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1. Full Text Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death
by Nyegaard, Mette and Overgaard, Michael T and Sondergaard, Mads T and Vranas, Marta and Behr, Elijah R and Hildebrandt, Lasse L and Lund, Jacob and Hedley, Paula L and Camm, A. John and Wettrell, Göran and Fosdal, Inger and Christiansen, Michael and Borglum, Anders D
American journal of human genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 703 - 712
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Medical genetics | Biological and medical sciences | Intensive care medicine | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Emergency and intensive care: neonates and children. Prematurity. Sudden death | Amino Acid Sequence | Calmodulin - genetics | Genetic Predisposition to Disease | Syncope - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Death, Sudden, Cardiac - etiology | Mutation, Missense | Young Adult | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Tachycardia, Ventricular - genetics | Adult | Chromosomes, Human, Pair 14 | Female | Heterozygote | Calcium Channels - genetics | Child | Arrhythmias, Cardiac - genetics | Gene mutations | Cardiac arrest | Causes of | Ventricular tachycardia | Genetic aspects | Research | Health aspects | Calmodulin | Heart attacks | Exercise | Genetic disorders | Mutation | Calcium | Chromosomes | Index Medicus | Report | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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2. Full Text Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations
by Bauce, Barbara, MD, PhD and Rampazzo, Alessandra, PhD and Basso, Cristina, MD, PhD and Mazzotti, Elisa, MD, PhD and Rigato, Ilaria, MD, PhD and Steriotis, Alexandros, MD, PhD and Beffagna, Giorgia, PhD and Lorenzon, Alessandra, PhD and De Bortoli, Marzia, PhD and Pilichou, Kalliopi, PhD and Marra, Martina Perazzolo, MD, PhD and Corbetti, Francesco, MD and Daliento, Luciano, MD and Iliceto, Sabino, MD and Corrado, Domenico, MD, PhD and Thiene, Gaetano, MD and Nava, Andrea, MD
Heart rhythm, ISSN 1547-5271, 2011, Volume 8, Issue 11, pp. 1686 - 1695
Cardiovascular | ARVC | late enhancement | LVEF | left ventricular ejection fraction | multiple mutations | right ventricular outflow tract | RVOT | BSA | electrocardiogram | right ventricular end-diastolic volume | RVEDA | PLAX | right ventricular fraction shortening | parasternal long axis | LVEDV | signal-averaged electrocardiogram | PSAX | ventricular fibrillation | left ventricular end diastolic volume | right ventricular | right ventricular end-diastolic area | ECG | CMR | SAECG | parasternal short axis | ventricular tachycardia | RVFS | left ventricular, ventricle | RVEDV | arrhythmogenic right ventricular cardiomyopathy | premature ventricular complex | PVC | cardiac magnetic resonance | body surface area | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Diagnosis, Differential | Echocardiography | Prognosis | Follow-Up Studies | Humans | Male | Arrhythmogenic Right Ventricular Dysplasia - diagnosis | Arrhythmogenic Right Ventricular Dysplasia - genetics | Phenotype | Magnetic Resonance Imaging, Cine - methods | Desmosomes - genetics | DNA - analysis | DNA Mutational Analysis | Pedigree | Adolescent | Electrocardiography | Female | Retrospective Studies | Mutation | Child | Pediatrics | Gene mutations | Cardiomyopathy | Electrocardiogram | Genes | Genetic research | Genetic aspects | Diagnosis | Children | Heart diseases | Health aspects | Index Medicus | ARVC, arrhythmogenic right ventricular cardiomyopathy | RVOT, right ventricular outflow tract | MM, multiple mutations | RV, right ventricular | LVEF, left ventricular ejection fraction | PLAX, parasternal long axis | RVFS, right ventricular fraction shortening | Clinical | SAECG, signal-averaged electrocardiogram | VF, ventricular fibrillation | PSAX, parasternal short axis | RVEDV, right ventricular end-diastolic volume | PVC, premature ventricular complex | LVEDV, left ventricular end diastolic volume | BSA, body surface area | VT, ventricular tachycardia | ECG, electrocardiogram | RVEDA, right ventricular end-diastolic area | CMR, cardiac magnetic resonance | LE, late enhancement | LV, left ventricular, ventricle
