CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
AFRICA
225
1250: CLINICAL COURSE AND PROGNOSIS OF HYPER-
TROPHIC CARDIOMYOPATHY IN EGYPTIAN CHILDREN
Sonia Elsaiedi, Zeinab Salah, Reem Ibrahim
Cairo University Children’s Hospital, Egypt
Background:
Hypertrophic cardiomyopathy (HCM) is an important
cause of disability and death in patients of all ages. Egyptian children
may differ from Western and Asian patients in the pattern of hyper-
trophic distribution, clinical manifestations and risk factors.
Objectives:
The present work aimed to
register the clinical character-
istics and outcomes of our children with HCM over a period of seven
years, and to determine whether reported adult risk factors for SCD
are predictive of outcome in these affected children.
Methods:
This was a retrospective study that reviewed the clinical
data of 128 paediatric HCM patients. These data included personal
and family history, physical examination, baseline laboratory meas-
urements, ECG, Holter and echocardiographic results. Logistic
regression analysis was done for detection of risk factor of death.
Results:
Fifty-one out of 128 patients died during the period of the
study. Extreme LVH [interventricular septal wall (IVS) thickness or
posterior wall (PW) thickness
z-
score
>
6, presence of sinus tachycar-
dia and supraventricular tachycardia (SVT)] was an independent risk
factor for prediction of death in patients with HCM.
Conclusions:
In our Egyptian tertiary care centre, HCM has a rela-
tively bad prognosis.
Infants have a worse outcome than children
presenting after the age of one year. A poorer prognosis in HCM is
predicted by extreme LVH, presence of sinus tachycardia and SVT.
1251: INITIAL EXPERIENCE WITH CARDIAC RESYN-
CHRONISATION THERAPY IN PAEDIATRIC PATIENTS
Himal Dama¹, EGM Hoosen¹, A Nzimela¹, J Ragadu¹, B Vezi²
1
Department of Paediatric Cardiology, Inkosi Albert Luthuli Central
Hospital, Nelson R Mandela School of Medicine, University of
KwaZulu Natal, Durban, South Africa
2
Department of Cardiology, Inkosi Albert Luthuli Central Hospital,
Nelson R Mandela School of Medicine, University of KwaZulu
Natal, Durban, South Africa
Introduction:
Cardiac resynchronisation therapy (CRT) is an effec-
tive intervention in adults with heart failure who do not improve after
optimisation of medical therapy. Experience in paediatrics is limited
in terms of patient numbers and long-term follow up. We present our
experience with two paediatric patients on CRT at our institution.
Case reports:
Patient 1 was diagnosed with an ASD and a large
VSD that was surgically corrected at one year of age. The surgery
was complicated by complete heart block, necessitating the insertion
of an epicardial pacemaker. Over the next three years he developed
dilated cardiomyopathy (DCMO), which did not improve on optimal
medical therapy. A CRT pacemaker system was inserted epicardially
at the age of four years. He now displays improved exercise tolerance
on a six-minute walk test, with improved LV function.
Patient 2 presented as a neonate with complete heart block. An
epicardial pacemaker was inserted. Over the next five years she
developed DCMO despite optimal medical therapy. A CRT pace-
maker system was inserted epicardially at the age of five years. She
now has improved symptoms and LV function.
Discussion:
CRT has emerged as an effective treatment strategy for
pacemaker-induced DCMO, as chronic RV stimulation can adversely
influence LV function over time. The indications, procedures and
outcomes for CRT in paediatrics are evolving. CRT has been shown
to improve symptoms, exercise capacity and quality of life.
Conclusion
: CRT was associated with improved outcomes in our two
patients with pacemaker-induced DCMO.
1257: SYNDROMIC PHENOTYPES OF UGANDAN CHIL-
DRENWITH CONGENITAL HEART DISEASE
Andrea Beaton
1
, Laura Harris
1
, Twalib Aliku
2
, Sulaiman Lubega
2
,
Peter Lwabi
2
, Brendan Lanpher
1
, Craig Sable
1
1
Children’s National Medical Centre, Washington, USA
2
Uganda Heart Institute, Uganda
Background:
This study determined the occurrence and pattern of
recognisable genetic syndromes in Ugandan children with congenital
heart disease.
