CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 1, January/February 2013
130
AFRICA
1713: THE FATE OF YOUNG PEOPLE WITH FAMILIAL
HYPERCHOLESTEROLAEMIA II/A TREATED BY HELP
Nemeth Agnes, Horvath Elizabeth, Szabolcs Judit, Tordas Danie,
Szamosi Tamas
Department of Pediatrics, Faculty of Medicine, Semmelweis
University, Budapest, Hungary
Familial hypercholesterolaemias represent an important group of
diseases responsible for significant cardiovascular morbidity and
mortality. Sustained elevation of serum cholesterol levels lead to
early onset of acquired atherosclerotic heart disease.
Type II/A familial hyperlipoproteinaemias are inherited autoso-
mal disorders with incomplete penetrance. The manifestation of the
homozygous form is 1:1 000 000. Serum low-density lipoprotein
(LDL) plasmapheresis techniques such as heparin-induced extracor-
poreal LDL-cholesterol (Ch) pheresis (HELP) are useful for control-
ling serum cholesterol and LDL levels. The HELP system completely
removes LDL-Ch, fibrinogen and lipoprotein A (Lp(a)) from the
blood. The treatment is tolerable, safe and effective.
Two cases of the homozygous form of familial hypercholes-
terolaemia were confirmed in childhood in Hungary. The authors
present the case of a 31-year-old man whose valvular aortic steno-
sis was discovered at age 2. In 1989 he was examined because of
xanthomatous skin alterations and familial hypercholesterolaemia
was diagnosed. The extended examination of lipid metabolism
revealed normal level of receptors but decreased function. His aortic
stenosis was operated on at Munich in 1994 and was followed by
regular plasmapheresis and oral statin treatment. He has been on this
combined treatment from 9 years of age and recently he had no sign
of cardiovascular disease!
An 18-year-old girl was examined first at 7 years of age because
of granulomatous and xanthomatous tendon lesions. The extended
examination of lipid metabolism confirmed the homozygous form
of familial hypercholesterolaemia. Her treatment was started with
cholesterol plasmapheresis using the HELP system combined with
esetimide and rasorvastatin therapy. She is on this combined treat-
ment without any sign of cardiovascular disease. The authors
consider it worthwhile to present the two cases because of the young
age of the patients, the unusual presentations of the disease and the
long-term successful therapy by HELP.
1721: LONG-TERM ADVANCED THERAPY IN EISEN-
MENGER SYNDROME: SERIAL RIGHT HEART CATH-
ETERISATION AND 6 MINUTES WALK DISTANCE
Annette Jensen
1
, Lars Idorn
1
, Tim Jensen
2
, Lars Sondergaard
1
1
Department of Cardiology, Rigshospitalet, Copenhagen, Denmark
2
Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark
Background:
Despite similarities in pulmonary vascular changes,
the survival is markedly different between patients with idiopathic
pulmonary arterial hypertension (IPAH) and Eisenmenger syndrome
(ES). Furthermore, while patients with IPAH slowly deteriorate in
spite of advanced therapy (AT) with pulmonary vasodilatators, few
or no data exist regarding long-term effect of AT on haemodynamics
and 6-minute walk distance (6 MWD) in ES. The aim of this study
was to examine this by serial right heart catheterisation (RHC) and
6 MWD.
Methods:
Nineteen adult patients with ES (15 with ventricular septal
defect and 4 with atrial septal defect) were followed for 5 years with
RHC before and after 3 months of AT, and then yearly. 6 MWD was
performed at baseline and then every 6 months.
Results:
None of the patients died or were transplanted during the
study period. RHC revealed a continuous, significant improvement in
pulmonary vascular resistance (PVR) (before AT 29
±
12 vs 5 years
14
±
5.2 Wood units,
p
<
0.0001) and pulmonary blood flow (PBF)
(before AT 2.6
±
1 vs 5 years 4.7
±
1.8 l/min;
p
<
0.0001) over time
after initiation of AT. However, the 6 MWD improved over the first 2
years, and then showed a more fluctuating pattern.