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3. Full Text A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia
by Roston, Thomas M., MD and Guo, Wenting, MSc and Krahn, Andrew D., MD and Wang, Ruiwu, PhD and Van Petegem, Filip, PhD and Sanatani, Shubhayan, MD and Chen, S.R. Wayne, PhD and Lehman, Anna, MD
Journal of electrocardiology, ISSN 0022-0736, 2016, Volume 50, Issue 2, pp. 227 - 233
Cardiovascular | Catecholaminergic polymorphic ventricular tachycardia | Sudden unexpected death | Arrhythmia | Left ventricular non-compaction | Ryanodine receptor-2 | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Genetic Predisposition to Disease - genetics | Genetic Testing | Tachycardia, Ventricular - complications | Genetic Association Studies | Humans | Male | Mutation - genetics | Young Adult | Heart Defects, Congenital - genetics | Heart Defects, Congenital - complications | Ryanodine Receptor Calcium Release Channel - genetics | Genetic Markers - genetics | Tachycardia, Ventricular - diagnosis | Polymorphism, Single Nucleotide - genetics | Tachycardia, Ventricular - genetics | Adult | Female | Heart Defects, Congenital - diagnosis | Ventricular tachycardia | Genetic aspects | Analysis | Caffeine | Cardiac arrhythmia | Cardiomyopathy | Genetic testing | Index Medicus
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4. Full Text The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?
by Leinonen, Jaakko T and Crotti, Lia and Djupsjöbacka, Aurora and Castelletti, Silvia and Junna, Nella and Ghidoni, Alice and Tuiskula, Annukka M and Spazzolini, Carla and Dagradi, Federica and Viitasalo, Matti and Kontula, Kimmo and Kotta, Maria-Christina and Widén, Elisabeth and Swan, Heikki and Schwartz, Peter J
International journal of cardiology, ISSN 0167-5273, 01/2018, Volume 250, pp. 139 - 145
Idiopathic ventricular fibrillation | RYR2 | Genetics | Catecholaminergic polymorphic ventricular tachycardia | Genetic testing | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Ventricular Fibrillation - diagnosis | Humans | Middle Aged | Male | Mutation - genetics | Young Adult | Tachycardia, Ventricular - epidemiology | Tachycardia, Ventricular - diagnosis | Adolescent | Tachycardia, Ventricular - genetics | Ventricular Fibrillation - genetics | Adult | Female | Italy - epidemiology | Genetic Variation - genetics | Ventricular Fibrillation - epidemiology | Child | Finland - epidemiology | Sequence Analysis, DNA - methods | Cohort Studies | Heart | Medical research | Abnormalities | Cardiac patients | Medicine, Experimental | Ventricular tachycardia | Disease susceptibility | Medical screening | Muscle contraction | Index Medicus
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5. Full Text In Vivo Ryr2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia
by Pan, Xiaolu and Philippen, Leonne and Lahiri, Satadru K and Lee, Ciaran and Park, So Hyun and Word, Tarah A and Li, Na and Jarrett, Kelsey E and Gupta, Rajat and Reynolds, Julia O and Lin, Jean and Bao, Gang and Lagor, William R and Wehrens, Xander H.T
Circulation research, ISSN 0009-7330, 09/2018, Volume 123, Issue 8, pp. 953 - 963
