A Case of Uncorrected Tetralogy of Fallot Undiagnosed presenting With Polycythemia on Rural

area in south-east Asia setting

Abstract
One of several hypoxia-related causes of acquired secondary polycythemia is congenital heart
problems with a right-to-left shunt (SP). The most typical congenital cyanotic cardiac condition
in children is Tetralogy of Fallot (ToF). In rural, isolated areas, congenital heart disease is hard
to diagnose because of a lack of education and socioeconomic problems. This paper reports a
boy with symptoms several times had bluish on lip, fingertips, and toes but refused to get
treatment on the first time this condition was discovered.

Case Report

An 8-year-old boy was admitted to Nusa Tenggara Province general hospital with blue lips,
fingertips, and toes (fig. 1). Complaints have been heard for the past five months. The patient's
bluish color stays and will worsen if they are active or do not get adequate rest. After walking
several tens of meters or being exhausted, such as when they cry, patients frequently bend their
knees to their chest. After bending his knees, the patient feels more at ease. The patient also
complains of being easily weary, and when he tears for an extended period, he turns blue, and his
respiration becomes rapid and deep. When he wakes up in the morning, this does not happen.
Furthermore, the patient reported peeling skin on the palms of his hands and burning eyes in both
eyes. Initially, the patient's mother became aware of the problem five months ago. The patient
was taken to the doctor's office, suspected of having congenital heart disease due to her clubbed
fingers.
As a result, the doctor was instructed to travel to a high-quality health facility to obtain a
recommendation letter for Gerung Hospital. Despite being referred, the patient has not gotten
any treatment due to a lack of education and facilities. Other problems, such as loss of
consciousness, shortness of breath, coughing, excessive perspiration, convulsions, a prominent
left chest, or difficult-to-heal wounds, are also disputed. On physical examination, he had a blood
pressure of 115/85 mm Hg, a pulse rate of 82 beats per minute, and a respiratory rate of 24 beats
per minute. There were perioral cyanosis and a 3/6 pan systolic murmur in the mesocardiac area
on cardiac assessment. The following blood tests were performed: Hgb: 21.4 g/dL, Hct: 63
percent, MCV: 74,0 f/L, MCH: 25,1 pg, MCHC: 34.0 g/dL, platelet: 297,000/L, WBC: 8,050/L,
RBC: 8,51 x 106/L, platelet: 297,000/L, WBC: 8,050/L, RBC: 8,51 x 106/L, platelet An
electrocardiogram revealed sinus rhythm with right axis deviation and right atrial enlargement,
with peak P waves on P >2,5 mm in lead II inferior and P >1,5 mm in leads V1 and V2. Chest x-
ray presenting boot-shaped heart appearance (fig. 2). Echocardiography indicated a 60 percent
ejection fraction with normal left ventricular systolic function, a perimembranous ventricular
septal defect (VSD), aortic extraposition, right ventricular dilation, hypertrophy, and significant
pulmonary infundibular stenosis. The cardiac catheterization can’t be performed because we
don’t have any source, we want to refer the patient to a bigger hospital to do a cardiac
catheterization and total corrective surgery but the patient and family disagree because of
socioeconomic problems. so in our facility, we only can perform a phlebotomy control visit 1
months later the following laboratory data were obtained: Hgb: 17.5 g/dL, Hct: 57.2%, MCV:
75.7 f/L, MCH: 24.1 pg, MCHC: 30.3 g/dL, platelet: 249,000/μL, WBC: 8,400/μL, RBC: 7.29 ×
106/μL. We try to educate the patient family but still the patient family doesn’t want any surgery
or invasive procedure.

Figure 1 Clubbing finger presenting from physical examination on the patient.

Figure 2 Chest x-ray presenting boot-shaped heart appearance

Discussion

cyanotic congenital heart disease (CCHD) secondary erythrocytosis is distinct from

polycythemia vera primary erythrocytosis (PV). Treatment guidelines propose keeping
hematocrit 45 percent or below in PV patients[1]. Unlike PV patients, who present with
panmyelosis and raised red, white, and platelet counts, CCHD patients present with
erythrocytosis and a normal or low normal platelet count[2]. Congenital cardiac abnormalities
with a right-to-left shunt are one of the hypoxia-related causes of secondary polycythemia
acquired (SP). SP that is erythropoietin-mediated and hypoxia-dependent is defined by a raised
erythropoietin level in the presence of increased Hgb. In SP that is not dependent on hypoxia, on
the other hand, erythropoietin levels normalize following an increase in Hgb levels[3].
Our patient, an 8-year-old kid diagnosed with ToF for the first time, had a slightly
elevated erythropoietin level. Serum erythropoietin levels cannot accurately differentiate SP
causes. In cases of acquired SP, the primary laboratory test should be arterial hemoglobin oxygen
saturation (SO2 percent). When no central disease linked with hypoxia can be diagnosed, renal
and central nervous system imaging (in an attempt to discover an erythropoietin secreting tumor)
should be examined.
SP has significantly fewer thrombotic and non-thrombotic consequences than
polycythemia vera. Thus, preventive phlebotomy is advised in SP when the target Hct level is
higher (65%) than the target level for polycythemia vera (40-45%) and when symptoms are
moderate to severe [3]. The research described an adult patient with uncorrected ToF and SP who
needed regular phlebotomy procedures despite having a Hct level of 65%. We ruled out
phlebotomy in our patient since she lacked signs or symptoms of hyperviscosity, thrombotic or
non-thrombotic consequences, and a Hct level of more than 65 percent[3,4].
In a new ESC guideline to treat patients with chronic congenital heart problems the initial
corrective surgery is a must but in a rural area to diagnose patients with a congenital heart
problem was unique because of the lack of education and source patients always miss diagnose
and live with a CCHD until adulthood and a lot of patients died without knowing that they might
have congenital heart disease and that make us doctor who lives in a rural area need to think
more how to educate patient and give the best treatment to the patient [6].

Conclusion
Although ToF is typically associated with cyanosis in kids. As previously reported, the
optimum treatment option is early total corrective surgery[6]. The majority of untreated patients
will almost certainly die during their infancy. The major causes of death include pulmonary
embolism, brain abscess, and thromboembolic events. On the other hand, individuals who
undergo comprehensive corrective surgery have an excellent long-term survival prognosis, with
an 85 percent 35-year survival rate. A patient who lived in a rural area and is isolated with a
minimum of education and the socioeconomic problem has doubled problem we need to think
how to treat and help to provide the best decision and comprehensive treatment to help them
have a better quality of life.
 references

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