keyword
MENU ▼
Read by QxMD icon Read
search

Genetic cardiomyopathies

keyword
https://www.readbyqxmd.com/read/29221435/exploring-digenic-inheritance-in-arrhythmogenic-cardiomyopathy
#1
Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S Domingues, Elena Sommariva, Alessandra Rossini
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. METHODS: We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals...
December 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29219172/roles-of-lipocalin-2-and-adiponectin-in-iron-overload-cardiomyopathy
#2
REVIEW
Natthaphat Siri-Angkul, Siriporn C Chattipakorn, Nipon Chattipakorn
Thalassemia is among the most common genetic diseases worldwide. Ineffective erythropoiesis, chronic hemolysis, and regular blood transfusion in thalassemia patients lead to increased iron burden. Iron overload cardiomyopathy is the most severe co-morbidity and most common cause of mortality in thalassemia patients. Although its associated mechanisms are still not completely understood, cellular iron mishandling, chronic inflammation, and oxidative stress appear to be the key processes involved. In order to acquire a more comprehensive insight of the impact of cardiac iron overload, these alterations need to be intensively investigated...
December 8, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29212901/flnc-filamin-c-a-new-er-player-in-the-field-of-genetic-cardiomyopathies
#3
EDITORIAL
Andreas Brodehl, Anna Gaertner-Rommel, Hendrik Milting
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29212899/novel-mutation-in-flnc-filamin-c-causes-familial-restrictive-cardiomyopathy
#4
Nathan R Tucker, Micheal A McLellan, Dongjian Hu, Jiangchuan Ye, Victoria A Parsons, Robert W Mills, Sebastian Clauss, Elena Dolmatova, Marisa A Shea, David J Milan, Nandita S Scott, Mark Lindsay, Steven A Lubitz, Ibrahim J Domian, James R Stone, Honghuang Lin, Patrick T Ellinor
BACKGROUND: Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes. METHODS AND RESULTS: We evaluated 8 family members across 4 generations by history, physical examination, electrocardiography, and echocardiography...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29212898/genetic-testing-in-pediatric-left-ventricular-noncompaction
#5
Erin M Miller, Robert B Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R Shikany, Richard F Ittenbach, Stephanie M Ware
BACKGROUND: Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29212896/the-novel-desmin-mutation-p-glu401asp-impairs-filament-formation-disrupts-cell-membrane-integrity-and-causes-severe-arrhythmogenic-left-ventricular-cardiomyopathy-dysplasia
#6
Francisco José Bermúdez-Jiménez, Víctor Carriel, Andreas Brodehl, Miguel Alaminos, Antonio Campos, Ilona Schirmer, Hendrik Milting, Beatriz Álvarez Abril, Miguel Álvarez, Silvia López-Fernández, Diego García-Giustiniani, Lorenzo Monserrat, Luis Tercedor, Juan Jiménez-Jáimez
Background -Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia (iARVC/D), although their cellular and molecular pathomechanisms are not precisely known. Our aim is to describe clinically and functionally the novel DES-p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia (iLVAC/D). Methods -We identified the novel DES mutation p...
December 6, 2017: Circulation
https://www.readbyqxmd.com/read/29208771/advanced-iron-overload-cardiomyopathy-in-a-genetic-murine-model-is-rescued-by-resveratrol-therapy
#7
Subhash K Das, Pavel Zhabyeyev, Ratnadeep Basu, Vaibhav B Patel, Jason R B Dyck, Zamaneh Kassiri, Gavin Y Oudit
Iron-overload cardiomyopathy is prevalent on a worldwide basis and is a major co-morbidity in patients with genetic hemochromatosis and secondary iron overload. Therapies are limited in part due to lack of a valid pre-clinical model, which recapitulates advanced iron-overload cardiomyopathy. Male hemojuvelin knockout (HJVKO) mice, which lack hemojuvelin (HJV), a bone morphogenetic co-receptor protein required for hepcidin expression and systemic iron homeostasis, were fed a high iron diet starting at 4 weeks of age for a duration of 1 year...
December 5, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29208631/the-drosophila-junctophilin-gene-is-functionally-equivalent-to-its-four-mammalian-counterparts-and-is-a-modifier-of-a-huntingtin-poly-q-expansion-and-the-notch-pathway
#8
Eduardo Calpena, Víctor López Del Amo, Mouli Chakraborty, Beatriz Llamusí, Rubén Artero, Carmen Espinós, Máximo I Galindo
Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells with critical implications for human pathophysiology. In mammals this family consists in four members (JPH1-4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles, and neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier in CMT2K peripheral neuropathy...
