CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
192
AFRICA
Gideon du Marchie Sarvaas
2
, Ronald Tanke
3
Gabrielle van Iperen
4
,
Ad Backx
5
, Derk-Jan Ten Harkel
6
, Lukas Rammeloo
7
, Michiel
Dalinghaus
1
1
Sophia Children’s Hospital, Erasmus Medical Centre, Rotterdam,
Netherlands
2
Beatrix Children’s Hospital, University Medical Centre Groningen,
Groningen, Netherlands
3
University Medical Centre St Radboud, Nijmegen, Netherlands
4
Wilhelmina Children’s Hospital, University Medical Centre Utrecht,
Utrecht, Netherlands
5
Emma Children’s Hospital, Academic Medical Centre, Amsterdam,
Netherlands
6
Leiden University Medical Centre, Leiden, Netherlands
7
Free University Medical Centre, Amsterdam, Netherlands
Background:
Dilated cardiomyopathy (DCM) in children is a severe
disease with a grave prognosis. However, a subgroup may recover
completely or do well for years. In this retrospective study we sought
to describe outcome and to identify predictors of outcome.
Methods:
Children presenting with DCM between 2005 and 2010
were included. Data at presentation and in the month before reach-
ing an endpoint or closing the study were retrospectively analysed.
Three subgroups were defined, (1) those reaching a primary endpoint
[death, heart transplantation (HTx) or mechanical circulatory support
(MCS)]; (2) recovering patients [left ventricular end-diastolic dimen-
sion (LVEDd) and SF
<
p95] or (3) those with ongoing disease.
Results:
One hundred and eight children were included [median
follow up 1.8 years (range 0–5.4)]; 25 (23%) children reached a
primary endpoint (10 died, three HTx, 11 MCS), 33 (31%) recovered
and 50 (46%) had ongoing disease. The time (median, IQR) to a
primary endpoint was significantly shorter [0.2 years (0.03–1.1)]
than the time to recovery [0.8 years (0.3–2.5)] (
p
<
0.05). Fifty-four
(50%) children had idiopathic DCM, 21 (19%) had myocarditis.
Fifteen (28%) children with idiopathic disease reached a primary
endpoint, compared to only one (5%) with myocarditis (log rank
p
<
0.05). At presentation, LVEDd (SD) was larger in children reaching
a primary endpoint [
z
-score +6.9 (
±
3.9)] than in those recovering
[
z
-score +5.0 (
±
2.5)] (
p
<
0.05). During follow up, LVEDd
z
-score
further increased in children reaching a primary endpoint (+0.5/
year), in contrast to those who recovered (–2.9/year) (
p
<
0.01). At
presentation, weight for height (WFH) was similar in all subgroups,
but during follow up children reaching a primary endpoint lost
weight (–0.6 WFH SDS/year) in contrast to those not reaching a
primary endpoint (+0.4 WFH SDS/yr) (
p
<
0.05).
Conclusion:
One-fourth of children with DCM reached a primary
endpoint. Adverse outcome was related to (at presentation) idiopathic
disease and large LV, and (during follow up) further LV dilatation
and weight loss. Favourable outcome was related to myocarditis and
reverse remodelling during follow up.
841: OXIDATIVE PHOSPHORYLATION DISORDERS
AMONG CHILDRENWITH SEVERE CARDIOMYOPATHY
Hannah Lipshultz
1
, Suraj Varma
1
, David Thorburn
2
, Avihu Boneh
3
,
Anne Shipp
1
, Joy Lee
3
, Robert Weintraub
1
1
Department of Cardiology, Royal Children’s Hospital, Melbourne,
Australia
2
Murdoch Children’s Research Institute, Royal Children’s Hospital,
Melbourne, Australia
3
Victorian Clinical Genetics Services, Royal Children’’s Hospital,
Melbourne, Australia
Background:
Cardiac involvement occurs in 17 to 40% of children
with oxidative phosphorylation (OXPHOS) disorders, but the inci-
dence of OXPHOS disorders among children with primary cardio-
myopathy is unknown.
Methods:
We analysed data of all children with documented cardio-
myopathy who underwent OXPHOS testing between 1984 and 2012.
