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Sarcomeric cardiomyopathy

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https://www.readbyqxmd.com/read/29663722/homozygous-missense-mybpc3-pro873his-mutation-associated-with-increased-risk-for-heart-failure-development-in-hypertrophic-cardiomyopathy
#1
Antheia Kissopoulou, Cecilia Trinks, Anna Green, Jan-Erik Karlsson, Jon Jonasson, Cecilia Gunnarsson
Hypertrophic cardiomyopathy (HCM) is a primary autosomal-dominant disorder of the myocardium with variable expressivity and penetrance. Occasionally, homozygous sarcomere genetic variants emerge while genotyping HCM patients. In these cases, a more severe HCM phenotype is generally seen. Here, we report a case of HCM that was diagnosed clinically at 39 years of age. Initial symptoms were shortness of breath during exertion. Successively, he developed a wide array of severe clinical manifestations, which progressed to an ominous end-stage heart failure that resulted in heart transplantation...
April 16, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29655825/hypertrophic-cardiomyopathy-clinical-update
#2
REVIEW
Jeffrey B Geske, Steve R Ommen, Bernard J Gersh
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients...
April 5, 2018: JACC. Heart Failure
https://www.readbyqxmd.com/read/29648621/the-mef2-transcriptional-target-dmpk-induces-loss-of-sarcomere-structure-and-cardiomyopathy
#3
Amin Damanafshan, Ies Elzenaar, Benoit Samson-Couterie, Ingeborg van der Made, Meriem Bourajjaj, Maarten M van den Hoogenhof, Henk A van Veen, Daisy I Picavet, Abdelaziz Beqqali, Elisabeth Ehler, Leon J De Windt, Yigal M Pinto, Ralph J van Oort
Aim: The pathology of heart failure is characterized by poorly contracting and dilated ventricles. At the cellular level, this is associated with lengthening of individual cardiomyocytes and loss of sarcomeres. While it is known that the transcription factor myocyte enhancer factor -2 (MEF2) is involved in this cardiomyocyte remodeling, the underlying mechanism remains to be elucidated. Here, we aim to mechanistically link MEF2 target genes with loss of sarcomeres during cardiomyocyte remodeling...
April 10, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29622585/prevalence-and-progression-of-late-gadolinium-enhancement-in-children-and-adolescents-with-hypertrophic-cardiomyopathy
#4
Anna Axelsson Raja, Hoshang Farhad, Anne Marie Valente, John-Paul Couce, John Lynn Jefferies, Henning Bundgaard, Kenneth Zahka, Harry Lever, Anne M Murphy, Euan Ashley, Sharlene M Day, Mark V Sherrid, Ling Shi, David A Bluemke, Charles E Canter, Steven D Colan, Carolyn Y Ho
Background -Late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR) is believed to represent dense replacement fibrosis. It is seen in ~60% of adult patients with hypertrophic cardiomyopathy (HCM). However, the prevalence of LGE in children and adolescents with HCM is not well established. Additionally, longitudinal studies describing the development and evolution of LGE in pediatric HCM are lacking. This study assesses the prevalence, progression, and clinical correlations of LGE in children and adolescents with, or genetically predisposed to, HCM...
April 5, 2018: Circulation
https://www.readbyqxmd.com/read/29621050/sudden-cardiac-death-in-hypertrophic-cardiomyopathy
#5
Daria M Adamczak, Zofia Oko-Sarnowska
Hypertrophic cardiomyopathy (HCM) is a heart disease characterized by hypertrophy of the left ventricular myocardium and is most often caused by mutations in sarcomere genes. The structural and functional abnormalities are not explained by flow-limiting coronary artery disease or loading conditions. The disease affects at least 0.2% of the population worldwide and is the most common cause of sudden cardiac death in young people and competitive athletes because of fatal ventricular arrhythmia. In some patients, however, HCM has a benign course...