November 20, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29207362/alcohol-septal-ablation-for-hypertrophic-obstructive-cardiomyopathy-indications-technical-aspects-and-clinical-outcomes
#9
REVIEW
Marco Spaziano, Fadi J Sawaya, Thierry Lefèvre
Hypertrophic cardiomyopathy is the most common genetically transmitted heart disease. Around two-thirds of patients develop symptoms caused by the dynamic left ventricular outflow tract obstruction, either at rest or during effort. For patients with hypertrophic obstructive cardiomyopathy (HOCM) that remain symptomatic despite optimal medical treatment, septal reduction is a valuable therapeutic strategy. While surgical myomectomy was considered the gold standard until the end of the 1990s, alcohol septal ablation (ASA) has gained rapid popularity and acceptance, especially in Europe...
December 2017: Journal of Invasive Cardiology
https://www.readbyqxmd.com/read/29206935/report-of-a-myocarditis-outbreak-among-pediatric-patients-human-herpesvirus-7-as-a-causative-agent
#10
Rahmi Ozdemir, Mehmet Kucuk, Saime Ergen Dibeklioglu
Background: The etiology of myocarditis in children has not yet been completely elucidated. Objective: Medical records of eight pediatric patients diagnosed with acute myocarditis within a 41-day period in a small-town hospital were retrospectively analyzed. Methods: We examined antibody titers of adenovirus, Epstein-Barr virus, herpes simplex virus, respiratory syncytial virus, varicella-zoster virus and cytomegalovirus in peripheral blood...
November 30, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29203298/the-genetic-and-molecular-bases-for-hypertrophic-cardiomyopathy-the-role-for-calcium-sensitization
#11
REVIEW
Xianfeng Ren, Nadia Hensley, Mary Beth Brady, Wei Dong Gao
Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders and leads to cardiac ischemia, heart failure, dysfunction of other organ systems, and increased risk for sudden unexpected cardiac deaths. HCM can be caused by single-point mutations, insertion or deletion mutations, or truncation of cardiac myofilament proteins. The molecular mechanism that leads to disease progression and presentation is still poorly understood, despite decades of investigations...
May 19, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29191297/verification-of-heart-disease-implications-for-a-new-heart-transplantation-allocation-system
#12
Pejman Raeisi-Giglou, E Rene Rodriguez, Eugene H Blackstone, Carmela D Tan, Eileen M Hsich
OBJECTIVES: This study sought to determine the accuracy of the pre-transplantation clinical diagnosis of heart disease in the United Network for Organ Sharing (UNOS) database. BACKGROUND: Because survival on the heart transplantation waitlist depends on underlying heart disease, a new allocation system will include the type of heart disease. Accuracy of the pre-transplantation clinical diagnosis and the effect of misclassification are unknown. METHODS: We included all adults who received transplants at our center between January 2009 to December 2015...
December 2017: JACC. Heart Failure
https://www.readbyqxmd.com/read/29188317/genetic-testing-in-pediatric-cardiomyopathy
#13
Chalani D Ellepola, Linda M Knight, Peter Fischbach, Shriprasad R Deshpande
Genetic testing is recommended in patients with dilated cardiomyopathy (DCM); however, limited studies demonstrate high yields of genetic testing in non-hypertrophic (HCM) patients. Furthermore, there is sparse genotype-phenotype data in pediatric DCM patients. We performed a retrospective review of 70 consecutive probands with cardiomyopathy (non-HCM) who underwent genetic evaluation. Mean age at presentation was 5.48 years. Echocardiography revealed mean ejection fraction of 32.4%. The LVEDd z score ranged from - 5...
