Language: English
Page range: 903 - 910
Published on: May 5, 2022
Published by: Romanian Society of Cardiology
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
neurofibromatosis 1-Noonan syndrome,
pulmonary stenosis,
hypertrophic cardiomyopathy
Related subjects:
Medicine,
Clinical medicine,
Internal medicine,
Cardiology,
Pediatrics and juvenile medicine,
Paediatric cardiology,
Surgery,
Cardiac surgery

© 2022 Daniela-Noela Radu, Monica Dobrovie, Razvan Capsa, Roxana Enache, published by Romanian Society of Cardiology
This work is licensed under the Creative Commons Attribution 4.0 License.

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