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After 10 months, Alnylam still can't explain patient trial deaths

More than 10 months after disclosing that patients who received one of its experimental drugs in a late-stage trial had died at a far higher rate than those on placebo, Cambridge-based Alnylam Pharmaceuticals still cannot conclusively explain what went wrong. Alnylam (Nasdaq: ALNY) on Wednesday released the results of its investigation into the deaths of older patients with heart problems who took revusiran, a potential treatment for a deadly inherited disease called hATTR cardiomyopathy. In October,…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news

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Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Authors: Cao Y, Zhang PY Abstract Hypertrophic cardiomyopathy (HCM) is a complex but common monogenic cardiovascular disorder characterized by unexplained non dilated left ventricular (LV) thickening in the absence of another cardiac or systemic disease. The condition is associated with sudden and unexpected death in young individuals including trained athletes. HCM represents a genetic disorder caused by mutations in genes encoding sarcomeric proteins of the cardiac myocyte. This review article discusses the genetics behind HCM, its clinical presentation, and diagnosis and the present-day pharmacological managemen...
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Authors: Waki H, Eguchi K, Toriumi S, Ikemoto T, Suzuki T, Fukushima N, Kario K Abstract The diagnosis of cardiac sarcoidosis (CS) has become easier due to advances in imaging modalities, but we sometimes encounter difficult-to-diagnose patients. We herein report the case of a 60-year-old Japanese woman who was diagnosed with isolated CS, although she also met the diagnostic criteria of arrhythmogenic right ventricular cardiomyopathy (ARVC). A histological examination by an endomyocardial biopsy of the right ventricle revealed the typical findings of granulomatous change for CS. Although she did not show any charac...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Source: Journal of Cardiovascular Electrophysiology - Category: Cardiology Authors: Tags: LETTER TO THE EDITOR Source Type: research
Background— Mutations in LMNA (lamin A/C), which encodes lamin A and C, typically cause age-dependent cardiac phenotypes, including dilated cardiomyopathy, cardiac conduction disturbance, atrial fibrillation, and malignant ventricular arrhythmias. Although the type of LMNA mutations have been reported to be associated with susceptibility to malignant ventricular arrhythmias, the gene-based risk stratification for cardiac complications remains unexplored. Methods and Results— The multicenter cohort included 77 LMNA mutation carriers from 45 families; cardiac disorders were retrospectively analyzed. The mean age...
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Arrhythmias, Sudden Cardiac Death, Genetic, Association Studies, Cardiomyopathy, Heart Failure Original Articles Source Type: research
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Cardiovascular Disease, Genetics, Cardiomyopathy, Heart Failure Clinical Genomic Cases Source Type: research
Conclusions— We anticipate that this study will demonstrate that idiopathic DCM has a genetic basis and guide best practices for a genetics-driven approach to early intervention in at-risk relatives. Clinical Trial Registration— URL: http://www.clinicaltrials.gov. Unique identifier: NCT03037632.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Clinical Studies, Genetics, Cardiomyopathy, Behavioral/Psychosocial Treatment, Compliance/Adherence Methods in Genetics and Clinical Interpretation Source Type: research
Conclusions— Genetic variation contributes substantially to AF risk. The risk for AF conferred by genomic variation is similar to that observed for several other cardiovascular diseases. Established AF loci only explain a moderate proportion of disease risk, suggesting that further genetic discovery, with an emphasis on common variation, is warranted to understand the causal genetic basis of AF.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Arrhythmias, Atrial Fibrillation, Epidemiology, Genetic, Association Studies, Genetics Original Articles Source Type: research
Conclusions— Similar performance characteristics were observed for next-generation sequencing of FFPET, whole blood, and dried blood spot in the evaluation of inherited CV disorders. Although blood is preferable for genetic analyses, this study offers an alternative when only FFPET is available.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Sudden Cardiac Death, Genetics, Cardiomyopathy, Diagnostic Testing Original Articles Source Type: research
Conclusions— We observed numerous de novo variants associated with cardiac disease as standing variation in ExAC, thus these variants are less likely monogenetic causes or major risk contributors for cardiac disease. This highlights the importance of investigating the pathogenicity of de novo variants because they are not as exclusive and pathogenically evident as presumed previously.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Arrhythmias, Sudden Cardiac Death, Genetics, Cardiomyopathy, Congenital Heart Disease Original Articles Source Type: research
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