A review of isolated muscular ventricular septal defect
1Department of Pediatrics, Kindai University Nara Hospital, 1248-1, Otoda, Ikoma, Nara, 630-0293, Japan. toshimiyake7@gmail.com.
Insights
Isolated muscular ventricular septal defect (VSD) is common in infants, with most cases closing spontaneously by 12 months. Color Doppler echocardiography aids diagnosis, and VSD is not a severe risk factor for chromosomal abnormalities.
Area of Science:
- Pediatric Cardiology
- Neonatology
- Congenital Heart Disease
Background:
- Color Doppler echocardiography is crucial for diagnosing isolated muscular ventricular septal defects (VSDs) with small shunts.
- Understanding the natural history of VSDs is essential for appropriate clinical management.
Purpose of the Study:
- To review the diagnosis, frequency, and natural history of isolated muscular ventricular septal defects (VSDs) from fetal development through infancy.
Main Methods:
- Systematic review of original research articles from PubMed and Google Scholar.
- Inclusion of relevant studies focusing on muscular ventricular septal defects.
Main Results:
- Isolated muscular VSD occurs in 5.7% of preterm and 1.1-5.3% of term infants.
- Spontaneous closure is more frequent and earlier in muscular VSDs than perimembranous VSDs, with 80-90% closing by 12 months.
- While midventricular muscular VSDs close faster short-term, long-term closure rates show no site difference. Chromosomal microarray analysis indicates VSD is not a severe risk factor for chromosomal abnormalities.
Conclusions:
- This review synthesizes current knowledge on the diagnosis, frequency, and natural history of isolated muscular VSD.
- Further research is needed on the spontaneous closure of fetal isolated muscular VSDs.
Background:
Color Doppler echocardiography greatly facilitates the diagnosis of isolated muscular ventricular septal defect with a small shunt.
Data Sources:
Original research articles were collected from database, including PubMed and Google scholar. Relevant articles about muscular ventricular septal defect were included.
Results:
The frequency of isolated muscular ventricular septal defect is 5.7% in preterm infants and 1.1-5.3% in term infants. Spontaneous closure in muscular ventricular septal defect occurs with higher frequency and earlier than in perimembranous ventricular septal defect. Approximately 80-90% of isolated muscular ventricular septal defect closes spontaneously by 12 months of age. Midventricular muscular ventricular septal defect is spontaneously closed earlier in the short term, but no site difference is found in the long term. The spontaneous closure mechanism is regarded as aposition of the muscle tissue or fibrous tissue formation in the right ventricular side, but in rare cases involves aneurysm formation of the fibrous tissue. Regarding spontaneous closure of isolated muscular ventricular septal defect diagnosed for the fetus, further studies are needed. Chromosomal microarray analysis of fetuses with isolated muscular ventricular septal defect has revealed that it is not a severe risk factor of chromosomal abnormalities.
Conclusions:
This paper presents a review of the history of the diagnosis and frequency of ventricular septal defect, with discussion of its natural history from the fetal period to after birth in patients with isolated muscular ventricular septal defect.
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