International Journal of Clinical Case Reports 2015, Vol.5, No. 41, 1-5
3
sudden deterioration in the baby’s condition was
presumed to multiple factors such as prematurity,
sepsis, complex congenital heart disease and heterotaxy
syndrome.
Discussion
In the daily paediatric clinic there are many newborns
and children seen with a congenital heart disease
(CHD). CHD has a prevalence of 8 per 1 000 live
births and the mortality increases with the complexity
of the underlying structural cardiac anomaly (Stumpflen
et al., 1996). Also many of these cardiac diseases are
also associated with structural anomalies related to the
respiratory, gastrointestinal, renal and other systems.
Heterotaxy 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; Bowers et al.,
1996). The word heterotaxy has origin from the Greek
literature: heteros-implies other than, and taxis-
denotes arrangement. Heterotaxy syndrome (HTS) is
the constellation of abnormalities in the position and
morphology of the thoraco abdominal viscera that
usually do not follow the normal positioning order of
organs laterality (
situs
solitus
) or its mirror image
(
situs inversus
) (Jacobs et al., 2007; Sutherland and
Ware, 2009; Bowers et al., 1996). The case presented
is a HTS in a preterm newborn and is very rare as was
seen in the literature (Bowers et al., 1996; Lee et al.,
2006; Jacobs et al., 2007; Sutherland and Ware, 2009).
HTS results as a result of early embryological
developmental disturbance and genetic abnormalities.
Sporadic cases are seen. 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;
Sutherland and Ware, 2009). The case presented was a
male baby. HTS can exists in two forms, ie the right
isomerism (RI) and left isomerism (LI) (Bowers et al.,
1996; Lee et al., 2006; Jacobs et al., 2007; Sutherland
and Ware, 2009). Cyanotic CHD is an important
presentation in right isomerism and so they are
recognised early in infancy. HTS with left isomerism
presents later in childhood or even in adulthood as it is
less associated with complex CHD. Literature review
has shown that Asian population has an increased
prevalence of HTS than in the West (Kim et al., 2008).
Chromosomal anomalies and single etiological factor
for the causation of HTS are under study in various
population (Bowers et al., 1996; Lee et al., 2006).
20-25% of HTS are are associated with the immotile
cilia syndrome (including Kartagener syndrome).
There are reports of families having several members
with HTS and the etiology remains unclear (Cesko et
al., 1998). The case reported did not have any
significant dysmorphism and had complex CHD of the
LI.
The clinical presentation is dependent on severity of
the isomerism and presence of associated abnormalities
(Ticho et al., 2000; Jacobs et al., 2007; Sutherland and
Ware, 2009). HT has been well known to alter the
development of the heart, liver, lungs, intestines, and
spleen. LI is a situation in which paired structures on
opposite sides of the left-right axis of the human body
are symmetrical mirror images of each other, and tend
to have the morphology of the normal left-sided
viscerae (Jacobs et al., 2007; Sutherland and Ware,
2009). LI is also known as polysplenia syndrome.
There are occurrence of multiple
without a
spleen. Anomalies such as azygos or hemiazygos
continuation of the inferior vena cava are seen. The
bronchial anatomy can reflect the atrial situs. The
bronchial anatomy on the left and right can be
recognised on a well penetrated radiograph and
consists of two main bronchi that are anatomically
different: hyparterial bronchus (below artery): supplies
the bi-lobed left lung and eparterial bronchus (along
side the artery): supplies the tri-lobed right lung
(Jacobs et al., 2007; Kim SJ et al 2008; Sutherland
and Ware, 2009) . In the LI theres is also associated
bilateral
long bronchi, bilateral bilobed
lungs and bilateral pulmonary
appendages.
Isomeric left appendages in some patients have
pulmonary veins connecting to both the atriae as if
both atriums were morphologically left atriums. Other
associations are midline/transverse liver along with an
intestinal malrotation. The case presented had features
with LI with duodenal atresia. RI is a situation when
there is occurrence of some paired structures on
opposite sides of the left-right axis of the body that are
symmetrical mirror images of each other, and have a
morphology of the normal right-sided structures. RI is
also known as asplenia syndrome.It is characterised
by severe cyanotic congenital heat diseases with the
absence of spleen. They frequently have bilateral
bilateral trilobed lungs, each with a
short bronchus. Patients with a RI have without any
