1. Partial Exchange Transfusion in Polycythemia Secondary to Pulmonary atresia and
Ventricular Septal Defect with Compensated MAPCAS.
By: Muhamad Na’im B. Ab Razak
4th Year Medical Student, Universiti Sains Malaysia
Twelve years old Malay girl who is the youngest out of six siblings is born to a non- consangious
parent, full term via emergency lower segment caesarian section because of maternal
hypertension and one previous c-sec scar. Her weight at birth is 2.55 kg and she breast fed up to
one year. This patient comes from a good socioeconomic family. Patient is a known case of
complex cyanotic heart disease which has been diagnosed since she is five months old after the
mother notice that her baby turns blue. Chest x ray shows boot shape heart. Echocardiography
shows pulmonary atresia and ventricular septal defect. Native Pulmonary could not be visualized
but there are multiple very small collateral vessels. Cardiac catherization shows no native
pulmonary artery but there are multiple collaterals to both lungs. There are four main collaterals
which are 1) from left carotid artery to upper and mid lobe of left lung, 2) from descending aorta
to upper lobe of right lung, 3) from descending aorta to right lower lobe and 4) from abdominal
aorta to right lower lobe. Due to her illness, patient no longer attends school and rest at home.
Until now, patient is on conservative management and undergone partial exchange transfusion
every four months. First partial exchange transfusion is on October 2003 and the last is on June
2009. Now, patient complaint of headache, loss of appetite, nausea and lethargy and cramping of
the legs. Examination reveals central cyanosed, clubbing of the fingers and toes, and grade 3
Pan systolic murmur at left sternal edge. Full blood count shows Hb 21.9 g/dl, Hct 68.7%, Total
white cell count 5.4 X 109/L and platelet count 221 X 109/L. SPO2 under normal air is 81%. She
was then successfully undergone partial exchange transfusion of 400 ml blood.
Discussion
Isolated pulmonary atresia with ventricular septal defect is a rare form of congenital heart
disease, estimated to occur in 10.0/100 000 liveborn infants. The blood supply to the pulmonary
arteries is provided by a patent arterial duct or by major aortopulmonary collateral arteries
(MAPCAs), which can vary greatly in number and site of origin. [S Vesel et al]. The incidence is
increase with the presence of chromosomal defect of 22q11.2 deletion.
Without treatment only about 10- 50% of children born with congenital anomalies of the heart or
vascular system would survive beyond puberty. 20-25% died in the neonatal period and 50 to
60% died in the first year [Jane Somerville]. However, Medical and surgical advances have led
to a dramatic decrease in mortality among patients with congenital heart disease, with the vast
majority surviving to adulthood [D A Lane et al]

2. Erythrocytosis or polycythemia of chronic hypoxemia is a physiological response to tissue
hypoxia whereby erythropoietin stimulates increase in production of circulating red blood cell by
bone marrow in order to enhance oxygen carrying capacity. These will also resulting in increase
erythrocyte mass, hematocrit and whole blood viscosity. Failure of this adaptive mechanism may
impairs oxygen delivery and nullify the beneficial effect of erythrocytosis. The most common
complication of blood hyperviscosity in cyanotic heart disease patient is cerebral infarction
which is due to increase in biosynthesis of thromboxane A2 and increase in ratio of thromboxane
A2 to prostacyclin that favors vasoconstriction and platelet aggregation.
Polycythaemic cyanotic patients experience symptoms caused by the detrimental effects of
hyperviscosity on tissue oxygen delivery rather than by a high hematocrit itself. The symptoms
include headache, faintness and dizziness, blurred vision, amaurosis fugax, fatigue, myalgia,
muscle weakness, paraesthesia, depressed mentation, sense of distance and chest and abdominal
pain. [S.A Thorne]
Traditionally, Polycythemia has been defined as a venous hematocrit over 65%. This cut off was
chosen based on the observation that blood viscosity exponentially increased above a hematocrit
of 65% [Soll R et al].
Erythrocytosis can be relieved by controlled venesection and appropriate volume replacement.
However, overzealous in treatment or neglecting of volume replacement may give rise to
problems. In such patients, thrombosis or hemorrhage readily develops in response to trauma.
They may have gout (which may still be diagnosed as whitlows in some casualty departments);
renal problems leading to anuria in response to fluid restriction; skin sepsis from chronic acne;
and chronic arthropathy in the ankles and knees, which may be their major complaint. Relative
anaemia, which may be caused by excessive venesection, gastric bleeding, or bad nutrition, may
escape notice and cause worsening symptoms or heart failure in sinus rhythm [Jane Somerville]
According to P J Oldershaw, Acute reduction in hematocrit in patient with severe polycythemia
secondary to cyanotic congenital heart disease resulted in an increase in resting cardiac output
without alteration in heart rate. Cardiac output was also increased during a constant-load exercise
test after hematocrit reduction, and under these conditions total oxygen uptake was increased
with consequent reduction in oxygen debt
The “gold standard” measurement of viscosity uses a whole blood viscometer that can accurately
measure the viscosity of blood at the low shear rates that occur naturally in the capillary
circulation [Soll R et al]. However, since it is not widely available, therefore hematocrit
measurement can be used as a screening test. Value of hematocrit over 65% can be an indicator
to start Partial exchange transfusion (PET)

