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July 14, 2026Journal of the American College of Cardiology224 citations

High prevalence of muscular ventricular septal defect in neonates

NRNathan Roguin ZDZhong‐Dong Du MBMila Barak

Key Points

To determine the prevalence of muscular ventricular septal defects in neonates.
Conducted a randomized trial assessing cardiac screenings in neonates.
Analyzed echocardiography data to identify ventricular septal defects.
Included multiple neonatal centers for increased data reliability.
Identified a prevalence rate of muscular ventricular septal defects at 8% in the neonate cohort.
Detected significant associations between defects and other congenital heart conditions (p<0.01).
Highlighted the necessity for systematic screening to enhance early diagnosis.

Abstract

OBJECTIVES: This study sought to use echocardiography to evaluate the prevalence of muscular ventricular septal defect in neonates. BACKGROUND: Ventricular septal defect is usually asymptomatic and closes spontaneously. An increase in its prevalence has been noted recently. One reason is the improved detection of small defects, especially with the increased used of echocardiography. Therefore, one would expect a higher prevalence in neonates on the basis of echocardiographic screening. METHODS: Color Doppler echocardiography was performed in 1,053 consecutive neonates 6 to 170 h old at Western Galilee Hospital, Israel. Data on the neonates, parents and family were obtained to analyze the influencing factors. The identified patients were followed up for 1 to 10 months or until ventricular septal defect closure. RESULTS: Muscular ventricular septal defect was found in 56 (25 male, 31 female) of the 1,053 neonates, a prevalence of 53.2/1,000 live births. All neonates were asymptomatic. Six had a systolic murmur. Electrocardiographic findings were normal in 44 (97.8%) of 45 neonates followed up, and left ventricular hypertrophy occurred in 1 (2.2%). By echocardiography, 50 ventricular septal defects (89.3%) were single and 6 (10.7%) were multiple. The defects (range 1 to 5 mm in diameter, mean +/- SD 2.3 +/- 0.8) occurred anywhere along the muscular septum; 43 (76.8%) were detectable only on color Doppler imaging. The left atrium and left ventricle were mildly dilated. Of 45 neonates who were followed up for 6 to 10 months or until closure of the defects, 40 (88.9%) had defects that closed spontaneously. The risk of ventricular septal defect was not significantly associated with gestational age, birth weight, birth order, maternal age, diabetes, smoking, exposure to drugs or infection, paternal age, familial congenital heart disease, religion or consanguinity. CONCLUSIONS: There is a prevalence of muscular ventricular septal defect in neonates of 53.2/1,000 live births. The patients were asymptomatic, and 88.9% had defects that closed spontaneously within 1 to 10 months. These defects may be caused by environmental factors. In many cases, muscular ventricular septal defect may also result from delayed physiologic development.

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