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Familial dilated cardiomyopathy

Liming Wang, L Zhu, R Luan, L Wang, J Fu, X Wang, L Sui
Dilated cardiomyopathy (DCM) is characterized by ventricular dilatation, and it is a common cause of heart failure and cardiac transplantation. This study aimed to explore potential DCM-related genes and their underlying regulatory mechanism using methods of bioinformatics. The gene expression profiles of GSE3586 were downloaded from Gene Expression Omnibus database, including 15 normal samples and 13 DCM samples. The differentially expressed genes (DEGs) were identified between normal and DCM samples using Limma package in R language...
October 10, 2016: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
Alexandra Pérez-Serra, Rocio Toro, Georgia Sarquella-Brugada, David de Gonzalo-Calvo, Sergi Cesar, Esther Carro, Vicenta Llorente-Cortes, Anna Iglesias, Josep Brugada, Ramon Brugada, Oscar Campuzano
Dilated cardiomyopathy is a rare cardiac disease characterized by left ventricular dilatation and systolic dysfunction leading to heart failure and sudden cardiac death. Currently, despite several conditions have been reported as aetiologies of the disease, a large number of cases remain classified as idiopathic. Recent studies determine that nearly 60% of cases are inherited, therefore due to a genetic cause. Progressive technological advances in genetic analysis have identified over 60 genes associated with this entity, being TTN the main gene, so far...
September 21, 2016: International Journal of Cardiology
Lihua Qi, Yu Yu, Xiaochun Chi, Danyu Lu, Yao Song, Youyi Zhang, Hongquan Zhang
Kindlin-2, a member of the Kindlin family focal adhesion proteins, plays an important role in cardiac development. It is known that defects in the Z-disc proteins lead to hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM). Our previous investigation showed that Kindlin-2 is mainly localized at the Z-disc and depletion of Kindlin-2 disrupts the structure of the Z-Disc. Here, we reported that depletion of Kindlin-2 leads to the disordered myocardial fibers, fractured and vacuolar degeneration in myocardial fibers...
September 20, 2016: Science China. Life Sciences
Janelle Geist, Aikaterini Kontrogianni-Konstantopoulos
Myosin Binding Protein-C (MyBP-C) comprises a family of accessory proteins that includes the cardiac, slow skeletal, and fast skeletal isoforms. The three isoforms share structural and sequence homology, and localize at the C-zone of the sarcomeric A-band where they interact with thick and thin filaments to regulate the cycling of actomyosin crossbridges. The cardiac isoform, encoded by MYBPC3, has been extensively studied over the last several decades due to its high mutational rate in congenital hypertrophic and dilated cardiomyopathy...
2016: Frontiers in Physiology
Rahul C Deo
BACKGROUND: -Truncating mutations in the giant sarcomeric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy (DCM). Detailed studies have amassed a wealth of information regarding truncating variant position in cases and controls. Nonetheless, considerable confusion exists as to how to interpret the pathogenicity of these variants, hindering our ability to make useful recommendations to patients. METHODS AND RESULTS: -Building on our recent discovery of a conserved internal promoter within the Titin gene, we sought to develop an integrative statistical model to explain the observed pattern of TTN truncation variants in DCM patients and population controls...
September 13, 2016: Circulation. Cardiovascular Genetics
Deniz Akdis, Corinna Brunckhorst, Firat Duru, Ardan M Saguner
This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes...
August 2016: Arrhythmia & Electrophysiology Review
Eyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas-Rothschild, Dana Irge, Meytal Landau, Mordechai Shohat, Xose S Puente, Doron M Behar, Carlos Lopez-Otın
In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we applied whole-exome sequencing to members of a non-consanguineous family affected by a previously unreported congenital dilated cardiomyopathy syndrome necessitating early-onset heart transplant. Exome analysis identified compound heterozygous variants in the FLNC gene...