mutation | electrophysiology | gene editing | mice | allele | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Tachycardia, Ventricular - therapy | Dependovirus - genetics | Genetic Predisposition to Disease | Action Potentials - genetics | RNA, Guide - genetics | Heart Rate - genetics | Mice, Inbred C57BL | Mice, Transgenic | Ryanodine Receptor Calcium Release Channel - metabolism | CRISPR-Associated Protein 9 - genetics | Phenotype | Tachycardia, Ventricular - physiopathology | Animals | Ryanodine Receptor Calcium Release Channel - genetics | CRISPR-Cas Systems | Tachycardia, Ventricular - metabolism | Tachycardia, Ventricular - genetics | Gene Editing - methods | Mutation | Calcium Signaling - genetics | Genetic Vectors | Disease Models, Animal | Genetic Therapy - methods | Ventricular tachycardia | Genetic engineering | Genetic aspects | Research | Gene mutations | EF hand proteins | Index Medicus | CRISPR | arrhythmia | AAV | Catecholaminergic polymorphic ventricular tachycardia | gene therapy | Cas9 | ryanodine receptor | Arrhythmias
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6. Full Text Arrhythmogenic Right Ventricular Cardiomyopathy
by Corrado, Domenico and Link, Mark S and Calkins, Hugh
The New England journal of medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 61 - 72
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Tachycardia, Ventricular - therapy | Prognosis | Arrhythmogenic Right Ventricular Dysplasia - diagnostic imaging | Humans | Catheter Ablation | Death, Sudden, Cardiac - prevention & control | Arrhythmogenic Right Ventricular Dysplasia - therapy | Disease Progression | Arrhythmogenic Right Ventricular Dysplasia - genetics | Electrocardiography | Arrhythmogenic Right Ventricular Dysplasia - pathology | Mutation | Adrenergic beta-Antagonists - therapeutic use | Dysplasia | Diagnosis | Patients | Health aspects | Heart | Proteins | Cardiac muscle | Cardiomyopathy | Pathogenesis | Myocardium | Ventricle | Index Medicus | Abridged Index Medicus
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7. Full Text Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers A European Cohort Study
by van Rijsingen, Ingrid A. W and Arbustini, Eloisa and Elliott, Perry M and Mogensen, Jens and Hermans-van Ast, Johanna F and van der Kooi, Anneke J and van Tintelen, J. Peter and van den Berg, Maarten P and Pilotto, Anea and Pasotti, Michele and Jenkins, Sharon and Rowland, Camilla and Aslam, Uzma and Wilde, Arthur A. M and Perrot, Aneas and Pankuweit, Sabine and Zwinderman, Aeilko H and Charron, Philippe and Pinto, Yigal M
Journal of the American College of Cardiology, ISSN 0735-1097, 2012, Volume 59, Issue 5, pp. 493 - 500
lamin A/C | risk factors | sudden cardiac death | cardiomyopathy | implantable cardioverter-defibrillator | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | General aspects. Genetic counseling | Cardiac dysrhythmias | Medical genetics | Biological and medical sciences | Medical sciences | Severity of Illness Index | Genetic Predisposition to Disease | Follow-Up Studies | Humans | Middle Aged | Risk Factors | Europe - epidemiology | Male | Lamin Type A - metabolism | Incidence | DNA - genetics | Tachycardia, Ventricular - epidemiology | DNA Mutational Analysis | Lamin Type A - genetics | Tachycardia, Ventricular - metabolism | Tachycardia, Ventricular - genetics | Adult | Female | Retrospective Studies | Mutation | Index Medicus | Abridged Index Medicus
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8. Full Text Mutation‐Positive Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: The Triangle of Dysplasia Displaced
by TE RIELE, ANNELINE S.J.M and JAMES, CYNTHIA A and PHILIPS, BINU and RASTEGAR, NEDA and BHONSALE, ADITYA and GROENEWEG, JUDITH A and MURRAY, BRITTNEY and TICHNELL, CRYSTAL and JUDGE, DANIEL P and HEIJDEN, JEROEN F and CRAMER, MAARTEN J.M and VELTHUIS, BIRGITTA K and BLUEMKE, DAVID A and ZIMMERMAN, STEFAN L and KAMEL, IHAB R and HAUER, RICHARD N.W and CALKINS, HUGH and TANDRI, HARIKRISHNA
Journal of cardiovascular electrophysiology, ISSN 1045-3873, 12/2013, Volume 24, Issue 12, pp. 1311 - 1320
