Elsevier

Early Human Development

Volume 103, December 2016, Pages 43-47
Early Human Development

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study

https://doi.org/10.1016/j.earlhumdev.2016.07.005Get rights and content

Highlights

  • Single-centre large population study of neonates with strict non-syndromic gastro-intestinal malformations (GISM).

  • Prevalence of congenital heart disease (CHD) in patient group 15.5%, but higher than expected also in control group.

  • Fetal shunts/hypertrophic cardiomyopathies can lead during postoperative course to significant cardiac dysfunction.

  • Independently from intensive care admission, there is a reduced heart rate variability linked to intestinal disease.

  • Early detection of functional cardiac diseases could improve perioperative management and complication surveillance.

Abstract

Background

Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications.

Methods

Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified.

Results

Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality.

Conclusions

The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis.

Section snippets

Background

Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may be found in 1.8 per 1000 live births [1], [2]. In the gastrointestinal tract we can observe a variety of congenital defects because of the interference of genetic/environmental factors on splanchnic mesoderm differentiation during blastogenesis or successive phases of the development of primitive gut tube, including elongation, herniation outside the abdominal cavity, rotation, fixation, and neuronal migration [3]

Materials and methods

A retrospective chart review in a Neonatal Intensive Care Unit (NICU) with reference Centre for genetics and paediatric surgery was performed. All newborns who required surgery for GISM between 2009 and 2014 were recruited. GISM were divided based on International Classification of Diseases (ICD-10) into EA, pyloric atresia, duodenal atresia/stenosis, jejunal-ileal atresia/stenosis, colon atresia/stenosis, disorders of intestinal rotation and fixation, intestinal duplication, ARM, abdominal

Results

Isolated GISM was found in 65.8% (71/108) of evaluated newborns (group A). Male newborns resulted more affected by GISM than females (49 vs 22). Mean Apgar scores were 7 and 9 at 1 and 5 min, respectively. The mean gestational age was 37+ 1 weeks (range from 25+ 2 to 41+ 3 weeks), and mean birth weight was 2660 g (range from 700 to 4130 g). Eighteen newborns in group A versus two in group B were small for gestational age (25.4 vs 2.8%; p = 0.0001) (details in Table 1). Genetic counselling and karyotype

Discussion

The paucity of available data does not allow to distinguish adequately the genetic and/or environmental factors causing intestinal malformations [28]. The complex morphogenetic intestinal process requires the function of numerous regulatory and structural genes. For instance, the fibroblast growth factor 10 (Fgf10) and its receptor Fgfr2b play a role in the complex mesenchymal-epithelial cell interactions that result in embryologic morphogenesis of gastrointestinal tract [29]. The same factors

Conclusions

The association of CHD and GISM has been demonstrated by several studies in patients with multiple malformations of other systems. Instead, few studies have analyzed the incidence of CHD in apparently isolated GISM and the related complications. Our study has proven that a significant number of newborns with isolated GISM also present CHD. Furthermore, a pre-operatory functional heart disease will condition the postoperative outcome. Once identified the risk factors (central venosus catheter,

Conflict of interest

None

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