The added value of the electrocardiogram in Noonan syndrome
| Autor: | Floris E A Udink Ten Cate, Eefke Vos, Erika Leenders, Jos M. T. Draaisma, Sterre R Werkman |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
Heart Defects
Congenital medicine.medical_specialty Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] Short stature Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18] Electrocardiography Internal medicine medicine Humans cardiovascular diseases Retrospective Studies business.industry Significant difference Noonan Syndrome Genetic disorder Retrospective cohort study General Medicine medicine.disease Pulmonary Valve Stenosis Stenosis Pediatrics Perinatology and Child Health Cohort Cardiology Noonan syndrome Left axis deviation medicine.symptom Cardiology and Cardiovascular Medicine business |
| Zdroj: | Cardiology in the Young, 32, 6, pp. 936-943 Cardiology in the Young, 32, 936-943 |
| ISSN: | 1047-9511 |
| Popis: | Contains fulltext : 283135.pdf (Publisher’s version ) (Open Access) Noonan syndrome is a genetic disorder characteried by short stature, typical facial features, developmental delay, and CHD. In this single-centre retrospective study, we analysed typical Noonan syndrome-related electrocardiographic features in 95 patients with clinically and molecularly confirmed Noonan syndrome. Typical Noonan syndrome-related electrocardiographic features are left axis deviation, small left precordial R-waves, large right precordial S-waves, abnormal Q-wave, and abnormal wide QRS complex. In this representative cohort, CHD was found in 59 patients (62.1%) and typical Noonan syndrome-related electrographic features in 60 patients (63.2%). The typical Noonan syndrome-related electrographic features were also increased over baseline in patients without CHD (41.7%). Of all 95 patients, left axis deviation was seen in 46.3%, small left precordial R-waves in 30.5%, large right precordial S-waves in 5.3%, and abnormal Q-wave and wide QRS complex in 2.1%. There was no significant difference in the frequency of the individual-specific electrographic features between the group with CHD and the group without CHD. However, there were significantly more patients with a small left precordial R-wave in the subgroup with pulmonary stenosis compared to patients without pulmonary stenosis. Conclusion: Specific Noonan syndrome-related electrographic features are frequently present in patients with Noonan syndrome, also in the absence of CHD. These results suggest that there may be a continuum of cardiac anomalies from overt CHD to milder abnormalities that are only seen on electrocardiogram. |
| Databáze: | OpenAIRE |
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