2014
DOI: 10.14740/cr374e
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A Case of Uncorrected Tetralogy of Fallot Undiagnosed Until Adulthood and Presenting With Polycythemia

Abstract: Congenital heart defects with right-to-left shunt are one of the hypoxia-related causes of acquired secondary polycythemia (SP). Tetralogy of Fallot (ToF) is the most common congenital cyanotic heart disease in children. Cases of uncorrected ToF in adult ages are rare. This paper reports a woman detected with elevated hemoglobin level during routine tests performed for infertility therapy and subsequently diagnosed SP with related ToF.

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Cited by 9 publications
(7 citation statements)
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“…Despite an increased Hb level, erythropoietin-mediated and hypoxia-dependent polycythemia is characterized by an elevated erythropoietin level (Sirhan et al, 2005). In the study of (Gunduz et al, 2014), the results found an increase in the RBC 7 × 10 6 /μL, PCV 64.4%, Hg 21.5 g/dL in adult females with uncorrected TOF. A physiological reaction to tissue hypoxia is secondary erythrocytosis associated with cyanotic congenital heart disease, resulting in a rise in serum erythropoietin level, stimulating bone marrow erythropoiesis, resulting in increased red cell mass, PCV, and viscosity of the whole blood (Territo andRosove, 1991, Warrell et al, 2003).…”
Section: Discussionmentioning
confidence: 89%
“…Despite an increased Hb level, erythropoietin-mediated and hypoxia-dependent polycythemia is characterized by an elevated erythropoietin level (Sirhan et al, 2005). In the study of (Gunduz et al, 2014), the results found an increase in the RBC 7 × 10 6 /μL, PCV 64.4%, Hg 21.5 g/dL in adult females with uncorrected TOF. A physiological reaction to tissue hypoxia is secondary erythrocytosis associated with cyanotic congenital heart disease, resulting in a rise in serum erythropoietin level, stimulating bone marrow erythropoiesis, resulting in increased red cell mass, PCV, and viscosity of the whole blood (Territo andRosove, 1991, Warrell et al, 2003).…”
Section: Discussionmentioning
confidence: 89%
“…Chronic hypoxemia due to right to left shunt leads to polycythaemia and consequently increased viscosity of blood. 2 Infective endocarditis and brain abscess are uncommon presentations of tetralogy of Fallot. 3,4 Although these two are uncommon presentations, they are serious and require prolonged hospitalization and treatment, and poses threat to life.…”
Section: Introductionmentioning
confidence: 99%
“…If undetectable, Doppler ultrasound examinations should be performed and followed by multidetector computed tomography angiography or magnetic resonance-angiography. In addition, we would recommend that such patients undergo specific assessments for congenital heart diseases, such as tetralogy of Fallot [ 11 ], pulmonary stenosis [ 12 ], transposition of the great arteries [ 13 ] and other extra cardiac congenital diseases. Late diagnosis, due to the clinician’s lack of awareness of the disorder, can expose the patient to the risk of major complications and impaired long-term survival.…”
mentioning
confidence: 99%