CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
AFRICA
207
1041: CARDIOMYOPATHY IN PATIENTSWITH THEAMISH
AND MENNONITE VARIANT OF PROPIONIC ACIDAEMIA
Devyani Chowdhury
1
, Ron Jacob
1
, Alison Greidinger
2
, Kevin
Strauss
2,3
, D Holmes Morton
2,3
1
Lancaster General Hospital, Pennsylvania, USA
2
Clinic for Special Children, Wilmington, USA
3
Franklin and Marshall College, Pennsylvania, USA
Background
: Propionyl-CoA carboxylase deficiency (propionic
acidaemia, PA) caused by a
PCCB
c.1606A
>
G variant is prevalent
among Amish and Mennonite (Plain) people. Systemic metabolic
crises are infrequent, but they remain at risk for life-threatening
cardiomyopathy, which may result from loss of anaplerotic propi-
onyl-CoA flux into the myocardial tricarboxylic acid (TCA) pool.
Methods
: Thirty-three patients (10.2
±
5.6 years) homozygous
for
PCCB
c.1606A
>
G were followed longitudinally at a single
centre for 250 aggregate patient-years. We studied cardiac morphol-
ogy, function and outcome using ultrasound and cardiac magnetic
resonance (CMR) equipped with quantitative T1 mapping software
(Siemens Healthcare). Two brothers with symptomatic cardiomyo-
pathy were treated with a dietary anaplerotic mixture designed to
supply 2-, 4-, and 6-carbon substrates to the TCA cycle.
Results:
Cardiomyopathy (left ventricular ejection fraction, LVEF
<
3 SD below age-matched controls) developed in 12 (36%) patients.
(EF 58–7%), and was lethal in three children. In PA patients, LV
EF (64
±
11%) was lower than controls (73
±
5%;
p
<
0.0001).
Two brothers with symptomatic cardiomyopathy when treated with
the TCA anaplerotic mixture had resolution of symptoms over four
to six months. LV EF increased from 18 to 56% and 44 to 63%.
CMR during the acute phase showed biventricular dysfunction and
increased end-diastolic volumes but no evidence of tissue fibrosis or
oedema (myocardial interstitial volume 26%). Following anaplerotic
treatment, biventricular function and cardiac volumes normalised
with no tissue scarring (myocardial interstitial volume 29%).
Conclusion:
Cardiomyopathy is common in patients with PA who
are otherwise metabolically stable and is the major cause of untimely
death resulting from the
PCCB
c.1606A
>
G variant. PA should be
considered in patients of any age who present with ‘idiopathic’ cardi-
omyopathy, even when standard metabolic screening tests are normal.
The cardiomyopathy of PA may be fully reversible by supporting the
TCA anaplerotic function normally served by propionyl-CoA.
1042: CHANGES IN CLINICAL SIGNS OF HEART FAILURE
AFTER CARVEDILOL THERAPY IN CHILDREN WITH
LEFT-TO-RIGHT SHUNT CONGENITAL HEART DISEASE
Mahrus Rahman, Teddy Ontoseno, Alit Utamayasa, Hendarti Eddy,
Budiyono Budiyono
Department of Child Health, Medical School, Airlangga University-
Soetomo Hospital, Surabaya, Indonesia
Background:
Heart failure (HF) in children with left-to-right shunt
congenital heart disease (L-R shunt CHD) causes heart remodelling,
making the symptoms worse. Tachycardia, tachypnoea and hepa-
tomegaly are the cardinal signs of HF. Carvedilol, a non-selective
beta-blocker, has shown good results for HF treatment in adults with
tolerable side effects, but there is little evidence in children. The
objective of this study was
to determine the changes in heart rate,
respiratory rate, and hepatomegaly after three months’ carvedilol
additional therapy on top of standard HF therapy in children with
L-R shunt CHD.
Methods:
A randomised, controlled trial was designed for 30
subjects with paediatric heart failure score (PHFS)
>
2 due to L-R
shunts CHD. Subjects were divided into a carvedilol group (
n
=
15)
and placebo group (
n
=
15). Two group received standard therapy
for HF, ACEI and a diuretic. The study lasted for three months.
