Identification of Myofilament Mutations: Its Role in the Diagnosis and Management of Hypertrophic Cardiomyopathy
- Echocardiography-Guided Genetic Testing in Hypertrophic Cardiomyopathy: Septal Morphological Features Predict the Presence of Myofilament Mutations. Binder, Josepha; Ommen, Steve R.; Gersh, Bernard J.; Van Driest, Sara L.; Tajik, A. Jamil; Nishimura, Rick A.; Ackerman, Michael J. // Mayo Clinic Proceedings;Apr2006, Vol. 81 Issue 4, p459
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...
- Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy. Olivotto, Iacopo; Girolami, Francesca; Ackerman, Michael J.; Nistri, Stefano; Bos, J. Martijn; Zachara, Elisabetta; Ommen, Steve R.; Theis, Jeanne L.; Vaubel, Rachael A.; Re, Federica; Armento, Corinna; Poggesi, Corrado; Torricelli, Francesca; Cecchi, Franco // Mayo Clinic Proceedings;Jun2008, Vol. 83 Issue 6, p630
OBJECTIVE: To determine the influence of a positive genetic test for hypertrophic cardiomyopathy (HCM) on clinical outcome. PATIENTS AND METHODS: A cohort of 203 unrelated patients with HCM (mean Â± SD age, 50Â±18 years) was enrolled from January 1, 2002, through December 31, 2003. They were...
- Molecular mechanisms of cardiac myofilament activation: modulation by pH and a troponin T mutant R92Q. Solaro, R. John; Varghese, Jamie; Marian, A. J.; Chandra, Murali // Basic Research in Cardiology;May2002 Supplement 1, Vol. 97, pI102
Activation of cardiac myofilaments is a complex process involving steric, allosteric, and cooperative mechanisms. The complexity of the protein-protein interactions that result in the rise and fall of tension in the heartbeat provide many points that may be modified by various control...
- Hypertrophic Cardiomyopathy: A New Mutation Illustrates the Need for Family-Centered Care. Lee, Daniel; Veith, Regan; Dimmock, David; Samyn, Margaret // Pediatric Cardiology;Dec2014, Vol. 35 Issue 8, p1474
This is a case series of a family positive for a previously undescribed mutation in the myofilament gene MYH7, causing hypertrophic cardiomyopathy (HCM), a potentially lethal cardiac disease with strong hereditability. The family's significant disease became strikingly apparent with the...
- B-TYPE NATRIURETIC PEPTIDE PREDICTS DISEASE SEVERITY IN CHILDREN WITH HYPERTROPHIC CARDIOMYOPATHY. // Heart;Jul2008 Supp, Vol. 94, pA86
An abstract of the article "B-Type Natriuretic Peptide Predicts Disease Severity in Children With Hypertrophic Cardiomyopathy," by J. P. Kaski, A. Pantazis, J. Marek, and colleagues is presented.
- REDUCED TWISTING OF THE LEFT VENTRICLE IN PATIENTS WITH SYMPTOMATIC NON-OBSTRUCTIVE HYPERTROPHIC CARDIOMYOPATHY: A STUDY USING TWO-DIMENSIONAL SPECKLE TRACKING IMAGING. // Heart;Jul2008 Supp, Vol. 94, pA103
An abstract for the article "Reduced Twisting of the Left Ventricle in Patients With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy: A Study Using Two-Dimensional Speckle Tracking Imaging," by T.T. Phan, P. Elliot, H. Watkins and colleagues is presented.
- The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy. Jørgenrud, Benedicte; Jalanko, Mikko; Heliö, Tiina; Jääskeläinen, Pertti; Laine, Mika; Hilvo, Mika; Nieminen, Markku S.; Laakso, Markku; Hyötyläinen, Tuulia; Orešič, Matej; Kuusisto, Johanna // PLoS ONE;8/12/2015, Vol. 10 Issue 8, p1
Aims: Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of mutation carriers with the HCM-causing...
- â€˜(De-)sensitizationâ€™ vs. â€˜Uncouplingâ€™: what drives cardiomyopathies in the thin filament? Hwang, Peter M. // Cardiovascular Research;Jan2016, Vol. 109 Issue 1, p185
No abstract available.
- â€˜(De-)sensitizationâ€™ vs. â€˜Uncouplingâ€™: what drives cardiomyopathies in the thin filament? Reply. Marston, Steven; Messer, Andrew; Papadaki, Maria // Cardiovascular Research;Jan2016, Vol. 109 Issue 1, p187
No abstract available.