Conclusions:
This study showed that AT is a beneficial but also
long-lasting treatment, which improves both haemodynamics as
well as 6 MWD in ES. Furthermore, these data suggest that despite
inconsistent performance as measured by 6 MWD, a long-lasting
improvement of haemodynamics is obtained by AT. The variation in
6 MWD may be due to conditions such as iron deficiency, which is
known to influence 6 MWD. Finally, RHC is the golden standard in
evaluating the effect of AT, but since ES on AT seems to be stable,
yearly RCH is not necessary, but may instead be performed when
clinical deterioration is present.
1729: LIFE EXPECTANCY AND CAUSES OF DEATH IN A
COHORT OF FONTAN CONVERSION PATIENTS
Barbara Deal
1
, Sabrina Tsao
1
, Gregory Webster
1
, Kendra Ward
1
,
Elfriede Pahl
1
, John Costello
1
, Carl Backer
1
, Constantine Mavroudis
2
1
Divisions of Cardiology and Cardiovascular-Thoracic Surgery, Ann
and Robert H. Lurie Children’s Hospital, Northwestern University
Feinberg School of Medicine, Chicago, Illinois, USA
2
Congenital Heart Institute, Florida Hospital for Children, Orlando,
Florida, USA
Background/hypothesis:
The development of late atrial arrhyth-
mias following Fontan palliations is associated with 3-year mortality
approaching 40% in a recent multi-centre series. Fontan conversion
and arrhythmia surgery (FCAS) is performed with the expectation
that life expectancy would be improved, but the durability of this
circulation is not known. We sought to determine mid-term survival
and causes of death in a large series of patients (pts) following FCAS.
Materials/methods
: Current status of 137 consecutive pts undergo-
ing 138 FCAS at a single institution between 1994 and 2012 was
reviewed. Current status was ascertained by phone interview with
patients or review of physicians’ records. Age at last follow-up, time
to heart transplantation (OHT), and causes of death were assessed.
Results:
Median age at original Fontan surgery was 5.7 yrs (range
1.1–34.9 yrs), and at FCAS was 23.6 yrs (range, 2.6–47.3 yrs).
Ventricular morphology was single left in 100, single right in 13, and
complex/indeterminate in 24 pts. Early operative mortality was 1.5%.
Of 135 early survivors, 16% (22/135) died (13) or underwent OHT
(9). OHT occurred at a mean post-FCAS interval of 31 months; 4/9
died in the peri-transplant period. Of the remaining 13 deaths, 2 died
of non-cardiac causes. Circulatory causes of death included: sudden
(3), congestive heart failure (3), sepsis following urological proce-
dure or defibrillator change (2), renal failure (1), liver failure (1),
and hepatocarcinoma (1). At mean follow-up of 8.6
±
4.2 yrs, total
post-FCAS transplant-free survival is 83%. The mean current age of
113 transplant-free survivors is 32.4
±
6.6 yrs.
Conclusions:
Survival into the 4
th
-6
th
decades of life was achieved in
this population of Fontan pts with predominantly single left ventricu-
lar morphology, posing challenges for ongoing medical surveillance
and management of co-morbidities.
1731: CONGENITALLY CORRECTED TRANSPOSITION OF
GREAT VESSELS IN AYOUNG PREGNANT PATIENT
Mamotabo Matshela
1
1
Inkosi Albert Luthuli Hospital, KwaZulu-Natal, South Africa
Background:
Transposition of great vessels is a rare form of congen-
ital heart defect and occurs in less 1% of patients with congenital
heart disease. Normally the development of ventricular situs occurs
during the 5th week of gestation, when twisting of the primordial
heart tube to right (d-looping) places morphologic right ventricle on
right side of heart and morphologic left ventricle on left side of heart.
Normal development of the great arteries occurs during the 5th to 6th
week of gestation and this is genetically influenced by neural crest
cells. Abnormal development (congenitally corrected transposition
of the great arteries (ccTGA) or l-TGA) results from looping of the
primordial heart tube to the left instead of the right.
Objective/aim
: To show a rare case of a congenitally corrected trans-
position of great vessels in a 27-year-old pregnant patient.
