FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2904169516> ?p ?o ?g. }

• W2904169516 endingPage "179" @default.
• W2904169516 startingPage "173" @default.
• W2904169516 abstract "Background We present an ancillary study of the Portuguese Registry of Hypertrophic Cardiomyopathy (PRo-HCM). This is one of the largest HCM genetic studies based on a registry. Methods and results Collected genetic variants were re-analysed for pathogenicity. Demographic, clinical, imaging and outcome data were analysed for associations with genotype, focusing on comparisons between patients with (G+) vs without (G−) a pathogenic/likely pathogenic (P/LP) variant in one the 9 main causal sarcomeric genes. From the 1042 patients in the registry, 528 (51%) had genetic testing. 152 (28%) were G+ and 98 pts. (19%) had variants of unknown significance. From the patients with the 9 mentioned genes sequenced (424 pts), 14.6% had P/LP variants in MYBPC3, 8.7% MYH7, 4.5% TNNT2, 1.7% TNNI3. Patients were 51 ± 16 years-old, 59% males. Genotype was associated with the following: birthplace (p = 0.005); age (p < 0.001); family history of HCM (p < 0.0005); hypertension (p < 0.0005); chest pain (p = 0.015); pattern of hypertrophy (p = 0.006); left ventricular hypertrophy on the ECG (p < 0.0005); family history of sudden cardiac death (SCD) (p = 0.002). G+ patients more frequently had more than one risk factor for SCD (p = 0.002) and a higher ESC-SCD risk score (p = 0.003). In survival analysis, G+ was associated with SCD (p = 0.017) and MYH7+ with LV systolic dysfunction (p = 0.038). Conclusion Half of the registry patients had genetic testing. Sarcomere-positive patients had distinct demographics, ECG, imaging characteristics and family history and are at increased risk of SCD. The presence of a MYH7 mutation was associated with evolution towards LV systolic dysfunction." @default.
• W2904169516 created "2018-12-22" @default.
• W2904169516 creator A5011960733 @default.
• W2904169516 creator A5031484534 @default.
• W2904169516 creator A5034263910 @default.
• W2904169516 creator A5039330490 @default.
• W2904169516 date "2019-03-01" @default.
• W2904169516 modified "2023-10-16" @default.
• W2904169516 title "Genetic characterization and genotype-phenotype associations in a large cohort of patients with hypertrophic cardiomyopathy – An ancillary study of the Portuguese registry of hypertrophic cardiomyopathy" @default.
• W2904169516 cites W2038358909 @default.
• W2904169516 cites W2051978340 @default.
• W2904169516 cites W2057003164 @default.
• W2904169516 cites W2063765763 @default.
• W2904169516 cites W2097618980 @default.
• W2904169516 cites W2114663889 @default.
• W2904169516 cites W2120426463 @default.
• W2904169516 cites W2145233704 @default.
• W2904169516 cites W2171649986 @default.
• W2904169516 cites W2174602966 @default.
• W2904169516 cites W2190288765 @default.
• W2904169516 cites W2469018802 @default.
• W2904169516 cites W2517515998 @default.
• W2904169516 cites W2527407693 @default.
• W2904169516 cites W2557981253 @default.
• W2904169516 cites W2745956749 @default.
• W2904169516 cites W2783754670 @default.
• W2904169516 cites W2788655599 @default.
• W2904169516 cites W2794984094 @default.
• W2904169516 doi "https://doi.org/10.1016/j.ijcard.2018.12.012" @default.
• W2904169516 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30554928" @default.
• W2904169516 hasPublicationYear "2019" @default.
• W2904169516 type Work @default.
• W2904169516 sameAs 2904169516 @default.
• W2904169516 citedByCount "25" @default.
• W2904169516 countsByYear W29041695162019 @default.
• W2904169516 countsByYear W29041695162020 @default.
• W2904169516 countsByYear W29041695162021 @default.
• W2904169516 countsByYear W29041695162022 @default.
• W2904169516 countsByYear W29041695162023 @default.
• W2904169516 crossrefType "journal-article" @default.
• W2904169516 hasAuthorship W2904169516A5011960733 @default.
• W2904169516 hasAuthorship W2904169516A5031484534 @default.
• W2904169516 hasAuthorship W2904169516A5034263910 @default.
• W2904169516 hasAuthorship W2904169516A5039330490 @default.
• W2904169516 hasConcept C104317684 @default.
• W2904169516 hasConcept C126322002 @default.
• W2904169516 hasConcept C135763542 @default.
• W2904169516 hasConcept C164705383 @default.
• W2904169516 hasConcept C2775935837 @default.
• W2904169516 hasConcept C2776002628 @default.
• W2904169516 hasConcept C2778198053 @default.
• W2904169516 hasConcept C2778797674 @default.
• W2904169516 hasConcept C2780185194 @default.
• W2904169516 hasConcept C2780673598 @default.
• W2904169516 hasConcept C2781179581 @default.
• W2904169516 hasConcept C53345823 @default.
• W2904169516 hasConcept C54355233 @default.
• W2904169516 hasConcept C71924100 @default.
• W2904169516 hasConcept C72563966 @default.
• W2904169516 hasConcept C74581901 @default.
• W2904169516 hasConcept C84393581 @default.
• W2904169516 hasConcept C86803240 @default.
• W2904169516 hasConceptScore W2904169516C104317684 @default.
• W2904169516 hasConceptScore W2904169516C126322002 @default.
• W2904169516 hasConceptScore W2904169516C135763542 @default.
• W2904169516 hasConceptScore W2904169516C164705383 @default.
• W2904169516 hasConceptScore W2904169516C2775935837 @default.
• W2904169516 hasConceptScore W2904169516C2776002628 @default.
• W2904169516 hasConceptScore W2904169516C2778198053 @default.
• W2904169516 hasConceptScore W2904169516C2778797674 @default.
• W2904169516 hasConceptScore W2904169516C2780185194 @default.
• W2904169516 hasConceptScore W2904169516C2780673598 @default.
• W2904169516 hasConceptScore W2904169516C2781179581 @default.
• W2904169516 hasConceptScore W2904169516C53345823 @default.
• W2904169516 hasConceptScore W2904169516C54355233 @default.
• W2904169516 hasConceptScore W2904169516C71924100 @default.
• W2904169516 hasConceptScore W2904169516C72563966 @default.
• W2904169516 hasConceptScore W2904169516C74581901 @default.
• W2904169516 hasConceptScore W2904169516C84393581 @default.
• W2904169516 hasConceptScore W2904169516C86803240 @default.
• W2904169516 hasFunder F4320327235 @default.
• W2904169516 hasFunder F4320333587 @default.
• W2904169516 hasLocation W29041695161 @default.
• W2904169516 hasLocation W29041695162 @default.
• W2904169516 hasOpenAccess W2904169516 @default.
• W2904169516 hasPrimaryLocation W29041695161 @default.
• W2904169516 hasRelatedWork W1977980456 @default.
• W2904169516 hasRelatedWork W2000243941 @default.
• W2904169516 hasRelatedWork W2034904174 @default.
• W2904169516 hasRelatedWork W2090830605 @default.
• W2904169516 hasRelatedWork W2142803261 @default.
• W2904169516 hasRelatedWork W2416367674 @default.
• W2904169516 hasRelatedWork W3120260050 @default.
• W2904169516 hasRelatedWork W4225003119 @default.
• W2904169516 hasRelatedWork W4240770017 @default.
• W2904169516 hasRelatedWork W4307157266 @default.
• W2904169516 hasVolume "278" @default.
• W2904169516 isParatext "false" @default.

• next