September 7, 2016: European Journal of Human Genetics: EJHG
Katarzyna E Gil, Agnieszka Pawlak, Robert J Gil, Małgorzata Frontczak-Baniewicz, Jacek Bil
BACKGROUND: Dilated cardiomyopathy is one of the most frequent causes of non-ischemic heart failure. Many factors including genetic disorders, infectious agents, toxins, drugs and autoimmune disorders might take part in the development of dilated cardiomyopathy. Diagnosis of left ventricular dilatation is most often limited to performing echocardiography and excluding ischemic etiology (coronary angiography). Since many pathologies take place at the cellular and subcellular level the only way to clarify the etiology of the disease is to examine the myocardium itself (endomyocardial biopsy)...
September 2016: Advances in Medical Sciences
Mariana Priganc, Michaela Zigová, Iveta Boroňová, Jarmila Bernasovská, Dana Dojčáková, Viktória Szabadosová, Marta Mydlárová Blaščáková, Iveta Tóthová, Ján Kmec, Ivan Bernasovský
OBJECTIVE: Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated...
August 24, 2016: Journal of Clinical Laboratory Analysis
Dong Fan, Abhijit Takawale, Mengcheng Shen, Victor Samokhvalov, Ratnadeep Basu, Vaibhav Patel, Xiuhua Wang, Carlos Fernandez-Patron, John M Seubert, Gavin Y Oudit, Zamaneh Kassiri
A disintegrin and metalloprotease-17 (ADAM17) belongs to a family of transmembrane enzymes, and it can mediate ectodomain shedding of several membrane-bound molecules. ADAM17 levels are elevated in patients with hypertrophic and dilated cardiomyopathy; however, its direct role in hypertrophic cardiomyopathy is unknown. Cardiomyocyte-specific ADAM17 knockdown mice (ADAM17(flox/flox)/αMHC-Cre; ADAM17(f/f)/Cre) and littermates with intact ADAM17 levels (ADAM17(f/f)) were subjected to cardiac pressure-overload by transverse aortic constriction...
October 2016: Hypertension
Ji-Shi Liu, Liang-Liang Fan, Hao Zhang, Xiaoxian Liu, Hao Huang, Li-Jian Tao, Kun Xia, Rong Xiang
OBJECTIVES: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. METHODS: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations...
August 20, 2016: Cardiology
Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, Menachem Sadeh, Ron Dabby, Rachel Straussberg, Ilan Shelef, Daniel Dayan, Leslie Anne Leinwand, Ohad S Birk
BACKGROUND: Human skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I skeletal fibers and cardiac ventricles. In line with its expression pattern, MYH7 mutations have been reported in association with hypertrophic or dilated cardiomyopathy, skeletal myopathies or a combination of both. We analyzed the clinical and molecular phenotype of two unrelated families of Jewish Moroccan ancestry that presented with apparently autosomal dominant inheritance of progressive Laing-like distal myopathy with non-specific myopathic changes, but uncommon marked contractures and wasting of the neck extensors...
2016: BMC Medical Genetics
Yi-Meng Zhou, Xiao-Yong Dai, Ri-Tai Huang, Song Xue, Ying-Jia Xu, Xing-Biao Qiu, Yi-Qing Yang
Dilated cardiomyopathy (DCM) is the most prevalent form of primary cardiomyopathy in humans and is a leading cause of heart failure and sudden cardiac death. Genetic abnormalities have been demonstrated to be a major contributor to the development of DCM. However, DCM is a genetically heterogeneous disease, and the genetic basis underlying DCM in a significant proportion of patients remains unclear. In the current study, the coding exons and splicing junction sites of the T‑Box 20 (TBX20) gene, which encodes a T‑box transcription factor essential for cardiac morphogenesis and structural remodeling, were sequenced in 115 unrelated patients with idiopathic DCM, and a novel heterozygous mutation, p...
October 2016: Molecular Medicine Reports
Ragesh Panikkath, Deepa Panikkath, S Sanchez-Iglesias, D Araujo-Vilar, Joaquin Lado-Abeal
A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter...
