Results 51 to 60 of about 570,477 (309)

A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers [PDF]

, 2011
Dilated cardiomyopathy (DCM) is a heterogeneous group of heart diseases with a strong genetic background. Currently, many human DCM cases exist where no causative mutation can be identified.
Matthew T. Webster, Gerhard Wess, Stephenson Hannah, Hannah Stephenson, Wess, G., Stephenson, Hannah, Cord Drögemüller, Webster, Matthew T., Mausberg, T.B., Webster, Matthew T.,, Webster, M.T., Dukes-McEwan, Joanna, Keller Lisa, Stephenson, H., Drögemüller, Michaela, Matthew T Webster, Leeb Tosso, Simak Julia, Droegemueller, Cord, Keller, L., Lisa Keller, Simak, J., Michaela Drögemüller, Simak, Julia, Dukes-McEwan, J., Joanna Dukes-McEwan, Tosso Leeb, Wess Gerhard, Mausberg, Theresa-Bernadette, Theresa-Bernadette Mausberg, Mausberg Theresa-Bernadette, Webster Matthew T., Droegemueller, Michaela, Wess, Gerhard, Drögemüller Cord, Drögemüller, Cord, Leeb, Tosso, Dukes-McEwan Joanna, Julia Simak, Drögemüller Michaela, Keller, Lisa   +40 more
core   +2 more sources

Restrictive Cardiomyopathy: A Rare Case Report [PDF]

Al Ameen Journal of Medical Sciences, 2011
We report a 28 years old male presenting with heart failure. A thorough clinical evaluation directed us towards restrictive heart disease. Doppler echocardiographic study was used as a main modality of diagnosis and cardiac catheterization confirmed the ...
Bilal Bin Abdullah*, Mehboob.M.Kalburgi, Sahana Shetty and Satyasrinivas
doaj  

Restrictive cardiomyopathy: difficulties desminopathy diagnostics

Российский кардиологический журнал, 2019
The article provides a brief overview of the problems of diagnostics and etiological verification of restrictive cardiomyopathy (RCMP). Multiple causes lead to the restrictive phenotype of intracardiac hemodynamics and diastolic dysfunction of the heart:
T. G. Vaikhanskaya, T. M. Kaptsiukh, T. V. Kurushko, L. N. Sivitskaya, O. D. Liaudanski, N. G. Danilenko   +5 more
doaj   +1 more source

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, Tiong Y. Tan, R. Kowalski, Eva Morava, Joy Yaplito-Lee   +5 more
semanticscholar   +1 more source

A case report: Twin sisters with restrictive cardiomyopathy associated with rare mutations in the cardiac troponin I gene.

Journal of Cardiology Cases, 2020
Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy in children, and its prognosis until now, has been poor. Recently some sarcomeric mutations have been reported as disease-causing genes of RCM.
M. Ueno, A. Takeda, Hirokuni Yamazawa, Kohta Takei, Takuo Furukawa, Yasuto Suzuki, Ayako Chida-Nagai, A. Kimura   +7 more
semanticscholar   +1 more source

Troponin I mutation associated with Restrictive Cardiomyopathy

, 2020
In our study, TNNI3 gene exons were sequenced in terms to analyse the association between RCM and TNNI3 gene mutation in Indian Patients. We found a novel variant associated with severe form of restrictive cardiomyopathy with mild hypertrophy. This study
Rao, V (via Mendeley Data)
core   +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

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

Genes, 2019
Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block.
A. Brodehl, Seyed Ahmad Pour Hakimi, C. Stanasiuk, S. Ratnavadivel, D. Hendig, A. Gaertner, B. Gerull, J. Gummert, L. Paluszkiewicz, H. Milting   +9 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