Matches in SemOpenAlex for { <https://semopenalex.org/work/W2055025344> ?p ?o ?g. }
- W2055025344 endingPage "467" @default.
- W2055025344 startingPage "459" @default.
- W2055025344 abstract "OBJECTIVE To examine the relationship among age, septal morphological subtype, and presence of hypertrophic cardiomyopathy (HCM)-associated myofilament mutations. PATIENTS AND METHODS Comprehensive mutation analysis of the 8 HCM susceptibility genes that encode the myofilaments of the cardiac sarcomere was performed previously in 382 unrelated patients with HCM. Blinded to genotype status, we used echocardiography to characterize the left ventricular morphological features. Multivariate regression was used to assess the relationship among morphological subtypes, clinical data, and genetic variables. RESULTS The mean ± SD age of the patients was 41.6±19.0 years, with 126 patients 50 years or older at initial diagnosis. The septal morphological subtype was sigmoid in 181 (47%), reverse in 132 (35%), apical variant in 37 (10%), and neutral in 32 (8%). The HCM-associated myofilament mutations were identified in 143 patients (37%). Multivariate analysis showed that the reverse curvature septal morphological subtype was a strong predictor of genotype-positive status (odds ratio, 21; P<.001). Overall, the yield of HCM genetic testing was 79% in the setting of reverse curvature HCM but only 8% in sigmoid septal HCM. CONCLUSION In stark contrast to HCM in young patients, elderly patients with HCM display a predominantly sigmoid septal morphological subtype and uncommonly have perturbations of known HCM susceptibility genes. Independent of age, septal morphological subtype strongly predicts the presence or absence of HCM-associated myofilament mutations and may enable echocardiography-guided genetic testing for HCM. To examine the relationship among age, septal morphological subtype, and presence of hypertrophic cardiomyopathy (HCM)-associated myofilament mutations. Comprehensive mutation analysis of the 8 HCM susceptibility genes that encode the myofilaments of the cardiac sarcomere was performed previously in 382 unrelated patients with HCM. Blinded to genotype status, we used echocardiography to characterize the left ventricular morphological features. Multivariate regression was used to assess the relationship among morphological subtypes, clinical data, and genetic variables. The mean ± SD age of the patients was 41.6±19.0 years, with 126 patients 50 years or older at initial diagnosis. The septal morphological subtype was sigmoid in 181 (47%), reverse in 132 (35%), apical variant in 37 (10%), and neutral in 32 (8%). The HCM-associated myofilament mutations were identified in 143 patients (37%). Multivariate analysis showed that the reverse curvature septal morphological subtype was a strong predictor of genotype-positive status (odds ratio, 21; P<.001). Overall, the yield of HCM genetic testing was 79% in the setting of reverse curvature HCM but only 8% in sigmoid septal HCM. In stark contrast to HCM in young patients, elderly patients with HCM display a predominantly sigmoid septal morphological subtype and uncommonly have perturbations of known HCM susceptibility genes. Independent of age, septal morphological subtype strongly predicts the presence or absence of HCM-associated myofilament mutations and may enable echocardiography-guided genetic testing for HCM." @default.
- W2055025344 created "2016-06-24" @default.
- W2055025344 creator A5021233226 @default.
- W2055025344 creator A5038289246 @default.
- W2055025344 creator A5054351656 @default.
- W2055025344 creator A5055125250 @default.
- W2055025344 creator A5055354414 @default.
- W2055025344 creator A5080234509 @default.
- W2055025344 creator A5087026299 @default.
- W2055025344 date "2006-04-01" @default.
- W2055025344 modified "2023-10-16" @default.
- W2055025344 title "Echocardiography-Guided Genetic Testing in Hypertrophic Cardiomyopathy: Septal Morphological Features Predict the Presence of Myofilament Mutations" @default.
- W2055025344 cites W130919722 @default.
- W2055025344 cites W1860649637 @default.
- W2055025344 cites W1962950334 @default.
- W2055025344 cites W1967800726 @default.
- W2055025344 cites W1995131589 @default.
- W2055025344 cites W1995697852 @default.
- W2055025344 cites W1996785634 @default.
- W2055025344 cites W1998134891 @default.
- W2055025344 cites W1999251970 @default.
