Assessment of HaloPlex Amplification for Sequence Capture and Massively Parallel Sequencing of Arrhythmogenic Right Ventricular Cardiomyopathy–Associated Genes

The genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC) is complex. Mutations in genes encoding components of the cardiac desmosomes have been implicated as being causally related to ARVC. Next-generation sequencing allows parallel sequencing and duplication/deletion analysis of many genes simultaneously, which is appropriate for screening of mutations in disorders with heterogeneous genetic backgrounds. We designed and validated a next-generation sequencing test panel for ARVC using HaloPlex.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research

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Conclusions: These results demonstrate that the CTC can be used to create highly relevant models where hemodynamic loading and unloading are accurately reproduced for cardiovascular disease mod- ling.
Source: IEEE Transactions on Biomedical Engineering - Category: Biomedical Engineering Source Type: research
Dogs are an interesting species when it comes to the study of aging. Firstly they are much closer to human metabolism and cellular biochemistry than mice, and secondly selective breeding has generated lineages with a very wide range of sizes and life spans. Thirdly, they occupy a good compromise position in the range of life spans, study cost, and similarity to humans. Mice live short lives, so studies are rapid and comparatively cheap, but there are sizable, important differences between mouse and human biochemistry. Humans live so long that most studies of aging are simply out of the question. Even in non-human primates ...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
The objective of the present study was to identify risk factors leading to the development of clinical CMS, using data provided from the salmon producers. Daily production data from individual fishgroups in more than 120 salmon farms along the coast of Norway from fish put to sea in 2012-2014 was collected. The data included cause-specific mortalities, which was used to identify outbreaks of CMS and risk factors for disease.A model for describing the daily probability of outbreak of CMS in each fishgroup was developed. The model was run to find the most likely value for each of the parameters, given the observed outbreak d...
Source: Preventive Veterinary Medicine - Category: Veterinary Research Source Type: research
In conclusion, our results validated the association found previously in the Colombian cohort suggesting thatIL18 rs360719 plays an important role in the susceptibility toT.cruzi infection and no evidence of association was found between theIL18 genetic variants and CCC in the Latin American population studied.
Source: PLoS Neglected Tropical Diseases - Category: Tropical Medicine Authors: Source Type: research
AbstractPurpose of reviewPregnancy is a time of significant cardiovascular change. Echocardiography is the primary imaging modality used to assess cardiovascular anatomy and physiology during pregnancy. Both two-dimensional (2D) echocardiography and advanced cardiac ultrasound modalities play pivotal roles in identifying and monitoring these changes, especially in women with preexisting or new cardiac disease. This paper reviews the role of echocardiography and advanced cardiac ultrasound during normal pregnancy and pregnancy complicated by hypertensive disorders, valvular disorders, and cardiomyopathy. It also examines th...
Source: Current Treatment Options in Cardiovascular Medicine - Category: Cardiology Source Type: research
Publication date: Available online 19 November 2019Source: Pharmacological ResearchAuthor(s): Nebojša Mujović, Dobromir Dobrev, Milan Marinković, Vincenzo Russo, Tatjana S. PotparaAbstractAmiodarone is an iodinated benzofuran derivative, a highly lipophilic drug with unpredictable pharmacokinetics. Although originally classified as a class III agent due to its ability to prolong refractoriness in cardiac regions and prevent/terminate re-entry, amiodarone shows antiarrhythmic properties of all four antiarrhythmic drug classes. Amiodarone is a potent coronary and peripheral vasodilator and can be safely used in pati...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
Inherited heart diseases include numerous conditions, from the more prevalent hypertrophic cardiomyopathy (HCM) and familial hypercholesterolaemia (FH), to the comparatively less common inherited arrhythmia syndromes, such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS). Genetic testing has evolved rapidly over the last decade and is now considered a mainstream component of clinical management of inherited heart diseases. Cardiac manifestations can also be part of wider syndromes, and genetic testing can play a critical role in clarifying the underlying ae...
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: Review Source Type: research
Authors: Du Y, Wang Y, Han X, Feng Z, Ma A Abstract Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiovascular diseases and possesses a high risk for sudden cardiac death. Although mutations in more than 20 genes have been reported to be associated with HCM thus far, the genetic backgrounds of most HCM patients are not fully understood. We performed a genetic analysis in a Chinese family that presented with HCM using next-generation sequencing (NGS). Clinical data, family histories, and blood samples were collected from the proband and family members. Five patients showed typical clinical ...
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research
Authors: Miura S, Okada T, Kuroda H, Yamaguchi K, Yoshitomi H, Watanabe N, Endo A, Tanabe K Abstract Hypertrophic cardiomyopathy with left ventricular (LV) mid-cavity obstruction and LV apical aneurysm is associated with high morbidity and mortality rates. However, consensus is lacking on the treatment modality for LV mid-cavity obstruction and LV apical aneurysm. Here, we report a case of reduced LV mid-cavity pressure gradient and symptoms, treated using permanent pacing. The effect of permanent pacing on pressure gradient and symptoms lasted for 4 years. As pacing is relatively non-invasive compared to surgical ...
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research
Publication date: Available online 18 November 2019Source: Revista Española de Cardiología (English Edition)Author(s): João Rato, Rita Ataíde, Duarte Martins, Oana Moldovan, Diogo Cavaco, Rui Anjos
Source: Revista Espanola de Cardiologia - Category: Cardiology Source Type: research
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