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Case Report

Congenital Cardiac Defects in Trisomy 18: A Case Series

Dr. Bibhas Kar , Ronak Sheth 1 , Kothandam Sivakumar 2 , Bibhas Kar 3

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Indian Journal of Genetics and Molecular Research 8(1):p 41-45, January-June 2019. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.8119.6

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Ronak Sheth, Kothandam Sivakumar, Bibhas Kar. Congenital Cardiac Defects in Trisomy 18: A Case Series. Indian J Genet Mol Res. 2019;8(1):41-45

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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.

 

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Ronak Sheth, Kothandam Sivakumar, Bibhas Kar. Congenital Cardiac Defects in Trisomy 18: A Case Series. Indian J Genet Mol Res. 2019;8(1):41-45

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DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.8119.6

Keywords

Trisomy 18; Edwards syndrome; Congenital cardiac defects

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