CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
194
AFRICA
Background:
Kawasaki’s disease is a mucocutaneous lymph node
syndrome of unknown aetiology with an estimated incidence of 9–19
per 100 000 children younger than five years. It is speculated to be
due to immune system abnormalities initiated by an infectious insult.
Kawasaki’s disease is more prevalent in the Asian community with
peak incidence between the ages of one and two years, and 80%
of the cases present before the age of four years. Cardiovascular
complications include pericardial effusions, coronary artery aneu-
rysms and myocardial infarction. Early treatment with intravenous
immunoglobulin and aspirin form the mainstay of treatment. Serial
echocardiography is indicated to monitor the development of coro-
nary artery aneurysms. Occasionally coronary artery angiography
and bypass surgery might be indicated.
Case presentation:
A nine-year-old Zimbabwean boy presented
with congestive cardiac failure. There was no recent history of a
febrile disease. On echocardiography he was found to have dilated
cardiomyopathy and dilated left main coronary artery. A diagnosis
of Kawasaki’s disease was suspected. He was started on anti-failure
treatment, aspirin and warfarin. Cardiac catheterisation showed an
aneurysmal origin of the left coronary artery, with complete occlu-
sion of the left anterior descending branch. A further area of stenosis
and aneurysm was found in the right coronary artery. A few days post
catheterisation he presented with a right-sided hemiplegia and apha-
sia. On echocardiography he had left ventricular thrombi and on CT
brain, an embolic cerebrovascular incident involving the left middle
cerebral artery and basal ganglia was confirmed. Coronary artery
bypass surgery was considered, but on myocardial isotope scanning,
there was no viable tissue in the left anterior descending artery terri-
tory. On follow up, he remains with left ventricular dysfunction.
Conclusion:
A rare case of Kawasaki’s disease with dilated cardio-
myopathy, due to a previously undiagnosed myocardial infarction is
presented. With early treatment, these complications are rarely seen.
855: CONSANGUINITYAND LONG QT SYNDROME: EXPE-
RIENCE FROM SAUDI ARABIA
Safar Al-Shahrani
1
, Arif Khan
2
, AbdurRehman Al Moukirish
2
, Yahya
Almasham
2
, Zahir Bhuiyan
3
, Tarek Momenah
4
1
Department of Paediatric Cardiology, Khamis Mashayt Military
Hospital, Saudi Arabia
2
Department of Congenital and Structural Heart Diseases, Prince
Salman Heart Centre, Saudi Arabia
3
Service of Medical Genetics, University Hospital Lausanne (CHUV),
Switzerland
4
Department of Congenital and Structural Heart Diseases, Prince
Salman Heart Centre, Saudi Arabia
Introduction:
Congenital long QT syndrome (LQTS) is usually an
autosomal-dominant inherited cardiac arrhythmia disorder. Patients
are predisposed to ventricular tachyarrhythmias and fibrillation lead-
ing to recurrent syncope and/or sudden cardiac death. Not much is
known about the prevalence, clinical severity and genetics of LQTS
in communities with high rates of consanguinity.
Objective
: We performed clinical and genetic investigations in eight
Saudi Arabian families with a history of unexplained sudden death in
children. Additionally, we also investigated the pathology of repeated
intra-uterine foetal deaths in two families.
Methods and Results
: Clinical symptoms, ECG phenotypes and
genetic findings led to the diagnosis of LQT1 in four families (reces-
sive) and LQT2 in four families (three recessive and one dominant).
Onset of arrhythmia was more severe in all recessive carriers and
occurred during early childhood in all recessive LQT1 patients.
Arrhythmia originated at the early intra-uterine stages of life in the
recessive LQT2 patients. LQT1 causal mutation c.387 -5 T
>
A in the
KCNQ1
gene was detected in three families. LQT2 causal mutation
c.3208 C
>
T (p.Q1070X) in the
KCNH2
gene were identified in two
families. In one family with sudden death of five siblings, we identi-
fied an unclassified variant c.1179 G
>
T (p.K393N) in the
KCNQ1
gene. This variant was present in heterozygous form in about 2% of
the healthy Arabs, but not in healthy Caucasian controls.