July 2016: Journal of Investigative Medicine High Impact Case Reports
Krishna Chinthalapudi, Erumbi S Rangarajan, David T Brown, Tina Izard
The main cause of death globally remains debilitating heart conditions, such as dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), which are often due to mutations of specific components of adhesion complexes. Vinculin regulates these complexes and plays essential roles in intercalated discs that are necessary for muscle cell function and coordinated movement and in the development and function of the heart. Humans bearing familial or sporadic mutations in vinculin suffer from chronic, progressively debilitating DCM that ultimately leads to cardiac failure and death, whereas autosomal dominant mutations in vinculin can also provoke HCM, causing acute cardiac failure...
August 23, 2016: Proceedings of the National Academy of Sciences of the United States of America
Yogananda S Markandeya, Tadashi Tsubouchi, Timothy A Hacker, Matthew R Wolff, Luiz Belardinelli, Ravi C Balijepalli
BACKGROUND: Lamin A and C are nuclear filament proteins encoded by LMNA gene. Mutations in LMNA gene cause many congenital diseases known as laminopathies, including Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome and familial dilated cardiomyopathy (DCM) with conduction disease. A missense mutation (N195K) in the A-type lamins results in familial DCM and sudden arrhythmic death. OBJECTIVE: We investigated the ion current mechanism of arrhythmia and DCM caused by the LaminA-N195K variant...
August 3, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Abdelaziz Beqqali, Ilse A E Bollen, Torsten B Rasmussen, Maarten M van den Hoogenhof, Hanneke W M van Deutekom, Sebastian Schafer, Jan Haas, Benjamin Meder, Keld E Sørensen, Ralph J van Oort, Jens Mogensen, Norbert Hubner, Esther E Creemers, Jolanda van der Velden, Yigal M Pinto
AIM: Mutations in the RS-domain of RNA-binding motif protein 20 (RBM20) have recently been identified to segregate with aggressive forms of familial dilated cardiomyopathy (DCM). Loss of RBM20 in rats results in missplicing of the sarcomeric gene titin (TTN). The functional and physiological consequences of RBM20 mutations outside the mutational hotspot of RBM20 have not been explored to date. In this study, we investigated the pathomechanism of DCM caused by a novel RBM20 mutation in human cardiomyocytes...
October 2016: Cardiovascular Research
Jonathan A Drezner, David S Owens, Jordan M Prutkin, Jack C Salerno, Kimberly G Harmon, Shelley Prosise, Alana Clark, Irfan M Asif
The most effective protocol for cardiovascular screening of competitive athletes remains highly controversial. This study was a prospective, multicenter trial of cardiovascular screening at 35 National Collegiate Athletic Association institutions. Screening included a standardized history and physical examination (PE) as recommended by the American Heart Association and a 12-lead electrocardiogram (ECG) at rest. Centralized electrocardiographic interpretation was provided using the Seattle criteria. Athletes with screening abnormalities underwent additional evaluation directed by the host institution medical team...
September 1, 2016: American Journal of Cardiology
Gregory B Lim
No abstract text is available yet for this article.
September 2016: Nature Reviews. Cardiology
Lijun Fu, Sushan Luo, Shuang Cai, Wenjing Hong, Ying Guo, Jinjin Wu, Tingliang Liu, Chongbo Zhao, Fen Li, Huimin Huang, Meirong Huang, Jian Wang
Danon disease is an X-linked disorder with the clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Early diagnosis of this disease remains a challenge, especially in the pediatric population. In this study, we developed a targeted panel-based next generation sequencing pipeline to identify mutations by sequencing of selected candidate genes in 136 pediatric patients with either hypertrophic cardiomyopathy (HC) or idiopathic dilated cardiomyopathy (IDC). This led to the identification of lysosome-associated membrane protein 2 (LAMP2) mutations in 4 of the 64 (6%) probands with HC, including 3 novel nonsense mutations (p...
September 15, 2016: American Journal of Cardiology
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