3. PET is traditionally used as the method to lower the hematocrit and treat hyperviscosity. PET is
performed with either crystalloid (normal saline) or colloid (5% albumen) solutions. The volume
to be exchanged is based on the observed and desired hematocrit (usually 55%). PET has been
shown to reduce pulmonary vascular resistance and increase cerebral blood viscosity. [Soll R et
al]. Volume to be exchanged may be calculated by using this simple equation
Volume (mL) = (Initial Hct – Desired Hct) x Patient’s Blood volume
Initial Hct
Patient’s blood volume = Weight (kg) x 80
Reported complications in whole blood exchange include infections, cardiac arrhythmia,
thrombosis, emboli, vessel perforation, necrotizing enterocolitis, accidental hemorrhage, air
embolus, hypothermia, reduction in blood pressure and cerebral blood flow fluctuation and even
death. Full exchange transfusion is expected to have a higher incidence of complications than
PET, since the amount of blood to be exchanged is almost nine times higher and the product
utilized for the exchange is donor’s blood. Most of these complications can be avoided by
performing the procedure carefully, while monitoring vital signs and adjusting to a standard
protocol [Soll R et al]
According to Dempsey Eugene M et al, in choosing the fluid for PET, there is no reported
important difference in short-term physiologic effects between crystalloid and colloid. Use of
crystalloid was as effective as colloid in both correction of hematological values and reduction of
clinical symptoms following partial exchange transfusion. When crystalloid solutions are used
for this purpose, there is no risk of transmission of blood-borne diseases and anaphylaxis, rapid
and easily available, and are less expensive.
Besides phlebotomy and partial exchange blood transfusion, study also shows other method to
overcome polycythemia in Cyanotic Heart Disease patients. Ulrike M. Reiss et al has reported a
successful approach in treating for patients by using hydroxyurea therapy. According to his
literature, Hydroxyurea (hydroxycarbamide) is an S-phase specific chemotherapeutic agent that
inhibits ribonucleotide reductase, and thus interferes with the production of DNA precursors
required for cell replication and nuclear maturation. Hydroxyurea therapy for secondary
erythrocytosis should therefore lower blood viscosity by reducing RBC count and hematocrit
through marrow suppression, while simultaneously improving oxygen-carrying capacity per
erythrocyte by increasing the MCV and MCH
There is a various surgical approach made by many centers to correct this congenital problems.
However, long term prognosis at most medical centers has not been satisfactory. [JS Bang et al]

4. Other care for cyanotic heart disease patient includes to avoid hemoglobin concentration less
than 10.6 mmol/l in patient with oxygen saturation < 90%, avoid iron deficiency which
associated with increased risk for stroke and bubble traps or air filters in any IV lines to prevent
paradoxical emboli. Study by F Walker et al also shows that therapy with 40% oxygen
supplementation in adults with cyanotic congenital heart disease at home may reduce
erythrocytosis and have a beneficial impact on quality of life and level of symptoms.
There is a need for intervention to improve the quality of life in cyanotic heart disease patient. A
study done by D A Lane et al shows that patients with inoperable or cyanotic conditions and,
paradoxically, those deemed surgically cured, had the poorest quality of life among adults with
congenital heart disease. However, all adults with congenital heart disease had significantly
poorer levels of physical functioning and overall general health perception then similarly aged
people in the general population.
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