CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
AFRICA
259
echocardiography and was evident clinically in 8 patients (13.8%).
Median CPB time was 64 minutes (40–106 min). DHCA was used in
all cases with a median time of 29 minutes (24–37 min).
Results:
Hospital mortality was 1.7% (
n
=
1). Cause of death in this
case was low cardiac output due to heart failure. Follow-up was avail-
able for all of the operative survivors for a median period of 6.8 years
(2.5 months to 14 years). Five patients underwent repeat surgery; 3 of
them had obstruction and 2 had residual anomalous pulmonary vein
connection. The times to reoperation for anastomotic stricture (
n
=
3)
were 13 days, 3 months, 4 years. Late mortality was 1.7% (
n
=
1);
this patient died of heart failure due to PV obstruction. The overall
mortality of this series was 3.4% (
n
=
2). Hospital mortality has not
been observed since 2008 in all age groups.
Conclusion:
TAPVC is a rare congenital heart lesion, which still
remains a surgical challenge. Despite the good short-term results of
surgical correction, we should focus on long-term results, analysis of
which will help us to reduce the number of late complications, the
need for re-interventions and improve the quality of life.
1675: ANOMALOUS LEFT CORONARY ARTERY TO
PULMONARY ARTERY (ALCAPA) AT RED CROSS WAR
MEMORIAL CHILDREN’S HOSPITAL (RCWMCH), CAPE
TOWN
Beyra Rossouw
1,2,3
, Liesl Zulke
1,2
, John Lawrenson
1,2,3
1
Red Cross War Memorial Children’s Hospital (RCWMCH), Cape
Town, South Africa
2
School of Child and Adolescent Health, University of Cape Town,
Cape Town, South Africa
3
Tygerberg Children’s Hospital, Stellenbosch University, Cape Town,
South Africa
Introduction:
Dilated cardiomyopathy (DCM) has a poor prognosis
in the developing world where ICU beds, mechanical assist devices
and cardiac transplants are limited. ALCAPA presents similarly
to DCM but is surgically treatable; therefore ALCAPA should be
considered when investigating DCM.
Aim:
To audit patients admitted to RCWMCH with a new diagnosis
of ALCAPA.
Method:
We did a retrospective folder review of ALCAPA patients
admitted between July 2004 and August 2012.
Results:
Twenty-five newly diagnosed ALCAPA patients with
median age of 5.3 (range 0.5– 30) months at presentation were
selected. Presenting symptoms were tachypnoea in 96%, cardio-
megaly 92%, coughing 88%, failure to thrive 60%, feeding difficulty
52%, and gallop in 44%. Median length of symptoms was 24 days
(range 1–300). The diagnosis was made on echocardiography in
68%. Echocardiography findings were pathological MR and dilated
LV in 79%, and bright papillary muscles in 78%. Median ejection
fraction on admission was 26%. Median time from RCWMCH
admission to surgery was 5 days (range 1–20). All received coronary
reinplantation. Median cross clamp and bypass time was 71 and
140 minutes, respectively. Twenty-four per cent had delayed sternal
closure. Median length of hospital stay, ICU stay, ventilation and
inotropic support was 21, 10.8, 7.4 and 9.3 days, respectively. Median
Wernovsky inotrope score was 32 (5–85). Perioperative compli-
cations included sepsis 68%, pleural effusion 24%, arrhythmias
needing pacing 20%, bleeding 16% and renal replacement therapy
12.5%; 92% (23/25) survived to hospital discharge, 1 patient died pre
surgery and 1 during surgery. Three patients died during subsequent
admission for intercurrent chest infection.
Conclusion:
RCWMCH can expect 3 new ALCAPA cases per year
presenting in congestive cardiac failure. Treatment is successful
with mortality rates comparable to the developed world. The major
complication is perioperative-related sepsis.
