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Atrioventricular canal defect without Down syndrome: a heterogeneous malformation
M C Digilio1, B Marino, A Toscano
1Department of Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy.
American Journal of Medical Genetics
|July 16, 1999
Summary
Atrioventricular canal defects (AVCD) often occur with other conditions, even without Down syndrome. This study found specific genetic syndromes and cardiac anomalies are linked to distinct AVCD subtypes.
Area of Science:
- Cardiology
- Medical Genetics
- Pediatrics
Background:
- Atrioventricular canal defect (AVCD) is a congenital heart defect frequently linked with extracardiac anomalies.
- While associations with Down syndrome and heterotaxy are well-studied, less is known about genetic syndromes and cardiac malformations in AVCD patients without Down syndrome and with situs solitus.
Purpose of the Study:
- To review genetic and cardiologic characteristics of patients with non-Down AVCD and situs solitus.
- To analyze the prevalence of genetic syndromes and additional cardiac malformations in this specific patient group.
Main Methods:
- Literature review of genetic and cardiologic features in non-Down AVCD with situs solitus.
- Analysis of a series of 203 consecutive patients with AVCD and situs solitus.
Main Results:
- 65% of patients had non-syndromic AVCD, while 35% had non-Down syndromic AVCD.
- Chromosomal imbalances (3%), Mendelian syndromes (22%), and non-syndromic extracardiac anomalies (10%) were identified.
- Complete AVCD was more common in chromosomal imbalances and associated with left-sided obstructive lesions; syndromic patients had more additional cardiac anomalies.
Conclusions:
- AVCD exhibits significant variability in anatomy and causes, even in patients without Down syndrome or heterotaxy.
- Specific genetic conditions are associated with distinct anatomical subtypes of AVCD.