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Hypertrophic cardiac myopathy

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https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#1
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27834932/functional-studies-and-in-silico-analyses-to-evaluate-non-coding-variants-in-inherited-cardiomyopathies
#2
Giulia Frisso, Nicola Detta, Pamela Coppola, Cristina Mazzaccara, Maria Rosaria Pricolo, Antonio D'Onofrio, Giuseppe Limongelli, Raffaele Calabrò, Francesco Salvatore
Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic variants can reveal their impact on the splicing process, but the consequence of a given substitution is generally not predictable. The aim of this study was to functionally test five intronic variants (MYBPC3-c.506-2A>C, MYBPC3-c...
November 10, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27816333/ischemic-stroke-due-to-hypoperfusion-in-a-patient-with-a-previously-unrecognized-danon-disease
#3
Marco Marino, Olimpia Musumeci, Giuseppe Paleologo, Maria Cucinotta, Alba Migliorato, Carmelo Rodolico, Antonio Toscano
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain. ECG showed Wolff-Parkinson-White syndrome; echocardiography revealed hypertrophic cardiomyopathy, and, shortly after, he experienced a cardiac arrest followed by an occipital ischemic stroke...
October 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27721798/cardiac-troponin-and-tropomyosin-structural-and-cellular-perspectives-to-unveil-the-hypertrophic-cardiomyopathy-phenotype
#4
Mayra de A Marques, Guilherme A P de Oliveira
Inherited myopathies affect both skeletal and cardiac muscle and are commonly associated with genetic dysfunctions, leading to the production of anomalous proteins. In cardiomyopathies, mutations frequently occur in sarcomeric genes, but the cause-effect scenario between genetic alterations and pathological processes remains elusive. Hypertrophic cardiomyopathy (HCM) was the first cardiac disease associated with a genetic background. Since the discovery of the first mutation in the β-myosin heavy chain, more than 1400 new mutations in 11 sarcomeric genes have been reported, awarding HCM the title of the "disease of the sarcomere...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27692944/alglucosidase-alfa-enzyme-replacement-therapy-as-a-therapeutic-approach-for-a-patient-presenting-with-a-prkag2-mutation
#5
Stephanie L Austin, Andrew Chiou, Baodong Sun, Laura E Case, Kenny Govendrageloo, Perrin Hansen, Priya S Kishnani
OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with alglucosidase-alfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutation in the GAA gene...
September 28, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27683561/mybpc1-an-emerging-myopathic-gene-what-we-know-and-what-we-need-to-learn
#6
REVIEW
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
https://www.readbyqxmd.com/read/27519903/two-novel-myh7-proline-substitutions-cause-laing-distal-myopathy-like-phenotypes-with-variable-expressivity-and-neck-extensor-contracture
#7
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
https://www.readbyqxmd.com/read/27497751/a-novel-lamp2-mutation-associated-with-severe-cardiac-hypertrophy-and-microvascular-remodeling-in-a-female-with-danon-disease-a-case-report-and-literature-review
#8
Irene Bottillo, Carla Giordano, Bruna Cerbelli, Daniela D'Angelantonio, Martina Lipari, Taisia Polidori, Silvia Majore, Enrico Bertini, Adele D'Amico, Diana Giannarelli, Carmelilia De Bernardo, Laura Masuelli, Francesco Musumeci, Andrea Avella, Federica Re, Elisabetta Zachara, Giulia d'Amati, Paola Grammatico
BACKGROUND: Danon disease (DD) is a rare disorder characterized by cardiomyopathy, intellectual disability, and proximal myopathy. It is caused by mutations in the LAMP2 gene on X chromosome. Female patients most often present with late-onset cardiomyopathy and slow disease progression, but early-onset cases with unfavorable prognosis have been reported. CASE REPORT: We describe the clinical, pathological, and molecular features of a novel LAMP2 c.453delT mutation in a female patient with severe hypertrophic cardiomyopathy, Wolff Parkinson White (WPW) syndrome and rapid progression to heart failure, requiring heart transplant...
September 2016: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/27460667/identification-of-lamp2-mutations-in-early-onset-danon-disease-with-hypertrophic-cardiomyopathy-by-targeted-next-generation-sequencing
#9
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
https://www.readbyqxmd.com/read/27387980/myh7-related-myopathies-clinical-histopathological-and-imaging-findings-in-a-cohort-of-italian-patients
#10
C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, M Pedemonte, R Trovato, L Ruggiero, L Vercelli, A D'Amico, G Tasca, M Pane, M Fanin, L Bello, P Broda, O Musumeci, C Rodolico, S Messina, G L Vita, M Sframeli, S Gibertini, L Morandi, M Mora, L Maggi, A Petrucci, R Massa, M Grandis, A Toscano, E Pegoraro, E Mercuri, E Bertini, T Mongini, L Santoro, V Nigro, C Minetti, F M Santorelli, C Bruno
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27378946/molecular-and-functional-effects-of-a-splice-site-mutation-in-the-myl2-gene-associated-with-cardioskeletal-myopathy-and-early-cardiac-death-in-infants
#11
Zhiqun Zhou, Wenrui Huang, Jingsheng Liang, Danuta Szczesna-Cordary
The homozygous appearance of the intronic mutation (IVS6-1) in the MYL2 gene encoding for myosin ventricular/slow-twitch skeletal regulatory light chain (RLC) was recently linked to the development of slow skeletal muscle fiber type I hypotrophy and early cardiac death. The IVS6-1 (c403-1G>C) mutation resulted from a cryptic splice site in MYL2 causing a frameshift and replacement of the last 32 codons by 19 different amino acids in the RLC mutant protein. Infants who were IVS6-1(+∕+)-positive died between 4 and 6 months of age due to cardiomyopathy and heart failure...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27324845/cryo-em-structure-of-a-human-cytoplasmic-actomyosin-complex-at-near-atomic-resolution
#12
Julian von der Ecken, Sarah M Heissler, Salma Pathan-Chhatbar, Dietmar J Manstein, Stefan Raunser
The interaction of myosin with actin filaments is the central feature of muscle contraction and cargo movement along actin filaments of the cytoskeleton. The energy for these movements is generated during a complex mechanochemical reaction cycle. Crystal structures of myosin in different states have provided important structural insights into the myosin motor cycle when myosin is detached from F-actin. The difficulty of obtaining diffracting crystals, however, has prevented structure determination by crystallography of actomyosin complexes...
