About: Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy

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About: Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in cardiac sarcomeric proteins. Troponin I (TNNI3) and troponin T (TNNT2) are important parts of the sarcomere in heart muscle, and mutations in their genes are responsible for development of HCM. The prevalence of mutations in these two genes is low; hence, the data on clinical outcome are scarce. Yet, some of these mutations were shown to be malignant with a high incidence of sudden death. Here, we describe the disease course in three families affected with TNNI3 and one family with TNNT2 gene mutations. In TNNI3-HCM, the phenotypic manifestation ranged from clinically silent to sudden cardiac death with the worst prognosis observed in carriers of Ala157Val mutation in exon 7. In contrast, TNNT2-HCM was associated with favorable prognosis. Thus, the findings of the present study add evidence on the phenotypic presentation of this genetic disease. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in cardiac sarcomeric proteins. Troponin I (TNNI3) and troponin T (TNNT2) are important parts of the sarcomere in heart muscle, and mutations in their genes are responsible for development of HCM. The prevalence of mutations in these two genes is low; hence, the data on clinical outcome are scarce. Yet, some of these mutations were shown to be malignant with a high incidence of sudden death. Here, we describe the disease course in three families affected with TNNI3 and one family with TNNT2 gene mutations. In TNNI3-HCM, the phenotypic manifestation ranged from clinically silent to sudden cardiac death with the worst prognosis observed in carriers of Ala157Val mutation in exon 7. In contrast, TNNT2-HCM was associated with favorable prognosis. Thus, the findings of the present study add evidence on the phenotypic presentation of this genetic disease. (en)
Title	Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy (en)
skos:prefLabel	Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy (en)
skos:notation	RIV/00064173:_____/09:#0000043!RIV11-MZ0-00064173
http://linked.open...avai/riv/aktivita	I O P
http://linked.open...avai/riv/aktivity	I, O, P(NR9164)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Widimský, P. Pěnička, M.
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Královské Vinohrady
http://linked.open...dnocenehoVysledku	324171
http://linked.open...ai/riv/idVysledku	RIV/00064173:_____/09:#0000043
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Hypertrophic cardiomyopathy, troponin I, troponon T (en)
http://linked.open.../riv/klicoveSlovo	Hypertrophic cardiomyopathy troponin I troponon T
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[0DF395BDE4CE]
http://linked.open...i/riv/nazevZdroje	Genetic Testing and Molecular Biomarkers
http://linked.open...in/vavai/riv/obor	FA
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Clinical and functional correlates of hypertrophic cardiomyopathy in Czech population
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	13
http://linked.open...iv/tvurceVysledku	Gregor, P. Widimský, P. Pěnička, M. Čurila, K. Benešová, L. Veselka, J. Mynárik, M. Zemánek, D.
issn	1945-0265
number of pages	4 (xsd:int)

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