Open heart surgery in an infant with hereditary spherocytosis
and a review of literature.
Introduction: Hereditary spherocytosis is a rare familial
hemolytic disorder. This disorder involves mutations in genes
responsible for membrane proteins that participate in shape changes by
erythrocyte. It can be either autosomal dominant or recessive trait
[1]. The red blood cells, because of the mutation,
will have an abnormal spheroidal shape with resultant increased osmotic
and mechanical fragility and therefore increased chances of hemolysis
[1]. Cardiopulmonary bypass in these patients
could potentially increase the risk of hemolysis. We describe a case of
a 7 months old child with Down’s syndrome diagnosed with a large Inlet
ventricular septal defect (VSD), secundum atrial septal defect (ASD),
moderate mitral regurgitation, and hereditary spherocytosis, for its
rarity and potential associated complications in this unique situation.
Clinical summary: A 7 months old girl with Down’s syndrome
presented with the diagnosis of large inflow VSD, additional OSASD,
moderate mitral regurgitation, and severe pulmonary hypertension. The
patient had a history of treatment for neonatal jaundice. The child was
diagnosed with hereditary spherocytosis at 3 months following the
evaluation of fever and anemia. There was a pansystolic murmur at the
left 4th intercostal space with a loud pulmonary
component of the second heart sound. There was a large inflow VSD,
additional Secundum ASD, moderate mitral regurgitation with a cleft in
the anterior mitral leaflet, and severe pulmonary hypertension on
echocardiographic examination. At admission, the patient had no clinical
icterus or anemia. The patient had mild compensated hemolytic anemia
suggested by the presence of hyperbilirubinemia with raised serum LDH
(Table -1). Peripheral smear showed mild anisocytosis with many
spherocytes, constituting about 40-50% of RBCs and occasional
polychromatophils (Fig 1). Preoperative hematocrit and reticulocyte
count were in the normal range (Table 1)
Through a standard median sternotomy, cardiopulmonary bypass was
initiated with aorto-bi caval cannulation and mild hypothermia.
Anticipating the increased risk of hemolysis on cardiopulmonary bypass,
a conscious decision was made to avoid hypothermia. 100 ml of blood was
drained for autotransfusion and replaced with fresh frozen plasma before
initiating cardiopulmonary bypass. The CPB circuit consisted of a roller
pump, and in-order to maintain sufficient oncotic pressure, sufficient
RBC and 20% albumin was added to the priming fluid. Ultrafiltration was
used during surgery to maintain the patient’s hematocrit level. The VSD
was closed with a Dacron patch. The cleft in the anterior mitral leaflet
was repaired with intermittent 7-0 prolene sutures. The Secundum ASD was
closed with a tanned pericardial patch. CPB time was 121 min, and ACC
time was 89 mins. Post repair, there was no residual VSD, and mitral
regurgitation was mild. After termination of CPB, Autologous blood of
90ml was transfused. The patient was extubated the next day. The
hematocrit, reticulocyte count, Bilirubin levels, and serum LDH were
serially monitored during ICU stay (Table1). There was a transient rise
in reticulocyte count and serum LDH levels. Postoperatively, there was
no sign of macrohematuria, impaired renal, or hepatic function. The
patient recovered uneventfully and was discharged on the
6th postoperative day.
Discussion : Hereditary spherocytosis in patients requiring
congenital heart surgery is uncommon and poses different problems for
the patient and the clinician. Anaemia secondary to hemolysis can push
patients with cardiac defects to the early development of heart failure
if the congenital heart defect is not repaired early
[2,3]. Cardiopulmonary bypass can accentuate
hemolysis because of the increased fragility of the erythrocytes and
further complicate the procedure. A literature review gives only a few
congenital heart disease cases with hereditary spherocytosis undergoing
open-heart surgery [Table 2][2–6]. Our case
is the only reported infant with hereditary spherocytosis to undergo
open-heart surgery.
To decrease hemolysis risk, the use of a centrifugal pump has been
described in adult patients[7]. A centrifugal pump
may be advisable as it would decrease the shear stress on the fragile
erythrocytes. We used a roller pump, safe use of which has been reported
by Yoshimura et al[5]. Splenectomy before cardiac
surgery has also been described. Kaminishi et al has described
splenectomy before surgical repair of double outlet right ventricle
(DORV)[2]. However, splenectomy in infants is not
recommended due to the increased risk of the procedure and greater
infection risk after the procedure[1]. Kawahira et
al reported a 15- month-old child who underwent open-heart surgery
without a previous splenectomy, and they conclude that splenectomy
before cardiac operations in children with HS may not always be
necessary[3]. Use of non-ionic antihemolytic
detergent poloxamer 188 and haptoglobin has been
reported[2,3,5]. Poloxamer 188 protects the red
cell membrane and prevents the increase of serum-free hemoglobin.
Haptoglobin helps in decreasing the serum-free hemoglobin.
The present case had mild grade hereditary spherocytosis characterized
by the absence of anemia and laboratory evidence of hemolysis. Open
heart surgery was performed at 7 months of age because of the presence
of a large shunt and severe mitral regurgitation. Perioperatively, the
patient did not have any hematuria, and postoperatively patient did not
require blood transfusions. There was no progression in the grade of
hereditary spherocytosis by the lab parameters as well, and the patient
was discharged uneventfully.
To conclude, congenital heart surgeries on CPB can be safely performed
in infants and other pediatric populations with hereditary
spherocytosis. Adequate precautions should be taken to prevent hemolysis
and secondary organ damage following CPB.
References :
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2. Kaminishi Y, Atsumi N, Terada Y, Nakamura K, Gomi S, Mitsui T.
[Anatomic correction of double-outlet right ventricle associated with
hereditary spherocytosis–a case report]. Zasshi J Nihon Kyobu
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doi:10.1253/circj.70.1655
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operation in a patient with hereditary spherocytosis: a case report.Ann Thorac Cardiovasc Surg Off J Assoc Thorac Cardiovasc Surg
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7. Matsuzaki Y, Tomioka H, Saso M, et al. Open-heart surgery using a
centrifugal pump: a case of hereditary spherocytosis. J
Cardiothorac Surg . 2016;11(1):138. doi:10.1186/s13019-016-0534-8.