Repair of Complete Atrioventricular Septal Defect in Infants with Down Syndrome: Outcomes and Long-Term Results

Abstract

In clinical practice, the combination of congenital heart disease (CHD) with malformations of other organs occurs in about 10 % of cases, including chromosomal disease with heart defects, which are observed mainly with certain syndromes. In the Bakoulev SCCS (Moscow, Russian Federation), from 01.2005 to 01.2011, complete atrioventricular septal defect (CAVSD) repair was performed on 163 patients (5.6 ± 3.0 months) with Down Syndrome (DS) using the single-patch (n = 40) and the two-patch (n = 123) methods. The control group consisted of 214 infants aged 6.49 ± 3.03 months with CAVSD and normal karyotype. A retrospective cohort study was made, as well as a comparative analysis of the immediate (up to 30 days) and long-term (12-75 months, at the average of 56 ± 15) results of the repair of CAVSD in infants with DSand normal karyotype/chromosome set (NK). During the hospital treatment period, we registered the following complications: pulmonary hypertensive crises in 6 % (n = 9) of patients with DS and in 10 % (n = 21) of infants with NK, infectious complications in 21% (n = 34) of patients with DS and in 8% (n = 17) of infants with NK. Squeal structures in groups were differentiated. The doses and duration of cardiotonic support in the NK patients were significantly higher in comparison with the DS patients (7.5 ± 2.1 days vs 3.4 ± 1.15 days, p < 0.05). Respiratory infections on the background of immunodeficiency were found more often in the DS group (21% in DS vs 8% in NK, p < 0.05), demanding higher postoperative pulmonary ventilation time in DS patients in comparison with normal infants was required (DS 5.1 ± 2.8 days vs NK 1.7 ± 0.8 days, p < 0.05). In DS infants, abnormalities of the left AV valve (doubling of the mitral valve, single papillary muscle, closely spaced groups of papillary muscles, leaflet or chordal dysplasia, hypoplastic valve ring) occur as statistically significant (8% DS vs 12% NK; p < 0.05) which is rarer than in children having the same defect, but without Down syndrome. Concerning the long-term results, there was no significant difference (Gehan-Wilcoxon test) in actuarial freedom from reoperation after repair of CAVSD between DS and NK groups (p < 0.13). However, the presence of Down Syndrome in patients significantly increases the risk of severe co-morbidities that have a significant impact on the recovery period, as well as on life expectancy even after successful CHD correction.

Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes

“…Early surgical studies reported worse surgical outcomes in patients with Down syndrome undergoing repair for complete atrioventricular septal defect compared with patients without genetic syndromes . More recently, several studies have demonstrated equal or decreased risk of in‐hospital mortality for patients with Down syndrome undergoing repair of CHD (including complete atrioventricular septal defect) compared with patients with normal karyotypes except among patients with single ventricle physiology . Several studies that included long‐term outcomes for complete atrioventricular septal defect repair have demonstrated a decreased rate of reoperation for left atrioventricular valve repair and for subaortic stenosis in patients with Down syndrome, which is likely related to valve and left ventricular outflow tract morphology differences …”

Cardiopatia Congénita em Crianças com Síndrome de Down: O que Mudou nas Últimas Três Décadas?

“…Os doentes com SD apresentam no pós-operatório frequentemente maior morbilidade dos que doentes com as mesmas lesões mas sem SD, 11,19 com maior taxa de complicações não cardíacas. De todas, as respiratórias estão descritas como sendo as mais frequentes, como o maior tempo de ventilação ou pneumotórax.…”

“…De todas, as respiratórias estão descritas como sendo as mais frequentes, como o maior tempo de ventilação ou pneumotórax. 7,11,19 Este facto pode dever-se por um lado à maior taxa de obstrução crónica da via aérea, maior quantidade de secreções brônquicas e síndrome aspirativo crónico no contexto de refluxo gastroesofágico. 7 O nosso estudo corroborou esta maior prevalência de complicações respiratórias (25%), seguidas das complicações infeciosas (18%).…”

“…Esta constatação é sobreponível ao descrito noutros estudos. 7,11,19 As complicações cardíacas foram mais raras do que as complicações não cardíacas (17,6% dos doentes), não se verificando associação estatística entre si. Dentro das primeiras, as alterações de ritmo e o baixo débito cardíaco foram as mais frequentes, ocorrendo cada um destes tipos em 7% dos doentes.…”

El niño con Síndrome de Down en la Unidad de Cuidados Intensivos

“…Esta temática se encuentra fuera del objetivo de esta actualización, no obstante, el lector puede encontrar revisiones sobre esta materia 9,36,37 .…”