Results 51 to 60 of about 347,198 (324)

MRI Characteristics, Prevalence, and Outcomes of Hypertrophic Cardiomyopathy with Restrictive Phenotype.

Radiology: Cardiothoracic Imaging, 2020
Purpose To investigate the MRI characteristics, prevalence, and outcomes of hypertrophic cardiomyopathy (HCM) with restrictive phenotype. Materials and Methods A total of 2592 consecutive patients with HCM were evaluated to identify individuals who ...
Shuang Li, Bailing Wu, G. Yin, Lei Song, Yong Jiang, Jinghan Huang, Shihua Zhao, Minjie Lu   +7 more
semanticscholar   +1 more source

Restrictive Cardiomyopathy

, 2021
Restrictive cardiomyopathy (RCM) is distinguished by diastolic dysfunction in a non-dilated ventricle. Multiple types of restrictive cardiomyopathies vary according to pathogenesis, clinical presentation, diagnostic evaluation, treatment, and prognosis ...
Brown, Kristen N, Diaz, Rene R, Pendela, Venkata Satish   +2 more
core  

A Novel Missense Variant in MYL2 Gene Associated with Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.

Circulation Genomic and Precision Medicine, 2020
Hypertrophic cardiomyopathy (HCM) is the most frequent inherited cardiac disease and its prognosis can be severely worsened by the presence of restrictive filling pattern and atrial fibrillation (AF). Here we report a novel, highly penetrant MYL2 variant
M. De Bortoli, Riccardo Vio, C. Basso, M. Calore, Giovanni Minervini, A. Angelini, P. Melacini, L. Vitiello, G. Vazza, G. Thiene, Silvio C. E. Tosatto, D. Corrado, S. Iliceto, A. Rampazzo, C. Calore   +14 more
semanticscholar   +1 more source

Successful management of diastolic heart failure in a patient with restrictive cardiomyopathy following an anterior communicating artery aneurysm clipping

Journal of Neuroanaesthesiology and Critical Care, 2017
Perioperative management of neurosurgical patients with an underlying myocardial dysfunction poses a unique challenge to the neuroanaesthesiologist and the neurointensivist.
Rajasekar Arumugam, Georgene Singh, Krishnaprabhu Raju, Ramamani Mariappan   +3 more
doaj   +3 more sources

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy

JIMD Reports, 2020
We report a patient diagnosed with PGM1‐CDG at 11 years of age after two biallelic likely pathogenic variants in PGM1 were found on research genomic sequencing.
Sarah E Donoghue, S. White, T. Tan, Remi Kowalski, E. Morava, E. Morava, J. Yaplito-Lee, J. Yaplito-Lee   +7 more
semanticscholar   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Himalayan P in a Toddler with Idiopathic Restrictive Cardiomyopathy with a Brief Electrocardiographic Review

Indian Journal of Clinical Cardiology
Although Himalayan P waves are not uncommon in congenital heart diseases involving the tricuspid valve, it is rare in pediatric idiopathic restrictive cardiomyopathy.
Sedhupathi Shanmugam, Sudipta Mondal, Saurav Banerjee   +2 more
doaj   +1 more source

Idiopathic restrictive cardiomyopathy - perspectives from genetics studies. Is it time to redefine these disorders?

Cardiogenetics, 2012
Idiopathic restrictive cardiomyopathy (IRC) is a rare form of heart muscle disease. Genetic studies have revealed that in about half the cases, IRC forms part of the hereditary sarcomeric contractile protein disease spectrum.
Ajay Bahl, Uma Nahar Saikia, Madhu Khullar   +2 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Primary restrictive cardiomyopathy: Clinical and pathologic characteristics

, 1991
Twenty-four patients with restrictive cardiomyopathy were identified at St. Thomas' Hospital during a 17-year period. All had endomyocardial biopsy, but in two patients the biopsy specimens were small and nondiagnostic. Seven patients had amyloidosis and
Davies, Michael J., Webb-Peploe, Michael M., Katritsis, Demosthenes, Wendon, Julia A., Wilmshurst, Peter T.   +4 more
core   +1 more source