May 2018: Cardiology in Review
https://www.readbyqxmd.com/read/29563334/allele-specific-differences-in-transcriptome-mirnome-and-mitochondrial-function-in-two-hypertrophic-cardiomyopathy-mouse-models
#6
Styliani Vakrou, Ryuya Fukunaga, D Brian Foster, Lars Sorensen, Yamin Liu, Yufan Guan, Kirubel Woldemichael, Roberto Pineda-Reyes, Ting Liu, Jill C Tardiff, Leslie A Leinwand, Carlo G Tocchetti, Theodore P Abraham, Brian O'Rourke, Miguel A Aon, M Roselle Abraham
Hypertrophic cardiomyopathy (HCM) stems from mutations in sarcomeric proteins that elicit distinct biophysical sequelae, which in turn may yield radically different intracellular signaling and molecular pathologic profiles. These signaling events remain largely unaddressed by clinical trials that have selected patients based on clinical HCM diagnosis, irrespective of genotype. In this study, we determined how two mouse models of HCM differ, with respect to cellular/mitochondrial function and molecular biosignatures, at an early stage of disease...
March 22, 2018: JCI Insight
https://www.readbyqxmd.com/read/29561320/genetic-cardiomyopathies
#7
Jane E Wilcox, Ray E Hershberger
PURPOSE OF REVIEW: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). RECENT FINDINGS: The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine...
March 19, 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29549657/a-novel-missense-mutation-p-gly162glu-of-the-gene-myl2-involved-in-hypertrophic-cardiomyopathy-a-pedigree-analysis-of-a-proband
#8
Pauline Renaudin, Alexandre Janin, Gilles Millat, Philippe Chevalier
BACKGROUND: Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy, is mostly caused by mutations in sarcomeric genes. Identifying the genetic cause is important for management, therapy, and genetic counseling. METHODS: A molecular diagnosis was performed on a 51-year-old woman diagnosed with HCM using a next-generation sequencing workflow based on a panel designed for sequencing the most prevalent cardiomyopathy-causing genes...
March 16, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29525643/genetic-pathogenesis-of-hypertrophic-and-dilated-cardiomyopathy
#9
REVIEW
Amanda C Garfinkel, Jonathan G Seidman, Christine E Seidman
Sarcomere cardiomyopathies are genetic diseases that perturb contractile function and lead to hypertrophic or dilated myocardial remodeling. Identification of preclinical mutation carriers has yielded insights into the earliest biomechanical defects that link pathogenic variants to cardiac dysfunction. Understanding this early molecular pathophysiology can illuminate modifiable pathways to reduce the emergence of overt cardiomyopathy and curb adverse outcomes. Here, the authors review current understandings of how human hypertrophic cardiomyopathy- and hypertrophic dilated cardiomyopathy-linked mutations disrupt the normal structure and function of the sarcomere...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29524613/whole-exome-sequencing-identifies-rare-compound-heterozygous-mutations-in-the-mybpc3-gene-associated-with-severe-familial-hypertrophic-cardiomyopathy
#10
Nianwei Zhou, Shengmei Qin, Yili Liu, Lu Tang, Weipeng Zhao, Cuizhen Pan, Zilong Qiu, Xiaolin Wang, Xianhong Shu
Most patients with hypertrophic cardiomyopathy have single-gene autosomal dominant mutations in loci that encode for sarcomeric proteins. The aim of this study was to determine whether pathogenic mutations were present by whole-exome sequencing (WES) in two families with hypertrophic cardiomyopathy (HCM) that presented during adolescence. Blood samples and clinical data were collected from individuals in two families with HCM. DNA was extracted. Mutations were identified using whole-exome sequencing (WES), and the genotypes of family members were identified using Sanger sequencing...