June 30, 2016: Nature
https://www.readbyqxmd.com/read/27282841/distal-myopathy-with-coexisting-heterozygous-tia1-and-myh7-variants
#13
Patricio Brand, P James B Dyck, Jie Liu, Sarah Berini, Duygu Selcen, Margherita Milone
TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac involvement. Muscle biopsy showed rare rimmed vacuoles, minicore-like structures and congophilic inclusions. Her 66-year-old sister has a mild distal myopathy, supraventricular tachycardia and hypertrophic cardiomyopathy...
August 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27014341/heart-disease-in-disorders-of-muscle-neuromuscular-transmission-and-the-nerves
#14
REVIEW
Josef Finsterer, Claudia Stöllberger
Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved...
March 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/26712328/melas-syndrome-and-cardiomyopathy-linking-mitochondrial-function-to-heart-failure-pathogenesis
#15
REVIEW
Ying-Han R Hsu, Haran Yogasundaram, Nirmal Parajuli, Lucas Valtuille, Consolato Sergi, Gavin Y Oudit
Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Cardiac dysfunction occurs in approximately a third of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, a stereotypical example of a mitochondrial disorder leading to a cardiomyopathy...
January 2016: Heart Failure Reviews
https://www.readbyqxmd.com/read/26615382/diagnosing-mitochondrial-disorder-without-sophisticated-means
#16
Josef Finsterer, Marlies Frank
Mitochondrial disorders (MIDs) require biochemical or genetic investigations for being diagnosed. In some cases, however, the diagnosis can be suspected upon the syndromic phenotype or upon clinical presentation and family history, as in the following case. The patient was a 74-year-old male admitted for worsening of pre-existing left-sided ptosis and ophthalmoparesis after a birthday party. The history was positive for arterial hypertension, hypertrophic cardiomyopathy with systolic dysfunction, diabetes-type 2, mild renal insufficiency, thyroiditis, and polyneuropathy...
October 2015: Acta Medica Iranica
https://www.readbyqxmd.com/read/26507755/review-of-cardiac-disease-in-nemaline-myopathy
#17
REVIEW
Josef Finsterer, Claudia Stöllberger
OBJECTIVES: Little is known about the type, frequency, severity, treatment, and outcome of cardiac disease in nemaline myopathy. This review summarizes and discusses findings concerning the type, prevalence, diagnosis, treatment, and outcome of cardiac involvement in nemaline myopathy. METHODS: Review of publications about nemaline myopathy and cardiac disease. RESULTS: Altogether, 35 patients with nemaline myopathy with cardiac disease were identified...
December 2015: Pediatric Neurology
https://www.readbyqxmd.com/read/26197853/the-emerging-role-of-cardiovascular-magnetic-resonance-imaging-in-the-evaluation-of-metabolic-cardiomyopathies
#18
REVIEW
S Mavrogeni, G Markousis-Mavrogenis, V Markussis, G Kolovou
The aim of this review is to discuss the role of Cardiovascular Magnetic Resonance (CMR) in the diagnosis, risk stratification, and follow-up of metabolic cardiomyopathies. The classification of myocardial diseases, proposed by WHO/ISFC task force, distinguished specific cardiomyopathies, caused by metabolic disorders, into 4 types: 1) endocrine disorders, 2) storage or infiltration disorders (amyloidosis, hemochromatosis and familial storage disorders), 3) nutritional disorders (Kwashiorkor, beri-beri, obesity, and alcohol), and 4) diabetic heart...
August 2015: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/26097489/desmin-common-mutation-is-associated-with-multi-systemic-disease-manifestations-and-depletion-of-mitochondria-and-mitochondrial-dna
#19
Elizabeth M McCormick, Lawrence Kenyon, Marni J Falk
Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children's Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for evaluation of progressive cardiac, neuromuscular, gastrointestinal, and mood disorders. Muscle biopsy at age 45 was remarkable for cytoplasmic bodies, as well as ragged red fibers and SDH positive/COX negative fibers that were suggestive of a mitochondrial myopathy...
2015: Frontiers in Genetics
https://www.readbyqxmd.com/read/26001801/characteristic-cardiac-phenotypes-are-detected-by-cardiovascular-magnetic-resonance-in-patients-with-different-clinical-phenotypes-and-genotypes-of-mitochondrial-myopathy
#20
COMPARATIVE STUDY
Anca Florian, Anna Ludwig, Bianca Stubbe-Dräger, Matthias Boentert, Peter Young, Johannes Waltenberger, Sabine Rösch, Udo Sechtem, Ali Yilmaz
BACKGROUND: Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography have revealed cardiac abnormalities ranging from conduction abnormalities and arrhythmias to hypertrophic or dilated cardiomyopathy in these patients. Recently, characteristic patterns of cardiac involvement were documented by cardiovascular magnetic resonance (CMR) in patients with chronic progressive external ophthalmoplegia (CPEO)/Kearns-Sayre syndrome (KSS) and with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)...
2015: Journal of Cardiovascular Magnetic Resonance
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