Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk

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dc.authorid
dc.contributor.authorDamar, Ibrahim Halil
dc.contributor.authorEröz, Recep
dc.date.accessioned2021-12-01T18:22:28Z
dc.date.available2021-12-01T18:22:28Z
dc.date.issued2019
dc.department[Belirlenecek]en_US
dc.description.abstractObjective: Myotonia Congenita (MC) is a hereditary neuromuscular disorder caused by a muta-tion in chloride voltage-gated channel 1 (CLCN1) gene. The incidence of MC is estimated as 1 in 100.000. The absence of left main coronary artery (LMCA) is a rare coronary anomaly. Here we present a family with four members who have MC variation carrier and cardiovascular risk.Method: The demographic features, laboratory findings, anthropometric measurements and car-diological examination of the cases were recorded. In addition, CLCN1 gene was sequenced by NGS (Next Generation Sequencing Method) and possible causes of inherited thrombophilia risk including MTHFR (A1298C), Factor V Leiden (G1691A), Factor II (G20210A), MTHFR (C677T), Factor V Cambridge (G1091C), plasminogen activator inhibitor 1 (PAI-1) 4G/5G, APOE, APOB, ITGB, ACE (ins/del), FVHR2 and FGB gene alterations were evaluated.Results: Case 1 had homozygous c.1886T>C (p.Leu629Pro) alteration in CLCN1 gene and also coronary artery disease, myocardial infarction (MI) history, hyperlipidemia, primary hyperten-sion, vertigo, lomber disc herniation and hearing loss. LMCA was not detected in coronary angiography in Case 1. Cases 2, 3 and 4 had heterozygous c.1886T>C (p.Leu629Pro) altera-tion with normal electrocardiographic and echocardiographic findings. Additionally, all of family members had genetic risk factors for the related gene, which lead to an increased risk of cardio-vascular disease.Conclusion: Since alteration of chloride channels in cardiomyocytes leads to variable myocardial involvement, cases with MC should be regularly followed for cardiovascular risk. Moreover, the cases with MC and with genetic profile associated with high cardiovascular risk should also be regularly followed up by cardiologists.en_US
dc.identifier.doi10.5222/MMJ.2019.93357
dc.identifier.endpage379en_US
dc.identifier.issn2149-2042
dc.identifier.issn2149-4606
dc.identifier.issue4en_US
dc.identifier.startpage374en_US
dc.identifier.urihttps://doi.org/10.5222/MMJ.2019.93357
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TXpnek5qazRPQT09
dc.identifier.urihttps://hdl.handle.net/20.500.12684/9489
dc.identifier.volume34en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofMedeniyet Medical Journalen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keywords]en_US
dc.titleEvaluation of Cases with Myotonia Congenita for Cardiovascular Risken_US
dc.typeArticleen_US

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