CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
AFRICA
197
Background:
The incidence of isomerism in children with congeni-
tal heart disease (CHD) is 2.3%. Due to its complexity, right isom-
erism (RI) remains one of the most challenging heart lesions with
a high mortality rate. RI often presents in association with severe
cardiac malformations, isomeric arrangement of the bronchi and
abnormalities of the abdominal organs. Frequently echocardiogra-
phy is sufficient for diagnosis, but in complex cases cardiac MRI is
complementary.
Case report:
A 10-day-old newborn was transferred with a diagnosis
of complex CHD after presenting in cardiogenic shock at another
hospital. Despite several echocardiographies the morphology of the
dominant ventricle had not been confirmed, and the exact anatomy
of the pulmonary veins and aortic arch was unclear. A cardiac MRI
confirmed RI with dextrocardia, unbalanced AVSD with a small
posterior left ventricle, DORV and a small anterior aorta, hypoplastic
right aortic arch with coarctation, supracardiac TAPVC draining via
a mildly obstructed vertical vein to a single LSVC with Qp:Qs of
2:1. In the setting of this unusual case of RI with obstructed TAPVD
in combination with left-sided outflow tract obstruction, the typical
postnatal management needed to be modified.
Several treatment options were discussed, including a Norwood
procedure with TAPVD correction and extended arch reconstruction.
Other possibilities entertained were primary heart transplantation
and compassionate care. The patient was listed for HTx, and a hybrid
procedure with PDA stenting and banding of the pulmonary branches
was performed. Pulmonary vein stenting was deferred to see how the
patient responded to the hybrid. Two weeks later, there was increased
pulmonary venous obstruction. By this time, the parents requested
switching to a palliative approach, declining any further intervention.
Conclusions:
While echocardiography is often able to provide a
detailed cardiac imaging, MRI is superior to identify arch anomalies,
the course of pulmonary veins and, in difficult cases, the ventricular
morphology.
881: EXOME SEQUENCING AS PART OF A STRATEGY
TO IDENTIFY IMPORTANT VARIANTS IN CONGENITAL
HEART DISEASE
David Winlaw
1,2
, Gillian Blue
1,2
, Gary Sholler
1, 2
1
Heart Centre for Children, The Children’s Hospital at Westmead,
Australia
2
Sydney Medical School, University of Sydney, Australia
Introduction:
Exome sequencing is emerging as a strategy to iden-
tify potentially causal variants in families with two or more members
affected by congenital heart disease. Lessons from this approach
will inform future efforts to investigate the genetic contribution to
sporadic forms of congenital heart disease, which constitute the
majority of cases.
Methods:
Commercial exome sequencing with screening-out
of common variants was performed using usual bio-informatics
approaches. Families with two or more affected individuals were
identified from our DNA bank. Permission for exome sequencing
was specifically sought.
Results:
The majority of potentially damaging variants identified
were in genes known as being relevant to cardiac development or
previously identified as being responsible for cardiac malformations
in humans or experimental mouse models. In a number of families,
potentially causal variants have been identified in known gene fami-
lies and pathways and are being modeled
in vitro
to assess functional
impact.
Conclusions:
Emerging sequencing technologies need to be paired
with powerful bio-informatics resources. Translational teams includ-
ing clinical geneticists and cardiac clinicians are required. Logical
extension of these approaches will support personally informative
genetic counselling as well as providing insights into cardiac devel-
opment.
885: CLINICAL IMPLICATION OF SERUM N-TERMINAL
PRO-HORMONE BRAIN NATRIURETIC PEPTIDE IN THE
PREDICTION OF OUTCOME IN PAEDIATRIC DILATED
CARDIOMYOPATHY
Gee Na Kim, Eun Hyun Cho, Ok Jung Lee, I Seok Kang, Jin Young
Song, June Huh
Department of Paediatrics, Sungkyunkwan University School of
Medicine, Seoul, Korea
Background:
Serum levels of N-terminal pro-hormone brain natriu-
retic peptide (NT-proBNP) are known to be related to cardiac func-
tion. This study aimed to investigate serial changes in NT-proBNP as
a prognostic factor for outcomes of paediatric dilated cardiomyopa-
thy (DCMP) in a single tertiary centre.
Methods:
Retrospective reviews included 69 DMCP patients who
were treated at Samsung Medical Centre from 2004 to 2011.
Echocardiographic measurements and NT-proBNP levels were seri-
ally analysed at the time of diagnosis, three months, six months, and
at the last follow up. They were classified into three groups according
to the last follow-up LV function: group I (
n
=
35) with left ventricu-
lar ejection fraction (LVEF)
>
55%, group II (
n
=
18) with LVEF
35–55%, and group III (
n
=
16) with LVEF
<
35% or mortality or
heart transplantation.
Results:
The median age at diagnosis was 30 months and median dura-
tion of follow up from diagnosis was 45 months. The causes of DCMP
were idiopathic (69.6%), myocarditis (10.1%), tachycardia (7.2%),
familial (1.4%), mitochondrial disease (7.2%), and anthracycline-
induced cardiomyopathy (4.3%). There was no significant difference
in NT-proBNP level between groups according to cause of DCMP.
NT-proBNP was correlated to LVDD and LVSD
z
-score, LVEF at
each point. Serial NT-proBNP levels showed statistically significant
differences between the three groups. The levels of NT-proBNP were
significantly higher in group III at three month, six month, and the
last follow up, except at diagnosis. The degree of improvement in
NT-proBNP level from diagnosis to any point was worse in group
III. On multivariate Cox analysis, the degree of improvement in
NT-proBNP level from diagnosis to six months (
p
=
0.040) was a
significant predictor of adverse outcome. Patients with the degree of
improvement from diagnosis to six months
<
76.7% were at increased
risk of severe LV dysfunction or cardiac death (
p
=
0.001).
Conclusions:
The degree of improvement in NT-proBNP level at six
month from diagnosis could predict adverse outcomes in paediatric
DCMP and could be used a guide for long-term treatment plan.
886: CHEST ULTRASOUND IN EVALUATION OF POSTOP-
ERATIVE LUNG OEDEMA IN CHILDRENWITH CONGENI-
TAL HEART DISEASE
Anu Yli-Peltola, Laura Martelius, Turkka Kirjavainen, Paula
Rautiainen, Sture Andersson, Olli Pitkänen
1
Children’s Hospital, University of Helsinki and Helsinki University,
Central Hospital, Sweden
Background:
Postoperative management of the patient with congen-
ital heart disease (CHD) is influenced by pulmonary complications,
such as lung oedema (LE), which may interfere with lung mechan-
ics and worsen hypoxaemia. Precise assessment of LE by regular
or phase-contrast X-ray, and serial assessment of lung compliance
is difficult. Lung water content (LWC) can be probed using chest
ultrasound (C-u/s) to measure wedge-shaped echodense reflections
(B-lines) impinging in the echo window below the pleural demarca-
tion. This method has been useful to diagnose high-altitude pulmo-
nary oedema and transient tachypnoea in the newborn. Accordingly,
we explored whether C-u/s can be used to assess postoperative LWC
in patients with CHD.
Methods:
We studied six patients with TGA and eight with acyanotic
shunt defects (0.2–0.7 and 2.0–6.2 months of age, respectively). The
measurements were done at
<
two and
<
30 hours postoperatively.
Static lung compliance (L-Cst) was measured under anaesthesia by
the double-occlusion technique (Labmanager 4.52i; Erich Jaeger