1683: SINGLE- VERSUS TWO-STAGE REPAIR FOR
PATIENTS WITH PULMONARY ATRESIA AND MAJOR
AORTOPULMONARY COLLATERALS
Zeena Makhija, Rajesh Sharma
Fortis Escorts Heart Institute and Research Center, New Delhi, India
Background:
Both single and staged approaches are described for
patients with pulmonary atresia (PA) and variable availability of
major aortopulmonary collaterals (MAPCAs) for unifocalisation.
We compared the outcomes between patients who underwent single-
stage versus staged repair for this pathology at our institution.
Materials and methods:
Between 2007 and 2012, 61 patients who
underwent procedures for ventricular septal defects (VSD), PA and
MAPCAs were reviewed. Preoperative computed tomographic angio-
gram was done in all patients to evaluate pulmonary vasculature and
MAPCAs. Twenty-five patients (group I) who underwent a staged
repair (VSD was not closed in the 1
st
stage) were compared with
36 patients (group II) who underwent single-stage complete repair
(VSD closed). The first stage included a systemic to PA shunt in 19
patients, shunt and unifocalisation in 6 and shunt and MAPCA liga-
tion/coil embolisation in 8. All patients of group I underwent VSD
closure and right ventricle (RV) to PA conduit interposition after a
minimum follow-up period of 6 months. The number of MAPCAs
unifocalizsed per patient ranged from 1 to 4(median 2) in both
groups.
Results:
There was no significant difference in the overall early
complication rate between the two groups. Early mortality was
significantly higher in patients who underwent staged procedures (
n
=
8) versus those who underwent single stage complete repair (
n
=
0)
(
p
=
0.01). At a median follow-up period of 70 months, late mortality
was similar between the two groups (
p
=
0.45).
Conclusions:
The data demonstrate that single-stage complete repair
has yielded good early and midterm results. The high mortality of the
shunt group indicates the need for an alternative strategy to improve
pulmonary blood flow other than a systemic to PA shunt. A palliative
RV to PA conduit can be considered in these patients.
1684: A NOVEL SYNDROME OF HUMAN PACEMAKING
DYSFUNCTION: LESSONS FROM A RARE DISEASE FOR
PERSONALIZED MEDICINE
Philippe Chetaille
1
, Jean-Marc Coté
1
, Christine Houde
1
, Michel
Cameron
2
, Severine Leclerc
2
, Louise Gosselin
1
, Maryse Thibeault
2
,
Steve Jones
3
, Gregor Andelfinger
2
1
Cardiology Service, Centre Hospitalier Universitaire de Quebec,
Quebec, Canada
2
CV Genetics, Sainte Justine Hospital, University de Montréal,
Quebec, Canada
3
University of British Columbia, Vancouver, Canada
Background:
Lifelong rhythmic contractions are the hallmark of
the human heart and gut. They result from the pacemaking activ-
ity of the specialised tissue, namely the sinoatrial node in the heart
and interstitial cells of Cajal in the gut. Here, we describe a new
syndrome characteried by progressive loss of normal sinoatrial node
function (sick sinus syndrome (SSS)) and chronic intestinal pseudo-
obstruction (CIPO) in French-Canadians.
Methods:
Detailed chart review, family history, physical exam, ECG
and echocardiography were performed in 14 carriers with SSS/CIPO.
Whole exome sequencing was performed in three affected patients
and analysed under a model of recessive inheritance.
Results:
Age at onset of SSS was between 6 and 27 years of age,
with all features of bradycardia-tachycardia syndrome. Pacemaker
implantation was required in 5 individuals (age 6–21 years).
Gastrointestinal symptoms appeared between 5 and 14 years of age,
but not in any particular order to SSS/CIPO. Unexpectedly, we found
that a mutation in shugoshin-like 1 (
SGOL1)
, a component of the
cohesin complex, leads to this hitherto undescribed syndrome. All
surviving affected patients are homozygous carriers of a founder
mutation in
SGOL1
(c.67 T
>
C [p.Lys23Glu]) which results in a
dramatic change of a highly conserved amino acid. Haplotype and
genealogical analysis point to the introduction of a founder mutation
at least 220 years ago. None of the unaffected first-degree relatives