phenotype | magnetic resonance imaging | implantable cardioverter defibrillator | electroanatomic mapping | genetics | arrhythmogenic right ventricular dysplasia/cardiomyopathy | ventricular tachcardia | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Predictive Value of Tests | Humans | Middle Aged | Catheter Ablation | Male | Arrhythmogenic Right Ventricular Dysplasia - physiopathology | Action Potentials | Arrhythmogenic Right Ventricular Dysplasia - genetics | Young Adult | Netherlands | Arrhythmogenic Right Ventricular Dysplasia - surgery | Cicatrix - physiopathology | Tachycardia, Ventricular - genetics | Adult | Female | Registries | Arrhythmogenic Right Ventricular Dysplasia - pathology | Heart Ventricles - pathology | Genetic Predisposition to Disease | Treatment Outcome | Magnetic Resonance Imaging | Phenotype | Tachycardia, Ventricular - physiopathology | Baltimore | Tachycardia, Ventricular - surgery | Heart Ventricles - physiopathology | Heart Ventricles - surgery | Tachycardia, Ventricular - pathology | Cicatrix - pathology | Mutation | Electrophysiologic Techniques, Cardiac | Dysplasia | Genetic aspects | Electrocardiography | Index Medicus
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9. Full Text Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations
by Coppini, Raffaele, MD, PhD and Ho, Carolyn Y., MD and Ashley, Euan, MD, PhD and Day, Sharlene, MD and Ferrantini, Cecilia, MD, PhD and Girolami, Francesca, BS and Tomberli, Benedetta, MD and Bardi, Sara, BS and Torricelli, Francesca, MD and Cecchi, Franco, MD and Mugelli, Alessandro, MD and Poggesi, Corrado, MD and Tardiff, Jil, MD, PhD and Olivotto, Iacopo, MD
Journal of the American College of Cardiology, ISSN 0735-1097, 2014, Volume 64, Issue 24, pp. 2589 - 2600
Cardiovascular | Internal Medicine | end-stage | diastolic function | troponin | triphasic filling | genotype to phenotype correlation | correlation triphasic filling troponin | genotype to phenotype | diastolic function end-stage | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Biological and medical sciences | Myocarditis. Cardiomyopathies | Medical sciences | Follow-Up Studies | Humans | Middle Aged | Male | Cardiomyopathy, Hypertrophic - complications | Death, Sudden, Cardiac - etiology | Ventricular Fibrillation - etiology | Ventricular Outflow Obstruction - etiology | Actins - genetics | Ventricular Dysfunction, Left - genetics | Ventricular Fibrillation - genetics | Adult | Female | Heart Function Tests | Actin Cytoskeleton - genetics | Severity of Illness Index | Troponin T - genetics | Ventricular Outflow Obstruction - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | MAP Kinase Kinase Kinases - genetics | Ventricular Dysfunction, Left - etiology | Patient Outcome Assessment | Cardiomyopathy, Hypertrophic - diagnosis | Disease Progression | Cardiomyopathy, Hypertrophic - physiopathology | Italy | Mutation | Sects | Genetic aspects | Cardiomyopathy, Hypertrophic | Gene mutations | Medical research | Tachycardia | Actin | Genes | Myosin | Medicine, Experimental | Protein binding | Heart attacks | Cardiology | Drug therapy | Clinical outcomes | Index Medicus | Abridged Index Medicus | MYH7, myosin heavy chain | TNNT2, cardiac troponin T gene | HR, hazard ratio | SCD, sudden cardiac death | ICD, implantable cardioverter-defibrillator | TPM1, cardiac α-tropomyosin gene | LVH, left ventricular hypertrophy | MYBPC3, myosin binding protein C | LV, left ventricular | ECG, electrocardiography | LGE, late gadolinium enhancement | AF, atrial fibrillation | NSVT, nonsustained ventricular tachycardia | ACTC, cardiac α-actin gene | Original Investigation | CMR, cardiac magnetic resonance | HCM, hypertrophic cardiomyopathy | TNNI3, cardiac troponin I gene | NYHA, New York Heart Association
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