Congenital Cardiac Defects in Trisomy 18: A Case Series
Journal Title: Indian Journal of Genetics and Molecular Research - Year 2019, Vol 8, Issue 1
Abstract
Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). Cardiac defects occur in 90% of them. The survival in Edwards syndrome has been uniformly poor with less than 10% patients surviving beyond one year. Traditionally, cardiac interventions and surgery were not pursued in view of the dismal outcomes. We present 3 cases of trisomy 18 seen at our institution over the past 3 years. The series represents the spectrum of cardiac malformations in trisomy 18; from complex cardiac defects like complete atrio-ventricular (AV) canal defect and Double outlet right ventricle with ventricular septal defect (DORV-VSD) which are only surgically repairable to a simple lesion like patent ductus arteriosus (PDA) which is amenable to transcatheter device closure. Along with supportive medical care, cardiac palliative or corrective interventions may have a role in keeping the child more comfortable and with a better quality of life even if for a short life span.
Authors and Affiliations
Ronak Sheth
Keywords
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- EP ID EP628269
- DOI 10.21088/ijgmr.2319.4782.8119.6
- Views 128
- Downloads 0
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