Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study

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dc.authoridOkuturlar, Yildiz/0000-0002-1994-0014
dc.authorscopusid57195683097
dc.authorscopusid55810763400
dc.authorscopusid9242258800
dc.authorscopusid56769801000
dc.authorscopusid57219020945
dc.authorscopusid57845584000
dc.authorscopusid57211837783
dc.authorwosidOkuturlar, Yildiz/X-3647-2018
dc.contributor.authorYeşilaltay, Alpay
dc.contributor.authorDeğirmenci, Hasan
dc.contributor.authorBilgen, Türker
dc.contributor.authorŞirin, Duygu Yaşar
dc.contributor.authorBayır, Duygu
dc.contributor.authorDeğirmenci, Pelin
dc.contributor.authorTurgut, Burhan
dc.date.accessioned2023-04-20T08:01:17Z
dc.date.available2023-04-20T08:01:17Z
dc.date.issued2022
dc.departmentRektörlüğe Bağlı Bölümler, Rektörlük, Bilimsel ve Teknolojik Araştırmalar Uygulama ve Araştırma Merkezi
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.departmentYüksekokullar, Sağlık Yüksekokulu, Beslenme ve Diyetetik Bölümü
dc.description.abstractBackground: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four patients with idiopathic erythrocytosis (mean age, 46.4 +/- 2.7 years) and 30 age-matched healthy subjects were prospectively evaluated. The regions of interest of the erythropoietin receptor, hemoglobin beta-globin, von Hippel-Lindau, hypoxia-inducible factor 2 alpha, and Egl-9 family hypoxia-inducible factor genes were amplified by PCR. Left ventricular (LV) mass was measured by M-mode and 2-dimensional echocardiography. LV diastolic functions were assessed by conventional echocardiography and tissue Doppler imaging. Results: As a result of genetic analyses, genetic mutations for familial erythrocytosis were detected in 5 patients. It has been observed in our study that the risk of cardiovascular disorders is higher in patients. Interventricular septum thickness, left atrial diameter, and some diastolic function parameters such as deceleration time and isovolumetric relaxation time have been found to be significantly higher in idiopathic erythrocytosis group than in the controls. Conclusion: This study has shown that LV diastolic functions were impaired in patients with idiopathic erythrocytosis. In this patient group with increased risk of cardiovascular disorders, the frequent genetic mutations have been detected in 5 patients only. Therefore, further clinical investigations are needed as novel genetic mutations may be discovered in patients with idiopathic erythrocytosis because of cardiovascular risk.
dc.description.sponsorshipscientific and technological research council of Turkey [Tubitak-215S524]
dc.description.sponsorshipThis research was funded by scientific and technological research council of Turkey (Tubitak-215S524).
dc.identifier.doi10.1097/MD.0000000000029881
dc.identifier.issn0025-7974
dc.identifier.issn1536-5964
dc.identifier.issue32en_US
dc.identifier.pmid35960118
dc.identifier.scopus2-s2.0-85135977638
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://doi.org/10.1097/MD.0000000000029881
dc.identifier.urihttps://hdl.handle.net/20.500.11776/10848
dc.identifier.volume101
dc.identifier.wosWOS:000839733700028
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBilgen, Türker
dc.institutionauthorŞirin, Duygu Yaşar
dc.institutionauthorBayır, Duygu
dc.institutionauthorDeğirmenci, Pelin
dc.institutionauthorTurgut, Burhan
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofMedicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCardiovascular Diseases
dc.subjectMutation
dc.subjectPolycythemia
dc.subjectVentricular Function
dc.subjectPolycythemia-Vera
dc.subjectHeart-Failure
dc.subjectFamilial Polycythemia
dc.subjectAssociation
dc.subjectDysfunction
dc.subjectPrevalence
dc.subjectEchocardiography
dc.subjectPathogenesis
dc.subjectMechanisms
dc.subjectDiagnosis
dc.titleEffects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study
dc.typeArticle

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