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Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis
S M Balderston1, E M Shaffer, R L Washington
1Division of Pediatric Cardiology, Children's Hospital, Denver, Colorado 80218-1088.
Insights
Congenital polyvalvular disease is highly prevalent in trisomy 18 patients, often accompanying common heart defects like ventricular septal defects. This finding may aid in diagnosing trisomy 18 in infants with suggestive features.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Medical Diagnostics
Background:
- Congenital heart disease (CHD) affects over 90% of trisomy 18 cases, commonly presenting as ventricular septal defects and patent ductus arteriosus.
- Congenital polyvalvular disease has been observed in trisomy 18 through pathological examination.
Purpose of the Study:
- To assess the frequency of congenital polyvalvular disease in living trisomy 18 patients using echocardiography.
- To evaluate if polyvalvular disease can serve as a specific diagnostic marker for trisomy 18.
Main Methods:
- Echocardiograms were performed on 15 infants with trisomy 18 and 12 infants with dysmorphic features but normal chromosomes.
- Cardiac structural defects and the extent of polyvalvular disease were documented for all participants.
Main Results:
- All 15 trisomy 18 patients exhibited structural cardiac defects, and all also had congenital polyvalvular disease (2-4 affected valves).
- In the control group, only two infants had a single abnormal valve; common structural defects included patent ductus arteriosus and ventricular septal defect.
Conclusions:
- While structural cardiac lesions are common in infants with features suggestive of trisomy 18, they are not specific.
- Congenital polyvalvular disease appears to be a more specific finding in trisomy 18 and may assist in diagnosis pending chromosomal analysis.
Abstract:
Congenital heart disease is known to occur in greater than 90% of patients with trisomy 18, with ventricular septal defect and patent ductus arteriosus being the most frequently encountered lesions. The presence of congenital polyvalvular disease in trisomy 18 as assessed by pathological specimens has also been noted. Echocardiograms were obtained in 15 patients with trisomy 18 and in 12 infants with dysmorphic features, who did not have chromosomal abnormalities, in order to obtain an echocardiographic assessment of the frequency of polyvalvular disease in living patients with trisomy 18. In this series all patients with trisomy 18 had structural defects (seven ventricular septal defects, three patent ductus arteriosus, five both). All trisomy 18 patients also had congenital polyvalvular disease with six patients having four affected valves, five patients having three affected valves, and four patients with two affected valves. In patients with normal chromosomes, two had a single abnormal valve, and structural lesions included patent ductus arteriosus (3), ventricular septal defect (2), pulmonary atresia with ventricular septal defect (1), transposition of the great arteries (1), and atrioventricular canal with patent ductus arteriosus and coarctation (1). In infants with features suggestive of trisomy 18, structural cardiac lesions are a nonspecific finding. However, the presence of polyvalvular disease may be a more specific and useful adjunct to other clinical investigations pending chromosomal analysis for definitive diagnosis.