Conclusion:
Mutations detected in this study are novel, founder
mutations in the Assir province of Saudi Arabia. Due to the high
rate of consanguineous marriages in the Assir province, we could
speculate that the mutations in
KCNQ1
(c.387 -5 T
>
A) and
KCNH2
(c.3208 C
>
T; p.Q1070X) could be quite frequent in LQTS patho-
genicity and could be used as a first line of genetic investigation
before proceeding to comprehensive screening for all LQTS causal
genes. Further, c.1179 G
>
T (p.K393N) in
KCNQ1
, although present
in heterozygous form in about 2% of the healthy Arabs, we suspect
this variant could be highly deleterious when present in homozygous
form. We are currently conducting studies to establish the patho-
genicity of the p.K393N (KCNQ1) variant.
860: NATRIURETIC PEPTIDES IN MYOCARDIAL
DYSFUNCTION IN NEWBORNS WITHOUT STRUCTURAL
HEART DISEASE
Usha Pratap
1
, Sumit Italiya
2
, Arti Rajhans
2
, Rajan Joshi
2
1
Paediatric Cardiology, Deenanath Mangeshkar Hospital, Pune, India
2
Neonatology, Deenanath Mangeshkar Hospital, Pune, India
Background:
Myocardial dysfunction is increasingly recognised
in sick newborns without structural heart disease.With increasing
availability of biomarkers for congestive heart failure, we analysed
the role of serum proBNP (pro brain natriuretic peptide) levels in
newborns with suspected myocardial dysfunction, in addition to ECG
and echocardiography.
Methods:
All newborns with suspected myocardial dysfunction had
a 12-lead ECG, serum proBNP and a detailed echocardiogram done.
Modified inotrope score (MIS) was calculated for the first five days
in babies who needed inotropes (threshold value 1 000)
Results:
Forty babies were included in the study. Mean gestational
age was 36 weeks, mean birth weight 2 480 g; 50% of babies were
born by C-section and antenatal stress factors were present in 85%
of the babies. ECG abnormalities included low voltage, T-wave
abnormalities and ST depression; 26 newborns with poor systolic
and diastolic function had ECG abnormalities and only two with
normal function had the same (
p
=
0.008). ECG was a poor predictor
of isolated diastolic functional abnormalities.
Conclusions:
The serum natriuretic peptides are a useful tool to
assess cardiac failure in the sick newborn and need to more widely
used. Available but underutilised tests such as ECG can also help in
the early diagnosis of cardiac failure in the newborn.
862: EVALUATION OF CARDIAC AUTONOMIC FUNCTION
USING HEART RATE VARIABILITY IN CHILDREN WITH
ACUTE CARBON MONOXIDE POISONING
Cagdas Vural
1
, Birsen Ucar2, Ener Cagri Dinleyici
3
, Zubeyir Kilic
2
,
Tevfik Demir
2
1
Department of Paediatrics, Medical Faculty, Eskisehir Osmangazi
University, Turkey
2
Department of Paediatric Cardiology, Medical Faculty, Eskisehir
Osmangazi University, Turkey
3
Paediatric Intensive Care, Medical Faculty, Eskisehir Osmangazi
University, Turkey
Background:
Carbon monoxide (CO) poisoning may cause myocar-
dial toxicity and cardiac autonomic dysfunction, which may contrib-
ute to the development of life-threatening arrhythmias. Autonomic
nervous system function can be measured by heart rate variability
(HRV), a non-invasive index of autonomic controls of the heart.
We investigated the potential association between CO exposure and
cardiac autonomic function as measured by HRV.
Methods:
This study included 40 children (18 boys and 22 girls) aged
between one and 17 years admitted to the emergency department
with acute CO poisoning, and 40 healthy age- and gender-matched
controls. Carboxyhaemoglobin (COHb) and cardiac enzymes were
measured at admission. Twenty-four-hour Holter electrocardiogra-
phies were digitally recorded; HRV was analysed in both the time
