Cardiovascular Journal of Africa: Vol 27 No 1 (January/February 2016)

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CARDIOVASCULAR JOURNAL OF AFRICA • Volume 27, No 1, January/February 2016 AFRICA 45
Case Reports
A rare case of heterotaxy and left ventricular non-compaction
in an adult
A Chacko, L Scholtz, S Vedajallam, C van Wyk
Abstract
Heterotaxy syndrome with left ventricular non-compaction is
a rare co-existence of abnormalities with unknown cause. It
can be isolated with no other associations, or associated with
congenital heart diseases, or it can occur with multiple other
congenital abnormalities. We describe the third reported case
of heterotaxy syndrome with left ventricular non-compaction
presenting in an adult.
Keywords: heterotaxy, dextrocardia, left ventricular non-compac-
tion, LVNC, polysplenia, situs ambiguous, left isomerism
Submitted 29/7/14, accepted 11/8/15
Published online 31/8/15
Cardiovasc J Afr 2016; 27: 45–48
DOI: 10.5830/CVJA-2015-063
Heterotaxy, also known as situs ambiguous, is defined as the
abnormal and disorganised arrangement of organs and vessels
within the abdominal cavity. This is in contrast to the orderly
arrangement that occurs in situs inversus or situs solitus.
The two major subcategories of situs ambiguous are situs
ambiguous with polysplenia, and situs ambiguous with asplenia.
Situs ambiguous with polysplenia, (which is also known as left
isomerism or bilateral left-sidedness) is generally characterised
by a midline position of the abdominal organs and multiple
spleens/splenules.
Left ventricular non-compaction is a rare congenital
abnormality of the heart with unknown cause. It can be isolated
with no other associations, or associated with congenital heart
diseases, or it can occur in conjunction with multiple other
congenital abnormalities. The entity characteristically exhibits
prominent and excessive trabeculae in the left ventricular wall
segment, with the deep inter-trabecular recesses being perfused
from the cavity.
Genetic causes associated with multiple gene mutations have
been implicated in causing the arrest of normal embryogenesis
within the endocardium and myocardium.1 Common clinical
presentations include cardiac failure and tachyarrhythmia, as
well as thromboembolic events. Associations with other cardiac
and extra-cardiac abnormalities have been described.
We describe the third reported case of dextrocardia with left
ventricular non-compaction, situs ambiguous with an interrupted
inferior vena cava, and polysplenia presenting in an adult.
Case report
A 47-year-old male patient presented to the cardiologist with a
history of chronic atrial fibrillation and known dextrocardia on
chest radiography. The main presenting symptom was dyspnoea
on exertion. The patient was a smoker and had a history of high
alcohol intake. On examination he was noted to be normotensive
and with a normal resting heart rate with atrial fibrillation. Lung
function tests showed a mild obstructive airways disease pattern.
Echocardiography confirmed the dextrocardia with
hypertrophy, and possibly increased trabeculations were noted
in the left ventricular wall. The ejection fraction was 50%, with a
mildly enlarged left atrium and a normal-calibre left ventricular
cavity.
On abdominal ultrasound, the liver was observed to be midline
with extension into the left hypochondrium, and the patient was
noted to have polysplenia with multiple splenules located in the
right hypochondrium. The ultrasound also confirmed an absent
inferior vena cava.
The patient’s blood work showed no abnormalities, with
normal liver and renal function profile. Electrocardiography
performed with a stress component showed no ischaemia and
confirmed atrial fibrillation with no heart block.
Cardiac magnetic resonance (CMR) imaging was performed
to further evaluate cardiac and great vessel structure and
function (Fig. 1). Dextrocardia, heterotaxy, left isomerism and
left ventricular non-compaction were confirmed on the CMR
and subsequent computed tomography (CT) (Figs 2, 3).
Discussion
Dextrocardia is a cardiac positional anomaly in which the heart
is located in the right hemithorax, with its base-to-apex axis
Department of Radiology, Steve Biko Academic Hospital,
University of Pretoria, Pretoria, South Africa
A Chacko, MB BCh, FCRad (SA),
Scholtz & Partners, Diagnostic Radiologists, Pretoria,
South Africa
L Scholtz,MB ChB, MMed (Rad Diag) (Pret)
Frere Hospital, East London, South Africa
S Vedajallam, MB ChB, FCRad (SA)
Cardiologist in Private Practice, Zuid-Afrikaans Hospital,
Pretoria, South Africa
C van Wyk, MB ChB, MMed (Rad Diag) (Pret)