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Discrete sub-aortic stenosis and ventricular septal defect
Insights
Diagnosing discrete sub-aortic stenosis and ventricular septal defect in children requires high clinical suspicion and echocardiography. This dangerous combination is best identified using echocardiography, especially when physical signs are misleading.
Area of Science:
- Pediatric Cardiology
- Congenital Heart Disease
- Diagnostic Imaging
Background:
- Discrete sub-aortic stenosis (DSS) and ventricular septal defect (VSD) is a dangerous combination in children.
- Clinical presentation can be subtle, with physical signs often masked by the VSD.
Purpose of the Study:
- To highlight the diagnostic challenges of coexisting DSS and VSD in pediatric patients.
- To emphasize the role of echocardiography in accurately diagnosing this complex congenital heart defect.
Main Methods:
- Retrospective review of 15 pediatric patients diagnosed with DSS and VSD.
- Analysis of clinical findings, electrocardiography (ECG), cardiac catheterization, angiography, and echocardiography data.
Main Results:
- Only one patient had auscultatory evidence of sub-aortic stenosis; all had VSD signs.
- ECG showed left ventricular hypertrophy in eight patients.
- Echocardiography accurately identified both DSS and VSD in all available cases, outperforming cardiac catheterization for DSS detection.
Conclusions:
- A high index of clinical suspicion is crucial for diagnosing DSS and VSD in children.
- Echocardiography is the gold standard for diagnosing this combined cardiac anomaly.
- Early and accurate diagnosis via echocardiography is vital for timely intervention.
Abstract:
We present details of 15 children, aged 3 months to 11 years, with discrete sub-aortic stenosis and ventricular septal defect. We emphasise a high index of clinical suspicion and echocardiography as the best means of diagnosing this dangerous combination. Physical signs were those of ventricular septal defect in all patients, with auscultatory evidence of additional sub-aortic stenosis in only one. Five patients had a short early diastolic murmur of mild aortic incompetence. The electrocardiograph showed isolated left ventricular hypertrophy in eight patients. Cardiac catheterisation and angiography identified the ventricular septal defect in all cases but detected the sub-aortic stenosis in only eight. Cross sectional echocardiography showed both lesions in all 11 patients to whom it was available.