1 aside from congenital heart disease these syndromes are associated with an array of extracardiac anomalies and neurodevelopmental abnormalities which add to the challenge of caring. Trisomy 13 t13 and trisomy 18 t18 are the most commonly occurring types of aneuploidy after trisomy 21 and are known to be associated with congenital heart defects in upwards of 85 of cases.
Extra fingers and or toes polydactyly.
Trisomy 13 heart defects. And or heart defects such as atrial or ventricular septal defects. A baby with trisomy 13 may have eyes set close together and an underdeveloped nose or nostrils and cleft lip or palate. This can occur either because each cell contains a full extra copy of chromosome 13 a disorder known as trisomy 13 or trisomy d or.
Background congenital heart disease is common in patients with trisomy 13 t13 and trisomy 18 t18 but offering cardiac surgery to these patients has been controversial. Long term survival and cause of death were obtained. Trisomy 13 is associated with severe intellectual disability and physical abnormalities in many parts of the body.
People with this condition often have congenital heart defects brain or spinal cord abnormalities very small or poorly developed eyes microphthalmia extra fingers and or toes polydactyly cleft lip or palate and decreased muscle tone hypotonia. Patau syndrome is a syndrome caused by a chromosomal abnormality in which some or all of the cells of the body contain extra genetic material from chromosome 13 the extra genetic material disrupts normal development causing multiple and complex organ defects. These are small holes in the membranes that separate the heart chambers.
Trisomy 13 t13 and 18 t18 are frequently up to 80 associated with multiple anomalies including congenital heart defects chds such as atrial or ventricular septal defect vsd patent ductus arteriosus atrioventricular septal defect tetralogy of fallot tof and others these lesions can be successfully repaired or palliated in the general population. Other birth defects of trisomy 13 include. A retrospective review of the pediatric cardiac care consortium pccc identified children with trisomy 13 or 18 with interventions for chd between 1982 and 2008.
We describe the landscape of surgical management across the united states perioperative risk factors and surgical outcomes in. Among infants with trisomy 18 61 were female 45 4 with heart defects. Atrial septal defect asd and ventricular septal defect vsd are common.
Comparisons may be useful for a differential diagnosis. A previous study from the. Among those with trisomy 13 53 were female 38 4 had heart defects 24 5 had orofacial anomalies and 11 2 had.
Symptoms of the following disorders may be similar to those of trisomy 13 syndrome. Pseudo trisomy 13 syndrome is a rare disorder characterized by holoprosencephaly. Some of these are more severe than others.
The purpose of this study is to report short and long term outcomes after congenital heart defect chd interventions in patients with trisomy 13 or 18. People with a patent ductus art. Around 80 of babies with trisomy 13 are born with some kind of heart defect.
Associated midline facial abnormalities.