Results 51 to 60 of about 413,499 (385)

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

COVID-19 in Adults With Hypertrophic Cardiomyopathy

Frontiers in Cardiovascular Medicine, 2021
Background: Individuals with cardiovascular disease are considered high risk for severe COVID-19. However, the clinical impact of COVID-19 in patients with hypertrophic cardiomyopathy (HCM) is unknown.
Milla E. Arabadjian, Maria C. Reuter, Alexandra Stepanovic, Mark V. Sherrid, Daniele Massera   +4 more
doaj   +1 more source

Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Circulation Research, 2017
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction.
A. Marian, E. Braunwald
semanticscholar   +1 more source

Cardiomyopathies in the elderly [PDF]

Journal of the American College of Cardiology, 1987
Cardiomyopathies in the elderly have certain characteristic features. The dilated form appears to be less common than in younger patients. Hypertrophic cardiomyopathy is more often associated with severe and concentric hypertrophy. The prognosis of hypertrophic cardiomyopathy seems to be better in the elderly, because they appear to have a lower ...
Walter H. Abelmann, Bernard J. Gersh, Pravin M. Shah   +2 more
openaire   +2 more sources

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Automated segmentation of left ventricular myocardium using cascading convolutional neural networks based on echocardiography

AIP Advances, 2021
Quickly and accurately segmenting the left ventricular (LV) myocardium from ultrasound images and measuring the thickness of the interventricular septum and LV wall play an important role in hypertrophic cardiomyopathy.
Shenghan Ren, Yongbing Wang, Rui Hu, Lei Zuo, Liwen Liu, Heng Zhao   +5 more
doaj   +1 more source

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation, 2020
Supplemental Digital Content is available in the text. Background: Mutations in desmoplakin (DSP), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy that has been variably ...
Eric Smith, N. Lakdawala, N. Papoutsidakis, G. Aubert, A. Mazzanti, Anthony C. McCanta, P. Agarwal, P. Arscott, Lisa M. Dellefave‐Castillo, E. Vorovich, K. Nutakki, L. Wilsbacher, S. Priori, D. Jacoby, E. McNally, A. Helms   +15 more
semanticscholar   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source

Syndrome of Reversible Cardiogenic Shock and Left Ventricular Ballooning in Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Cardiogenic shock from most causes has unfavorable prognosis. Hypertrophic cardiomyopathy (HCM) can uncommonly present with apical ballooning and shock in association with sudden development of severe and unrelenting left ventricular (LV ...
Mark V. Sherrid, Daniel G. Swistel, Iacopo Olivotto, Maurizio Pieroni, Omar Wever‐Pinzon, Katherine Riedy, Richard G. Bach, Mustafa Husaini, Sharon Cresci, Alex Reyentovich, Daniele Massera, Martin S. Maron, Barry J. Maron, Bette Kim   +13 more
doaj   +1 more source

Redefining Cirrhotic Cardiomyopathy for the Modern Era

Hepatology, 2020
Cirrhotic cardiomyopathy (CCM) is cardiac dysfunction in patients with end‐stage liver disease in the absence of prior heart disease. First defined in 2005 during the World Congress of Gastroenterology, CCM criteria consisted of echocardiographic ...
M. Izzy, L. VanWagner, G. Lin, M. Altieri, J. Findlay, J. Oh, K. Watt, Samuel S. Lee   +7 more
semanticscholar   +1 more source