Tag Archives: congenital heart disease

Reclassifying Biliary Atresia -Three Subtypes

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Using a large prospective multicenter cohort (ChiLREN study group), a recent study examined 289 infants and identified three subtypes of biliary atresia (BA) enrolled in PROBE (Hepatology 2013; 58: 1724-31).

Previously, BA has been considered to have two presentations:

  • Acquired/nonsyndromic ~90%
  • Embryonic/syndromic ~10%

However, this study suggests the following:

  • Group 1 -nonsyndromic, isolated BA. n=242 (84%)
  • Group 2 -BA with major malformation but without laterality defect. n=17 (6%)
  • Group 3 -syndromic, with laterality defect. n=30 (10%)

Group 3 BA defects included splenic abnormalities (eg. asplenia, polysplenia, right-sided spleen), cardiovascular anomalies (eg. dextrocardia, TAPVR, interrupted IVC) and gastrointestinal anomalies (eg. “abdominal heterotaxy,” malrotation, annular pancreas).

In contrast, Group 2 BA had frequent genitourinary problems (cystic kidney and hydronephrosis) along with different cardiovascular anomalies and gastrointestinal anomalies which included esophageal/duodenal/jejunal atresia and imperforate anus.

Other points:

  • The frequency of cardiac problems is particularly important to recognize as this could make differentiation from Alagille syndrome more difficult.
  • One other interesting finding was the high incidence of autoimmunity in first-degree relatives of all BA groups (~44%).

Bottomline: there are at least 3 subtypes of BA.

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Neonatal cholestasis and Down syndrome

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A retrospective Swedish study adds some useful information on the incidence of neonatal cholestasis with Down syndrome (J Pediatr 2012; 161: 899-902).

In this retrospective study of all neonates born between January 2005-September 2011 in Stockholm , a total of 206 newborns were identified as having Down syndrome.  This represents an incidence of 1 in 880 newborns.

  • 3.9% (n=8) had cholestasis
  • 47% (n=96) had congenital heart disease
  • 11.2% (n=23) had GI disorders: duodenal stenosis (n=7), duodenal atresia (n=4), omphalocele (n=3), Hirschsprung disease (n=2), esophageal atresia/duodenal atresia (n=1), jejunal atresia (n=1), and other conditions (n=5)
  • 3.4% (n=7) had bone marrow diseases including transient abnormal myelopoiesis

All eight children with cholestasis had congenital heart disease.  However, severe cholestasis was only seen in the 3 patients with concomitant bone marrow disease. Two of these patients died and one developed cirrhosis/chronic liver disease. All cholestatic patients had involvement of other organ systems.  As this was a retrospective study, some milder cases of neonatal cholestasis may not have been detected.

In children with concomitant bone marrow disease, neonatal cholestasis may forebode an increased risk for severe disease.  While all 3 of the newborns with severe disease also had congenital heart disease, most infants with combined congenital heart disease/cholestasis (n=5) did not have a severe case.

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