March 7, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29523227/usefulness-of-urinary-n-terminal-fragment-of-titin-to-predict-mortality-in-dilated-cardiomyopathy
#11
Akiomi Yoshihisa, Yusuke Kimishima, Takatoyo Kiko, Yu Sato, Shunsuke Watanabe, Yuki Kanno, Satoshi Abe, Makiko Miyata, Takamasa Sato, Satoshi Suzuki, Masayoshi Oikawa, Atsushi Kobayashi, Takayoshi Yamaki, Hiroyuki Kunii, Kazuhiko Nakazato, Takafumi Ishida, Yasuchika Takeishi
Titin is associated with myocardial stiffness and hypertrophy, and mutations in its gene have been identified in cardiac myopathies such as dilated cardiomyopathy (DC). It has recently been reported that in damaged muscle, the N-terminal fragment of titin (Titin-N) is cleaved by calpain-3, and urinary Titin-N (U-TN) could be a marker of sarcomere damage. We aimed to investigate the impact of U-TN on prognosis of DC. We measured urinary levels of Titin-N/creatinine ratio (U-TN/Cr; pmol/mg/dl) in 102 patients with DC, and followed up all the patients (mean 1,167 days)...
February 12, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29514098/ceramide-protein-interactions-modulate-ceramide-associated-lipotoxic-cardiomyopathy
#12
Stanley M Walls, Anthony Cammarato, Dale A Chatfield, Karen Ocorr, Greg L Harris, Rolf Bodmer
Lipotoxic cardiomyopathy (LCM) is characterized by abnormal myocardial accumulation of lipids, including ceramide; however, the contribution of ceramide to the etiology of LCM is unclear. Here, we investigated the association of ceramide metabolism and ceramide-interacting proteins (CIPs) in LCM in the Drosophila heart model. We find that ceramide feeding or ceramide-elevating genetic manipulations are strongly associated with cardiac dilation and defects in contractility. High ceramide-associated LCM is prevented by inhibiting ceramide synthesis, establishing a robust model of direct ceramide-associated LCM, corroborating previous indirect evidence in mammals...
March 6, 2018: Cell Reports
https://www.readbyqxmd.com/read/29506729/common-presentation-of-rare-diseases-left-ventricular-hypertrophy-and-diastolic-dysfunction
#13
Ales Linhart, Franco Cecchi
Left ventricular hypertrophy may be a consequence of a hemodynamic overload or a manifestation of several diseases affecting different structural and functional proteins of cardiomyocytes. Among these, sarcomeric hypertrophic cardiomyopathy (HCM) represents the most frequent cause. In addition, several metabolic diseases lead to myocardial thickening, either due to intracellular storage (glycogen storage and lysosomal diseases), extracellular deposition (TTR and AL amyloidosis) or due to abnormal energy metabolism (mitochondrial diseases)...
April 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29490477/hypertrophic-cardiomyopathy-a-vicious-cycle-triggered-by-sarcomere-mutations-and-secondary-disease-hits
#14
Paul Wijnker, Vasco Sequeira, Diederik Kuster, Jolanda van der Velden
SIGNIFICANCE: Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. Disease onset occurs between 20 and 50 years of age, thus affecting patients in the prime of their life. HCM is caused by mutations in sarcomere proteins, the contractile building blocks of the heart. Despite increased knowledge of causal mutations, the exact path from genetic defect leading to cardiomyopathy is complex and involves additional disease hits...
February 28, 2018: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29463717/sarcomeric-perturbations-of-myosin-motors-lead-to-dilated-cardiomyopathy-in-genetically-modified-myl2-mice
#15
Chen-Ching Yuan, Katarzyna Kazmierczak, Jingsheng Liang, Zhiqun Zhou, Sunil Yadav, Aldrin V Gomes, Thomas C Irving, Danuta Szczesna-Cordary
Dilated cardiomyopathy (DCM) is a devastating heart disease that affects about 1 million people in the United States, but the underlying mechanisms remain poorly understood. In this study, we aimed to determine the biomechanical and structural causes of DCM in transgenic mice carrying a novel mutation in the MYL2 gene, encoding the cardiac myosin regulatory light chain. Transgenic D94A (aspartic acid-to-alanine) mice were created and investigated by echocardiography and invasive hemodynamic and molecular structural and functional assessments...
