Results 31 to 40 of about 13,305 (193)

HYPERTROPHIC CARDIOMYOPATHY AND MYOCARDIAL CRYPT OF THE LEFT VENTRICLE

Российский кардиологический журнал, 2017
First time, myocardial clefty were described more than 20 years ago in autopsy of patients with hypertrophic cardiomyopathy (HCMP): the “fissure” along muscle fibers in interventricular septum.
Yu. V. Frolova, O. V. Dymova, E. V. Zaklyazminskaya, M. E. Polyak, E. A. Mershina, V. E. Sinitsin, S. L. Dzemeshkevich   +6 more
doaj   +1 more source

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source

Autopsy of a patient with restrictive cardiomyopathy with and MYH7 mutation

Human Pathology Reports, 2021
Restrictive cardiomyopathy (RCM) is a rare type of primary myocardial disease, and its pathological features remain unclear. We report the case of a 78-year-old Japanese woman with RCM and MHY7 mutation who died of heart failure 13 years after the diagnosis. Upon autopsy, focal myocyte amorphous degeneration positive for ubiquitin was revealed, as well
Hiroaki Kawano, Koichi Kawamura, Munetake Kanda, Nozomi Ueki, Muneo Tanigawa, Mitsuaki Ishijima, Yuji Matsumoto, Masahiro Nakashima, Koji Maemura   +8 more
openaire   +2 more sources

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy

BMC Cardiovascular Disorders, 2020
Background Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3)
Lazar Velicki, Djordje G. Jakovljevic, Andrej Preveden, Miodrag Golubovic, Marija Bjelobrk, Aleksandra Ilic, Snezana Stojsic, Fausto Barlocco, Maria Tafelmeier, Nduka Okwose, Milorad Tesic, Paul Brennan, Dejana Popovic, Arsen Ristic, Guy A. MacGowan, Nenad Filipovic, Lars S. Maier, Iacopo Olivotto   +17 more
doaj   +1 more source

Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene

BioTechniques, 2020
Mutations in the human MYH7 gene, encoding a slow skeletal muscle/β-cardiac myosin heavy chain, cause different types of myopathies. The nematode model Caenorhabditis elegans has frequently been employed to study the molecular and physiological ...
Alejandro Gil-Gálvez, Pilar Carbonell-Corvillo, Carmen Paradas, Antonio Miranda-Vizuete   +3 more
doaj   +1 more source

A novel mutation of the MYH7 gene in a patient with hypertrophic cardiomyopathy [PDF]

The Turkish Journal of Pediatrics, 2018
Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by asymmetric cardiac hypertrophy due to inherited mutations in genes that encode sarcomeric proteins. MYH7, which encodes β-myosin heavy chain, is among the most commonly mutated genes in patients affected by HCM.
Nicholas Goel, Charles B Huddleston, Andrew C Fiore   +2 more
openaire   +3 more sources

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations

Stem Cell Research, 2021
MYH7 heterozygous mutations are common genetic causes of hypertrophic cardiomyopathy (HCM). HCM is characterized by hypertrophy of the left ventricle and diastolic dysfunction.
Xu Cao, James W.S. Jahng, Chelsea Lee, Yanjun Zha, Matthew T. Wheeler, Karim Sallam, Joseph C. Wu   +6 more
doaj   +1 more source

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7 [PDF]

, 2011
Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium.
Moorman, A.F.M., van de Meerakker, J. B A, Keavney, B., J. W. Roos-Hesselink, Postma, A. V., van de Meerakker, J. B. A., Mulder, B., Mulder, B.J., Rahman, T., A. F. M. Moorman, A. T. J. M. Helderman-van den Enden, Roos-Hesselink, J. W., Sels, J., van de Meerakker, JBA, Mulder, B. J. M., Klaassen, S, Baars, M.J.H., Engelen, K. van, B. J. M. Mulder, B. Keavney, Sperling, S. R., Mulder, B.J.M., Sels, J-W, M. J. H. Baars, Keavney, B, Vliegen, H.W., Goodship, J., Vliegen, H., Moorman, A. F. M., Rahman, T, U. Bauer, Helderman-van d Enden, ATJM, Sels, JW, Vliegen, H. W., Helderman-van den Enden, A., Helderman-Van den Enden, A. T J M, Baars, M., S. Klaassen, Sels, J.W., Helderman-van den Enden, A.T.J.M., Klaassen, S., Baars, M. J H, Moorman, A. F M, S. R. Sperling, Mulder, BJM, Roos-Hesselink, J.W., Meerakker, J.B.A. van de, Sperling, SR, T. Pickardt, Postma, A., Roos - Hesselink, Jolien; id_orcid, van Engelen, K., Moorman, A., Pickardt, T., J. Goodship, K. van Engelen, Goodship, J, Sels, J. W., T. Rahman, Mulder, B. J M, J. B. A. van de Meerakker, Engelen, K, Moorman, AFM, J-W Sels, Bauer, U, Postma, A.V., van de Meerakker, J.B.A., H. W. Vliegen, Sperling, S., Sperling, S.R., Bauer, U., Vliegen, HW, Helderman-van den Enden, A. T. J. M., A. V. Postma, Postma, AV, Pickardt, T, Baars, MJH, Baars, M. J. H., Roos-Hesselink, J., van de Meerakker, J.   +79 more
core   +5 more sources

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Orphanet Journal of Rare Diseases, 2022
Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac ...
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr   +9 more
doaj   +1 more source

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy [PDF]

, 2017
HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the
Theresia Kraft, Anne-Kathrin Mayer, Ernstberger, P., Kraft, T., Ho, C.Y., van der Velden, J., Bernhard Brenner, Becker, E., Anna-Lena Weber, Andreas Perrot, Dos Remedios, C., Britta Keyser, Francino, A., Brenner, B., Cristobal dos Remedios, Rose, J., Pia Ernstberger, Judith Montag, Antonio Francino, Montag, J., Perrot, A., Edgar Becker, Julia Rose, Navarro-Lopez, F., Mandy Syring, Keyser, B., Francesco Navarro-Lopez, Syring, M., Jolanda van der Velden, Carolyn Yung Ho, Weber, A.L., Mayer, A.K.   +31 more
core   +1 more source