International Journal of Clinical Case Reports 2015, Vol.5, No. 41, 1-5
1
Research Report Open Access
Heterotaxy Syndrome in A Preterm Baby-A Rare Case Report with Review of
Literature
Sunilkumar M.N. , Parvathy V.K.
Department of Pediatrics, Amala Institute of Medical Sciences, Amala Nagar, Thrissur-680 555, Kerala, India
Corresponding author email
International Journal of Clinical Case Reports, 2015, Vol.5, No.41 doi: 10.5376/ijccr.2015.05.0041
Received: 26 Apr., 2015
Accepted: 17 Jun., 2015
Published: 10 Oct., 2015
Copyright
©
2015 Sunilkumar M.N. and Parvathy V.K., This is an open access article published under the terms of the Creative Commons Attribution License,
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Preferred citation for this article:
Sunilkumar M.N. and Parvathy V.K., 2015, Heterotaxy Syndrome in A Preterm Baby-A Rare Case Report with Review of Literature, International Journal of
Clinical Case Reports, 5(41) 1
-
5 (doi
Abstract
Heterotaxy syndrome (HTS) is an abnormality where the internal thoraco-abdominal organs are arranged abnormally
across the left-right axis of the body.
Literature review has reported that it is a very rare condition and has complex cardiac and
extracardiac manifestations which requires
early surgical intervention. A very rare case report of HTS in a preterm newborn with an
associated duodenal atresia is presented with a review of literature.
Keywords
Heterotaxy; Heterotaxy syndrome; Complex cardiac abnormalities; Duodenal atresia; Palliative surgery
Introduction
Heterotaxy (HT) is a rare condition in dysmorphology
when there is abnormal arrangement of thoracic and
abdominal organs across the left-right axis (Jacobs et
al., 2007; Sutherland and Ware, 2009). Heterotaxy
syndrome (HTS) (from the Greek
heteros
– different
and
taxis
– arrangement) is the constellation of
abnormalities in the position and morphology of the
thoraco abdominal viscera. These abnormalities usually
do not follow the normal positioning order of organs
laterality (
situs
solitus
) or its mirror image (
situs
inversus
) (Bowers et al., 1996; Jacobs et al., 2007;
Sutherland and Ware, 2009). HTS is also known as
cardiosplenic syndrome or situs ambiguous with right
and left isomerism. HTS includes the complex cardiac
lesions which are the main cause of severity and
mortality in these patients. HTS has an incidence of
1:10 000 births and there is a male predominance at a
ratio of 2:1 (Bowers et al., 1996; Lee et al., 2006). The
complex cardiac manifestations are seen in 50% to
100% of these children and patients with HTS
(Stumpflen et al., 1996). Extra cardiac manifestations
of HTS include abnormalities of the urinary system,
biliary tract and hepatic abnormalities along with
duodenal atresia and gastrointestinal malrotation
(Ticho et al., 2000).This case reports a case of HTS in
a preterm baby with duodenal atresia.
Case Report
A 7 day old male baby was seen at the outpatient
clinic. The birth history revealed that he was born to a
22 year old primi mother at 33 weeks gestation via
spontaneous vaginal delivery weighing 1.18 kg
elsewhere. The cause of premature delivery was
attributed to maternal illness- pregnancy induced
hypertension. His parents were of non-consanguineously
married. The antenatal ultrasonogram done revealed
that he had possibility of a complex congenital heart
disease and his parents were informed about it. The
parents belonged to middle class socio economic
family. The baby was given care at a local hospital
after the premature delivery and on day 1 was referred
to a higher centre for further management. He was
evaluated at a higher centre and an Echocardiogram
done revealed that he had complex congenital heart
disease, heterotaxy syndrome with left isomerism,
common atrium, common atrioventricular valve with
severe atrioventricular valvular regurgitation. Single
ventricle, side by side great arteries with unrestricted
pulmonary blood flow with interrupted inferior vena
cava. Electrocardiogram (ECG)done there reported as
right axis deviation with QRS axis 120 degree. As the
baby was stable hemodynamically the parents were
informed about follow up for the cardiac status. The
baby was also diagnosed to have duodenal atresia
when he developed abdominal distension and the