February 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29452157/hypertrophic-cardiomyopathy-mutation-r58q-in-the-myosin-regulatory-light-chain-perturbs-thick-filament-based-regulation-in-cardiac-muscle
#16
Thomas Kampourakis, Saraswathi Ponnam, Malcolm Irving
Hypertrophic cardiomyopathy (HCM) is frequently linked to mutations in the protein components of the myosin-containing thick filaments leading to contractile dysfunction and ultimately heart failure. However, the molecular structure-function relationships that underlie these pathological effects remain largely obscure. Here we chose an example mutation (R58Q) in the myosin regulatory light chain (RLC) that is associated with a severe HCM phenotype and combined the results from a wide range of in vitro and in situ structural and functional studies on isolated protein components, myofibrils and ventricular trabeculae to create an extensive map of structure-function relationships...
February 13, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29451820/the-hcm-linked-w792r-mutation-in-cardiac-myosin-binding-protein-c-reduces-c6-fniii-domain-stability
#17
Dan F Smelter, Willem J De Lange, Wenxuan Cai, Ying Ge, John C Ralphe
Cardiac myosin binding protein-C (cMyBP-C) is a functional sarcomeric protein that regulates contractility in response to contractile demand, and many mutations in cMyBP-C lead to hypertrophic cardiomyopathy (HCM). To gain insight into the effects of disease-causing cMyBP-C missense mutations on contractile function, we expressed the pathogenic W792R mutation in mouse cardiomyocytes lacking endogenous cMyBP-C and studied the functional effects using three-dimensional engineered cardiac tissue (mECT) constructs...
February 16, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29451818/overexpression-of-heart-specific-small-subunit-of-myosin-light-chain-phosphatase-results-in-heart-failure-and-conduction-disturbance
#18
Takuro Arimura, Antoine Muchir, Masayoshi Kuwahara, Sachio Morimoto, Taisuke Ishikawa, Cheng-Kun Du, Dong-Yun Zhan, Shu Nakao, Noboru Machida, Ryo Tanaka, Yoshihisa Yamane, Takeharu Hayashi, Akinori Kimura
Mutations in genes encoding components of sarcomere cause cardiomyopathy, which is often associated with abnormal Ca 2+ sensitivity of muscle contraction. We previously showed that a heart-specific myosin light chain phosphatase small subunit, hHS-M 21 , increases the Ca 2+ -sensitivity of muscle contraction. The aim of this study was to investigate the function of hHS-M 21 in vivo and the causative role of abnormal Ca 2+ sensitivity in cardiomyopathy. We generated transgenic (Tg) mice with cardiac-specific overexpression of hHS-M 21 ...
February 16, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29416706/troponin-through-the-looking-glass-emerging-roles-beyond-regulation-of-striated-muscle-contraction
#19
REVIEW
Jamie R Johnston, P Bryant Chase, Jose Renato Pinto
Troponin is a heterotrimeric Ca2+-binding protein that has a well-established role in regulating striated muscle contraction. However, mounting evidence points to novel cellular functions of troponin, with profound implications in cancer, cardiomyopathy pathogenesis and skeletal muscle aging. Here, we highlight the non-canonical roles and aberrant expression patterns of troponin beyond the sarcomeric milieu. Utilizing bioinformatics tools and online databases, we also provide pathway, subcellular localization, and protein-protein/DNA interaction analyses that support a role for troponin in multiple subcellular compartments...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29414430/surgical-pathology-of-subaortic-septal-myectomy-histology-skips-over-clinical-diagnosis
#20
João Abecasis, Rosa Gouveia, Mariana Castro, Maria João Andrade, Regina Ribeiras, Sância Ramos, Miguel Abecasis, Nuno Cardim, Victor Gil
BACKGROUND: Subaortic septal myectomy is usually performed to mitigate obstruction in patients with the obstructive form of hypertrophic cardiomyopathy (HCM) or in those with congenital subaortic stenosis. Moreover, it is combined with aortic valve replacement in patients with severe aortic valve stenosis (SAS) and asymmetrical septal hypertrophy causing concomitant left ventricular outflow tract obstruction. When both conditions coexist, it is conceptually difficult to identify a cardiomyopathy beyond an adaptive myocardial hypertrophy, strictly related to pressure overload...
January 3, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
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