Testing on heart, skeletal muscle and/or liver was performed because
of the suspicion of a mitochondrial condition, the use of circula-
tory support, cardiac transplantation or death. Children with severe
non-cardiac organ dysfunction were excluded. The diagnosis of an
OXPHOS disorder was based on results of enzymology in conjunc-
tion with established diagnostic criteria. Cardiomyopathy type was
characterised by a single cardiologist.
Results:
There were 62 patients (50% female). The median (IQR) age
at presentation was 1.29 (0.31–7.43) years. The median (IQR) duration
of follow up was 1.03 (0.12–7.37) years. During this time 25 (40.3%)
children received a transplant and 21 (33.9%) died. Eleven (17.7%)
patients had a definite OXPHOS deficiency, one (1.6%) was consid-
ered probable and seven (11.3%) were considered possible. These
included 13 of 38 (34.2%) children with dilated cardiomyopathy, five
of 11 (45.5%) children with hypertrophic cardiomyopathy, one of five
(20%) children with left ventricular non-compaction and none out of
eight (0%) children with restrictive cardiomyopathy. Of 51 children
without any documented extra-cardiac abnormalities, eight (15.7%)
were considered definite and six (11.8%) possible. The predominant
clinical findings in this group at presentation were congestive heart
failure (
n
=
37, 72.5%) and arrhythmias (
n
=
5, 9.8%). There was no
difference in age and signs at presentation between those with and
without an OXPHOS disorder. Transplant-free survival was similar in
both groups (9/20; 45% vs 7/17; 41%, respectively).
Conclusions:
OXPHOS disorders may have a variable cardiomyo-
pathy phenotype, and were common in this cohort of children with
severe cardiomyopathy.
847: RESULTS OF CARDIAC CATHETERISATION AND
TREATMENT OF PROTEIN-LOSING ENTEROPATHY IN
CHILDREN WITH HLHS AFTER THE FONTAN PROCE-
DURE
Piotr Werynski, Andrzej Rudzinski, Zbigniew Kordon, Jacek Kolcz,
Janusz Skalsk
2
Jagiellonian University Medical College, Cracow, Poland
Objective:
Protein-losing enteropathy (PLE) occurs in three to 15%
of patients with Fontan circulation. All require adequate medication,
cardiac catheterisation (CC) and some re-intervention. We reviewed
the cardiac catheterisation laboratory database at the University
Children’s Hospital of Cracow, Poland, to identify HLHS patients
after a Fontan procedure (FP), who underwent CC between January
2001 and July 2012.
Results:
At that time, 330 HLHS children were palliated using FP,
with only one postoperative death. Of 21 patients subjected to CC,
in 10 (50%) patients operated when
x
–2.9
±
1 years old and cath-
eterised when
x
–5.8
±
2.5 years old, the cause was PLE confirmed
by blood and stool alpha-1 antitrypsin levels. The time from FP to
CC ranged from three months to 7.5 years,
x
–2.6 years. In only one
patient (with PLE recognised three months post-FP), no structural
cardiac changes were found. Two patients revealed narrowed intera-
trial communication and required re-operation, seven had significant
left, and one bilateral pulmonary artery branch stenosis demanding
balloon pulmonary angioplasty (BPA) (in five patients with stents).
Before BPA, the dimension of the most narrowed pulmonary artery
branch ranged from 1.5–6.2 mm and after, 5.8–12 mm,
x
–9.1 mm.
Systemic venous pressure ranged from 13–22 mmHg,
x
–16 mmHg,
RVEDP: 4–13,
x
–7.6 mmHg, Sa02: 88–99%,
x
–95.1%. The follow
up ranged from 0.5–7.5 years,
x
–2.2 years. All patients were treated
with diuretics (furosemide, spironol, hydrochlorothizide), ACE
inhibitors (enarenal, captopril), and aspirin (one was also on warfa-
rin), and received a specific high-protein MCT product-enriched diet,
three additionally received steroids and sildenafil, two steroids, and
one sildenafil. Significant improvement was achieved in 8/10, with
protein levels increasing from
x
–42.4
±
6.5 g/l to 53.5
±
9.5 g/l.
Conclusions:
Post-FP, the majority of HLHS and PLE patients
may reveal various structural changes that impede Fontan circula-
tion. Management of PLE requires elimination of such changes and
complex, mostly symptomatic treatment.