Methods:
A medical geneticist, genetic counsellor and cardiologists
from the Uganda Heart Institute (UHI) at Mulago Hospital, and
Children’s National Medical Centre in Washington, DC, evalu-
ated children with congenital heart disease. Cardiac diagnoses
were confirmed by echocardiography. Phenotypic assessment was
performed and family history obtained.
Results:
The 124 children with congenital heart disease were evalu-
ated over a one-week period in February 2012. Mean age was 5.5
±
5.5 years. The most common diagnoses were ventricular septal
defect (
n
=
40), tetralogy of Fallot (
n
=
28), pulmonary stenosis (
n
=
12), atrial septal defect (
n
=
11), double-outlet right ventricle (
n
=
8),
patient ductus arteriosus (
n
=
7), and truncus arteriosus (
n
=
6). By
phenotypic evaluation, 26 (20%) of these children had a suspected
genetic syndrome: 22q11 deletion (
n
=
10), Noonan (
n
=
5), Down (
n
=
4), Turner (
n
=
3), Kabuki (
n
=
2), Holt-Oram (
n
=
1) and CHARGE
(
n
=
1). The majority of patients phenotypically positive for 22q11
deletion syndrome (9/10) had a conotruncal abnormality: tetralogy of
Fallot (seven), D-transposition of the great arteries (one), or truncus
ateriosus (one). The majority with a Noonan’s syndrome phenotype
(four/five) had pulmonary stenosis. An additional 15 patients (12%)
had a pattern of dysmorphic features suggesting an unrecognisable
syndrome. Five children (4%) had a family history of one or more
first- or second-degree relatives with congenital heart disease.
Conclusions:
This is the first phenotypic survey of CHD in an East
African population. Our data suggest a substantial number of chil-
dren with known congenital heart disease have underlying genetic
abnormalities. Truncus arteriosus constitutes a larger-than-expected
proportion of children with congenital heart disease. Coarctation
of the aorta is under-represented. Genotypic studies are needed to
evaluate the full spectrum of genetic variation seen in this population.
1259: GENETIC SUSCEPTIBILITY TO ENDOMYOCARDIAL
FIBROSIS
Andrea Beaton
1
, Joshua Hoffman
2
, Charles Mondo
3
, Nezih Cereb
4
,
Michael Mongomo
3
, Juergen Freers
3
, Craig Sable
1
1
Children’s National Medical Centre, Washington, DC, USA
2
Vanderbilt University, Nashville, TN, USA
3
Uganda Heart Institute, Mulago Hospital, Kampala, Uganda
4
Histogenetics, Westchester, New York, USA
Background
: Endomyocardial fibrosis (EMF) is the most common
form of restrictive cardiomyopathy. Cases have been reported from
tropical and subtropical regions around the equator and have repeat-
edly been shown to cluster both within families and within select
ethnic groups. Eosinophilia is an independent risk factor for EMF,
suggesting that both genetic and environmental factors play a role
in disease development. This study was designed to investigate the
genetic susceptibility to EMF, and possible links with eosinophilia. It
sought associations between EMF and inherited alleles in the human
leukocyte antigen (HLA) system, including antigens HLA-A, -B,
-C, -DR, and -DQ. Alleles in the HLA-A1 region have previously
been associated with predisposition to allergic and hypersensitivity
reactions.
Methods
: Fifty patients with EMF and 50 controls were recruited
from the Uganda Heart Institute and the cardiology ward at Mulago
Hospital. EMF was confirmed by echocardiography. Blood was
obtained from peripheral venipuncture and sequence-based typing
was used to identify HLA class I (HLA-A, -B, -C) and class II
(DRB1 and DQB1) genes. Chi-square analysis was used to identify
any difference in class I and class II HLA alleles between cases and
controls.
Results
: HLA-A*02:02 appeared more frequently at site A1 in the
cases than in controls (29% in cases compared to 4% in controls).