The changes in heart rate, respiratory rate and hepatomegaly were
observed. Statistical analysis was done using paired
t
-test and inde-
pendent samples
t
-test with confidence intervals of 95%, McNemar
test and Chi-square test, CI 95%.
Results:
Nineteen (63.3%) patients were boys, 11 (36.7%) were
girls. Mean age was 57.6 (SD 43.57) months. Twenty-one had VSD
(70%), nine had PDA (30%). Heart rate and respiratory rate were
significantly decreased in the carvedilol group compared with the
placebo group (
p
<
0.0001). No hepatomegaly was found. Yjere was
no adverse effect during the study.
Conclusion:
Additional therapy with carvedilol on top of standard
therapy for HF due to L-R shunt CHD significantly improved the
clinical signs of HF. Carvedilol was effective and safe as additional
therapy in addition to standard HF therapy.
1047: ERYTHROCYTE DEFORMABILITY MECHANISM IN
TETRALOGY OF FALLOT PATIENTS WITH IRON DEFI-
CIENCY
Teddy Ontoseno
Cardiology Division, Department of Child Health Medical Faculty,
Airlangga University, Surabaya, Indonesia
Background
: Iron deficiency in patients with tetralogy of Fallot (TF)
is an adverse condition related to erythrocyte deformability and the
incidence of fatal complications of the disease. However, the mecha-
nism of erythrocyte deformability in TF patients with iron deficiency
so far remains unexplained.
Objective
: To discover the mechanism of erythrocyte deformability
in TF patients with iron deficiency. This was an observational study
involving four groups: TF patients with iron deficiency (I), TF
patients without iron deficiency (II), non-TF patients with iron defi-
ciency (III), and non-TF patients without iron deficiency (IV). The
variables of erythrocyte deformability used in this study were SaO
2
,
transferrin saturation, H
2
O
2
molecule levels in erythrocytes, and
spectrin-denatured ethrocytes, as well as the number of erythrocytes
passing through a device membrane.
Results
: The reduction in SaO
2
level resulted in a decrease in trans-
ferrin saturation, followed by an increase in H
2
O
2
molecule levels,
leading to a rise in the number of spectrin-denatured erythrocytes,
reduced erythrocyte deformability and a reduction in the number
of erythrocytes passing through a device membrane. Iron therapy
may increase transferrin saturation, thereby reducing the erythrocyte
H
2
O
2
molecular level, and lead to further reduction in the number of
spectrin-denaturated erythrocytes, improved deformability of eryth-
rocytes and increase in the number of erythrocytes passing through
a device membrane.
Conclusion:
This study produced a model describing the contribu-
tion of each discriminator. The discriminator model of the occurrence
of erythrocyte deformability in TF patients with and without iron
deficiency can be applied as a novel basic concept to underscore and
optimise the management of TF patients who have no opportunity to
have cardiac corrective surgery.
1050: USEFULNESS OF N-TERMINAL PRO-B-TYPE
NATRIURETIC PEPTIDE AS BIOMARKERS FOR CONGES-
TIVE HEART FAILURE TREATMENTWITH CONGENITAL
HEART DISEASES
Sevcan Erdem, Pånär Kocak, Alev Kiziltas, Nazan Ozbarlas
Department of Paediatric Cardiology, Faculty of Medicine, Cukurova
University, Turkey
Background:
The aim of this study was to determine plasma
N-terminal pro-B-type natriuretic peptide (NT pro-BNP) levels in
infants with congenital heart disease (CHD) and congestive heart
failure (CHF) before and after decongestive treatment, and correlate
this with the heart failure score.
Methods and Results:
The study comprised 46 infant with CHD
aged from 21 day to 26 months who were categorised into CHF
mild, moderate and severe, according to the modified Ross scoring
system. The patients were evaluated before and 10 and 30 days after
decongestive treatment. Before the treatment, 15 patient had mild
CHF, 27 had moderate CHF and four severe CHF. Mean NT-proBNP
