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Cardiac findings in pediatric patients with spinal muscular atrophy types 2 and 3
Stefan A Djordjevic1, Vedrana Milic-Rasic2, Vesna Brankovic2
1Department of Cardiology, University Children's Hospital, Belgrade, Serbia.
Insights
Cardiac evaluation in pediatric patients with milder spinal muscular atrophy (SMA) types 2 and 3 revealed a low prevalence of heart disease. However, some children exhibited elevated resting heart rates, suggesting the need for careful cardiac monitoring.
Area of Science:
- Pediatric Cardiology
- Neuromuscular Disorders
- Genetics
Background:
- Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder.
- The cardiac impact of milder SMA forms (types 2 and 3) in children is not well-defined.
- This study investigates cardiac abnormalities in pediatric patients with SMA types 2 and 3.
Purpose of the Study:
- To determine the prevalence of cardiac abnormalities in pediatric patients with SMA types 2 and 3.
- To assess cardiac function and identify potential cardiac involvement in milder SMA forms.
- To provide insights into cardiac monitoring strategies for these patients.
Main Methods:
- A cross-sectional study involving 42 pediatric patients with SMA types 2 and 3.
- Comprehensive cardiac evaluation including history, physical exam, ECG, echocardiography, cardiac biomarkers (cTnT, NT-proBNP), and 24-hour Holter monitoring.
- Data collected between July 2018 and July 2019.
Main Results:
- No significant structural heart disease or ventricular dysfunction was found in most patients.
- Cardiac biomarkers (cTnT, NT-proBNP) were normal in all participants.
- Sinus tachycardia, prolonged P-R interval, and benign arrhythmias were observed in a minority of patients.
- Elevated mean 24-hour heart rates were noted in 14.3% of patients.
Conclusions:
- The prevalence of overt cardiac disease is low in pediatric patients with SMA types 2 and 3.
- Increased resting heart rates may be present in some individuals.
- A thorough cardiac history and physical examination are recommended screening tools.
- Further cardiac investigations should be considered on a case-by-case basis.
Background:
It is unclear whether the heart is affected in pediatric patients with milder forms of spinal muscular atrophy (SMA). Therefore, we aimed to determine the presence of any cardiac abnormalities in these patients.
Methods:
We conducted a cross-sectional study of children and adolescents with SMA types 2 and 3 between July 2018 and July 2019. All patients underwent a comprehensive cardiac evaluation, including history-taking, physical examination, electrocardiography, echocardiography, measurement of cardiac biomarkers (cardiac troponin T [cTnT] and N-terminal pro-brain natriuretic peptide [NT-proBNP]), and 24-hour Holter monitoring.
Results:
In total, 42 patients were enrolled (27 and 15 with SMA type 2 and 3, respectively). No patient had structural heart disease, except for one with mitral valve prolapse. None had signs of ventricular dysfunction on echocardiography. Both cTnT and NT-proBNP levels were normal in all patients. Electrocardiography showed sinus tachycardia in seven patients (16.7%), and prolonged P-R interval in one (2.4%). Holter monitoring detected benign ventricular arrhythmias in two patients (4.8%), and rare supraventricular premature beats in one. The mean 24-hour heart rate was elevated in six patients (14.3%), whereas both the minimum 24-hour heart rate and the maximum R-R interval were increased in 23 (54.8%).
Discussion:
The prevalence of cardiac disease in pediatric patients with SMA types 2 and 3 is low; however, these patients may have increased resting heart rates. A complete cardiac history and physical examination are a useful screen. Additional cardiac investigations may be performed as needed.
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