Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD

Abstract

<i>Background </i>Trisomy 18 syndrome, the second most common autosomal numerical chromosomal disorder, is associated with multiple-organ abnormalities. Cardiovascular malformations are just one of those affecting prenatal and postnatal life expectancy. In general, the type and scope of treatment are still controversial and are handled very differently. Palliative care usually focuses on improving quality of life or life-threatening conditions. <i>Objective</i> Based on parental treatment preferences for their child, we report the anticongestive drug treatment and consecutive transcatheter therapy of cardiac shunt lesions in a girl with trisomy 18 who was born small-for-date. <i>Methods </i>Anticongestive drug treatment was switched form diuretic-directed drug treatment to our standard care for chronic heart failure in infants, which consists of a ß1-specific beta-blocker (bisoprolol) in combination with an ACE-inhibitor (lisinopril) and a low-dose mineralocorticoid-blocker (spironolactone). In addition, the strategy and technique of semi-invasive transcatheter treatment of significant cardiovascular shunt lesions is reported. At 3 months of age and weighing 2.4kg, a significant arterial duct was first occluded percutaneously with an MVP-5Q device, followed by transcatheter closure of a slightly misaligned perimembranous VSD six weeks later. Both interventions were performed on a spontaneously breathing only sedated baby. <i>Results </i>The device strategy for treating the hemodynamically significant cardiovascular shunt lesions was technically feasible and effective in combination with medication. However, the medium- or long-term outcome cannot be defined due to the limitations caused by the syndrome. <i>Conclusion</i> As part of a medical risk-benefit assessment, the parents should make the decision as to whether their child should be treated or not; the responsible physicians have individually to offer the best treatment option.