November 29, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29178656/unique-genetic-background-and-outcome-of-non-caucasian-japanese-probands-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#14
Yuko Wada, Seiko Ohno, Takeshi Aiba, Minoru Horie
BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESULTS: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29176389/contemporary-genetic-testing-in-inherited-cardiac-disease-tools-ethical-issues-and-clinical-applications
#15
Francesca Girolami, Giulia Frisso, Matteo Benelli, Lia Crotti, Maria Iascone, Ruggiero Mango, Cristina Mazzaccara, Kalliope Pilichou, Eloisa Arbustini, Benedetta Tomberli, Giuseppe Limongelli, Cristina Basso, Iacopo Olivotto
: Inherited cardiac diseases comprise a wide and heterogeneous spectrum of diseases of the heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal hearts, that is, channelopathies. With a combined estimated prevalence of 3% in the general population, these conditions represent a relevant epidemiological entity worldwide, and are a major cause of cardiac morbidity and mortality in the young. The extraordinary progress achieved in molecular genetics over the last three decades has unveiled the complex molecular basis of many familial cardiac conditions, paving the way for routine use of gene testing in clinical practice...
November 14, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29175975/lamin-and-the-heart
#16
REVIEW
Gabriella Captur, Eloisa Arbustini, Gisèle Bonne, Petros Syrris, Kevin Mills, Karim Wahbi, Saidi A Mohiddin, William J McKenna, Stephen Pettit, Carolyn Y Ho, Antoine Muchir, Paul Gissen, Perry M Elliott, James C Moon
Lamins A and C are intermediate filament nuclear envelope proteins encoded by the LMNA gene. Mutations in LMNA cause autosomal dominant severe heart disease, accounting for 10% of dilated cardiomyopathy (DCM). Characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is more malignant than other common DCMs due to high event rates even when the left ventricular impairment is mild. It has several phenotypic mimics, but overall it is likely to be an under-recognised cause of DCM...
November 25, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29173988/non-compaction-cardiomyopathy-a-short-review-of-a-controversial-entity
#17
REVIEW
Rebeca Lorca, José Rozado, María Martín
Non-compaction cardiomyopathy is a heterogeneous and complex entity concerning which there are still many doubts to be resolved. While the American Heart Association includes it among genetic cardiomyopathies, the European Society of Cardiology treats it as an unclassified cardiomyopathy. It may present in a sporadic or familial form, isolated or associated with other heart diseases, affecting only the left ventricle or both and can sometimes appear as a mixed phenotype in patients with other cardiomyopathies...
November 22, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29173404/sudden-cardiac-death-in-genetic-cardiomyopathies
#18
REVIEW
Gourg Atteya, Rachel Lampert
Sudden cardiac death (SCD) caused by ventricular arrhythmias is common in patients with genetic cardiomyopathies (CMs) including dilated CM, hypertrophic CM, and arrhythmogenic right ventricular CM (ARVC). Phenotypic features can identify individuals at high enough risk to warrant placement of an implantable cardioverter-defibrillator, although risk stratification schemes remain imperfect. Genetic testing is valuable for family cascade screening but with few exceptions (eg, LMNA mutations) do not identify higher risk for SCD...
December 2017: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29170972/the-accessibility-and-utilization-of-genetic-testing-for-inherited-heart-rhythm-disorders-a-canadian-cross-sectional-survey-study
#19
Thomas M Roston, Laura Dewar, Sonia Franciosi, Julie Hathaway, Kirsten Bartels, Taylor Cunningham, Karen A Gibbs, Sam Sheps, Zachary W M Laksman, Shubhayan Sanatani, Andrew D Krahn
The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey...
November 23, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29162721/loss-of-%C3%AE-b-crystallin-function-in-zebrafish-reveals-critical-roles-in-the-development-of-the-lens-and-stress-resistance-of-the-heart
#20
Sanjay Mishra, Shu-Yu Wu, Alexandra W Fuller, Zhen Wang, Kristie L Rose, Kevin L Schey, Hassane S Mchaourab
Genetic mutations in the human small heat shock protein αB-crystallin have been implicated in autosomal cataracts and skeletal myopathies, including heart muscle diseases (cardiomyopathy). While these mutations lead to modulation of their chaperone activity in vitro, the in vivo functions of αB-crystallin in the maintenance of both lens transparency and muscle integrity remain unclear. This lack of information has hindered a mechanistic understanding of these diseases. To better define the functional roles of αB-crystallin, we generated loss-of-function zebrafish mutant lines by utilizing CRISPR/Cas9 system to specifically disrupt the two αB-crystallin genes, αBa and αBb We observed lens abnormalities in the mutant lines of both genes and the penetrance of the lens phenotype was higher in αBa than αBb mutants...
November 21, 2017: Journal of Biological Chemistry
keyword
keyword
13337
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"