- W2055025344 cites W2004767153 @default.
- W2055025344 cites W2012739369 @default.
- W2055025344 cites W2013363234 @default.
- W2055025344 cites W2017479742 @default.
- W2055025344 cites W2017981241 @default.
- W2055025344 cites W2021268866 @default.
- W2055025344 cites W2021472574 @default.
- W2055025344 cites W2034904174 @default.
- W2055025344 cites W2034972644 @default.
- W2055025344 cites W2041255585 @default.
- W2055025344 cites W2042562951 @default.
- W2055025344 cites W2048661600 @default.
- W2055025344 cites W2054137999 @default.
- W2055025344 cites W2054853558 @default.
- W2055025344 cites W2061790077 @default.
- W2055025344 cites W2067142765 @default.
- W2055025344 cites W2070163453 @default.
- W2055025344 cites W2076034570 @default.
- W2055025344 cites W2082231490 @default.
- W2055025344 cites W2084822082 @default.
- W2055025344 cites W2087806880 @default.
- W2055025344 cites W2098290823 @default.
- W2055025344 cites W2117464001 @default.
- W2055025344 cites W2120410453 @default.
- W2055025344 cites W2129794513 @default.
- W2055025344 cites W2142803261 @default.
- W2055025344 cites W2151462348 @default.
- W2055025344 cites W2158081637 @default.
- W2055025344 cites W2161676629 @default.
- W2055025344 cites W2165655106 @default.
- W2055025344 cites W2342124050 @default.
- W2055025344 cites W2990123797 @default.
- W2055025344 cites W4244582826 @default.
- W2055025344 cites W4327671141 @default.
- W2055025344 doi "https://doi.org/10.4065/81.4.459" @default.
- W2055025344 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16610565" @default.
- W2055025344 hasPublicationYear "2006" @default.
- W2055025344 type Work @default.
- W2055025344 sameAs 2055025344 @default.
- W2055025344 citedByCount "203" @default.
- W2055025344 countsByYear W20550253442012 @default.
- W2055025344 countsByYear W20550253442013 @default.
- W2055025344 countsByYear W20550253442014 @default.
- W2055025344 countsByYear W20550253442015 @default.
- W2055025344 countsByYear W20550253442016 @default.
- W2055025344 countsByYear W20550253442017 @default.
- W2055025344 countsByYear W20550253442018 @default.
- W2055025344 countsByYear W20550253442019 @default.
- W2055025344 countsByYear W20550253442020 @default.
- W2055025344 countsByYear W20550253442021 @default.
- W2055025344 countsByYear W20550253442022 @default.
- W2055025344 countsByYear W20550253442023 @default.
- W2055025344 crossrefType "journal-article" @default.
- W2055025344 hasAuthorship W2055025344A5021233226 @default.
- W2055025344 hasAuthorship W2055025344A5038289246 @default.
- W2055025344 hasAuthorship W2055025344A5054351656 @default.
- W2055025344 hasAuthorship W2055025344A5055125250 @default.
- W2055025344 hasAuthorship W2055025344A5055354414 @default.
- W2055025344 hasAuthorship W2055025344A5080234509 @default.
- W2055025344 hasAuthorship W2055025344A5087026299 @default.
- W2055025344 hasConcept C126322002 @default.
- W2055025344 hasConcept C164705383 @default.
- W2055025344 hasConcept C174054327 @default.
- W2055025344 hasConcept C207200792 @default.
- W2055025344 hasConcept C2778198053 @default.
- W2055025344 hasConcept C2778797674 @default.
- W2055025344 hasConcept C2780185194 @default.
- W2055025344 hasConcept C71924100 @default.
- W2055025344 hasConceptScore W2055025344C126322002 @default.
- W2055025344 hasConceptScore W2055025344C164705383 @default.
- W2055025344 hasConceptScore W2055025344C174054327 @default.
- W2055025344 hasConceptScore W2055025344C207200792 @default.
- W2055025344 hasConceptScore W2055025344C2778198053 @default.
- W2055025344 hasConceptScore W2055025344C2778797674 @default.
- W2055025344 hasConceptScore W2055025344C2780185194 @default.
- W2055025344 hasConceptScore W2055025344C71924100 @default.
- W2055025344 hasIssue "4" @default.