CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
AFRICA
179
Background
: The predictors for progressive right ventricular (RV)
remodelling following surgical repair of tetralogy of Fallot (TOF) are
not well known.
Objective
: To identify genetic variants associated with progressive
RV remodelling following TOF repair.
Methods
: Patients with repaired TOF were enrolled prospectively
through the Heart Centre Biobank. Eight single-nucleotide polymor-
phisms (SNPs) in six genes identified in association with TOF in a
genome-wide association study were chosen. RV remodelling was
assessed by RV dilation
z
-scores and qualitative RV measurements
obtained through echocardiographic reports, RV ejection fraction
(RVEF), and RV end-systolic volume index (RVESVi) scores from
MRI at their last follow up.
Results:
Of the
141 patients included, 53.9% were male (all
Caucasian; mean age 14.07 years). The mean age at initial repair was
2.1 years and 23 patients subsequently underwent pulmonary valve
replacement at a mean age of 14.16 years. Mean age at last follow up
for echocardiograms was 11.9 years, and for MRI it was 13.2 years.
All SNPs were intronic and in Hardy–Weinberg equilibrium. SNP
c.462+181G
>
A in CHD1L gene was associated with lower RVEF
(mean
=
40.8
±
5.3%) versus the GG genotype (mean
=
49.7
±
6.4%,
p
<
0.0007). SNP c.127+3084C
>
T in CHD1L was associated with
lower RVEF (mean
=
40.8
±
5.3%) compared to CC genotype (mean
=
50.2
±
6.3%,
p
<
0.0004). SNP c.344-1874G
>
A in TNNI3K gene
was associated with higher RVESVi (mean
=
94.5
±
40.3 ml/m
2
)
versus the GG genotype (mean
=
73
±
1.4 ml/m
2
,
p
<
0.0036).
Conclusion:
Genetic variants associated with TOF causation also
influenced RV remodelling after TOF repair. Genotype knowledge
may help early identification of at-risk patients for optimisation of
medical and/or surgical management.
673: SPECTRUM OF CONGENITAL HEART DISEASE
AMONG CHILDREN PRESENTING TO THE UGANDA
HEART INSTITUTE, KAMPALA, UGANDA
Peter Lwabi, Sulaiman Lubega, Twalib Olega
Paediatric Cardiology, Uganda Heart Institute, Uganda
Congenital heart diseases are among the commonest birth defects
globally. The echo diagnoses of children who presented to the
Uganda Heart Institute were reviewed over a period of five years
(January 2007 to December 2011). The Uganda Heart Institute is a
super speciality centre located within Mulago Hospital, the country’s
main referral hospital. It is the main centre that offers peadiatric
cardiac services in the country.
Objectives:
(1)
To describe the common congenital cardiac lesions
among children in Uganda, (2) to establish a registry for congenital
heart disease. To date no large-scale database exists.
Methods:
An ongoing registry has been compiled since 2007 by
generating echo reports and storing them digitally. These records
were retrieved and analysed. Data were compiled in simple tabular
form and percentages.
Results:
Out of a total of 3 849 children with an echo diagnosis of
heart disease, 2 663 children were found to have a congenital cardiac
defect. VSD was the commonest acyanotic heart defect (26.5%) and
tetralogy of Fallot was the most common cyanotic heart defect (7.0%).
There was a much higher prevalence of truncus arteriosus in our series
(4.6%) compared to the reported prevalence of about 1–2% in most
studies. Coarctation of the aorta was almost non-existent (0.26%).
Conclusion:
The prevalence of congenital heart disease is as common
as that reported elsewhere. There may be regional differences in the
type of defects seen. Further studies are needed to ascertain whether
genetic or environmental factors account for these variations.
681: CONGENITALLY CORRECTED TRANSPOSITION OF
THE GREAT ARTERIES: SINGLE-CENTRE EXPERIENCE
Ayse Guler Eroglu
1
, Selman Gokalp
2
, Funda Oztunc
1
, Levent Saltik
1
,
Bulent Koca
1
1
Department of Paediatric Cardiology, Cerrahpasa Medical Faculty,
Istanbul University, Turkey
2
Department of Paediatric Cardiology, Trakya University Medical
Faculty, Istanbul, Turkey
3
Department of Paediatric Cardiology, Harran University Medical
Faculty, Sinliurfa, Turkey
Background:
There are several rhythm and conduction disturbances
associated with congenitally corrected transposition of the great
arteries (ccTGA). The purpose of this study was to determine the
incidence of rhythm and conduction disturbances in ccTGA patients
with two adequate-sized ventricles.
Methods:
Retrospective analysis of the records of 49 patients from a
single centre were reviewed to determine long-term results of ccTGA
patients.
Results:
The study comprised 49 patients (15 girls, 34 boys). The
median age of the patients at initial presentation was three months
(one day to 34 years) and mean period of follow up was 4.5
±
1.8
years (one month to 22 years). Forty-seven of them had associated
heart anomalies. The most common associated lesion was VSD (38
patients). Pulmonary valve abnormalities were second most common
lesion. Pulmonary stenosis was more common than pulmonary
atresia (17 vs six patients). As usual, Ebstein anomaly and tricuspid
regurgitation were quite common among our patients. During the
follow-up period, 18 patients had a total of 22 operations. Systemic-
to-pulmonary circulation shunts were the most common procedures
(nine patients). Conventional biventricular repair and double-switch
procedure were performed equally (5/5 patients). Tricuspid valve
replacement was performed in two patients. At initial examination,
two patients had first-degree AV block, one second-degree AV
block and one congenitally complete AV block, Additionally, one
patient had atrial ectopic rhythm, and one left bundle branch block.
Supraventricular tachycardia was detected in three patients. At follow
up, complete AV block developed in five patients after intracardiac
surgery. Pacemaker implantation was required for these patients and
one patient with congenitally complete AV block.
Conclusions:
Patients diagnosed as ccTGA should be followed
lifelong. During the disease course they may need different types of
surgical procedures and ccTGA may complicate with different types
of rhythm and conduction disturbances at any time.
688: THE UTILITY OF TRANSIENT ELASTOGRAPHY TO
ASSESS FOR HEPATIC FIBROSIS IN PAEDIATRIC FONTAN
PATIENTS
Becky Chen
1
, Richard Schreiber
1
, Derek Human
2
, James Potts
2
, Orlee
Guttman
1
1
Gastroenterology, Hepatology and Nutrition, British Columbia
Children’s Hospital,UBC, Canada
2
Children’s Heart Centre, British Columbia Children’s Hospital,
UBC, Canada
Background
: Hepatic fibrosis (HF) is a recognised complication
following Fontan surgery and heralds long-term risk for cirrhosis,
with significant morbidity. While liver biopsy is considered the gold
standard to assess for HF, it is invasive and potentially life-threat-
ening. Transient elastography (elastography) is a novel diagnostic
tool that offers a rapid, non-invasive method for monitoring HF. The
device measures liver stiffness by transmitting a vibration to deter-
mine the velocity of an elastic shear wave propagated through liver
tissue. For the diagnosis of HF, elastography cut-off values range
from 7.1–8.8 kPa. Few reports have examined elastography in post-
operative paediatric Fontan patients.
Objective:
To measure and compare liver stiffness in post-operative
paediatric Fontan patients with age-matched controls utilising elas-
tography.
Methods:
Fontan patients (
n
=
14) and controls (
n
=
28) were
enrolled at cardiology and GI clinics at British Columbia Children’s
Hospital. Demographic information, echocardiography and cardiac
catheterisation data were collected. Elastography measurements
using age and size-appropriate imaging probes were obtained.
