Results 91 to 100 of about 484,321 (343)

Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells [PDF]

, 2021
Xue Jiang, Yihuan Chen, Xiaofeng Liu, Lingqun Ye, Miao Yu, Zhenya Shen, Wei Lei, Shijun Hu   +7 more
openalex   +1 more source

Association of PET-measured myocardial flow reserve with echocardiography-estimated pulmonary artery systolic pressure in patients with hypertrophic cardiomyopathy [PDF]

, 2019
BackgroundPulmonary hypertension (PH) is a known complication of HCM and is a strong predictor of mortality. We aim to investigate the relationship between microvascular dysfunction measured by quantitative PET and PH in HCM patients.MethodsEighty-nine ...
Leal, Jeffrey P, Liu, Min, Pomper, Martin G, Tsui, Benjamin M. W., Wong, Dean F, Zhao, Min, Zhou, Yun   +6 more
core   +3 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Abnormal ECG Findings in Athletes: Clinical Evaluation and Considerations. [PDF]

, 2019
PURPOSE OF REVIEW: Pre-participation cardiovascular evaluation with electrocardiography is normal practice for most sporting bodies. Awareness about sudden cardiac death in athletes and recognizing how screening can help identify vulnerable athletes have
A Biffi, A Biffi, A D’Silva, A D’Silva, A Magalski, A Malhotra, A Malhotra, A Malhotra, A Merghani, A Morshedi-Meibodi, A Pelliccia, A Pelliccia, A Zaidi, A Zaidi, A Zorzi, A Zorzi, A Zorzi, AD Desai, AL Aro, AL Rao, AO Usoro, BJ Maron, BJ Maron, C Antzelevitch, C Calore, C Daubert, C Miles, D Corrado, D Corrado, D Corrado, D Corrado, F D’Ascenzi, F Migliore, F Schnell, FI Marcus, G Finocchiaro, G Malfatto, G Mcclean, GJ Klein, GJ Klein, H Dhutia, H Morita, HUH Virk, J Basu, J Ehtisham, J Marek, J Novak, J Pei, J Steinfurt, JA Drezner, JA Drezner, KG Harmon, KM Park, L Calò, L Verdile, M Brosnan, M Papadakis, M Papadakis, M Sadron Blaye-Felice, MAE Haukilahti, Mark Abela, MG Wilson, MI Cohen, MJ Ackerman, MJ Brosnan, N Chandra, N Panhuyzen-goedkoop, N Sheikh, P Banankhah, PG Postema, PT Matusik, RE Bent, RE Eckart, S Gati, S Kapa, S Masrur, S Peters, S Sharma, S Viskin, Sanjay Sharma, SEE Page, T Senturk, X Li, YH Lee   +83 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Explainable artificial intelligence identifies and localizes left ventricular scar in hypertrophic cardiomyopathy using 12-Lead electrocardiogram

Scientific Reports
Left ventricular (LV) scar is a major risk factor for sudden death and heart failure in hypertrophic cardiomyopathy (HCM). LV scar evolves over time and needs longitudinal assessment. Currently, LV scar detection relies on late gadolinium enhancement MRI,
Kasra Nezamabadi, Sanjay Sivalokanathan, Jiwon Lee, Talha Tanriverdi, Meiling Chen, Daiyin Lu, Jadyn Abraham, Neda Sardaripour, Pengyuan Li, Parvin Mousavi, M. Roselle Abraham   +10 more
doaj   +1 more source

Non-compaction cardiomyopathy – brief review [PDF]

, 2017
Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela, Constantin, Anca, Donoiu, Ionuț, Istrătoaie, Octavian, Militaru, Constantin, Mirea, Oana, Mănescu, Mirela, Târtea, Georgică Costinel   +7 more
core   +3 more sources

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

AKT-mTOR signaling-mediated rescue of PRKAG2 R302Q mutant-induced familial hypertrophic cardiomyopathy by treatment with β-adrenergic receptor (β-AR) blocker metoprolol [PDF]

, 2022
Jian Zhuo, Hai-Hua Geng, Xiaohui Wu, Mengkang Fan, Hongzhuan Sheng, Jian Yao   +5 more
openalex   +1 more source

Significance of myocardial tenascin-C expression in left ventricular remodelling and long-term outcome in patients with dilated cardiomyopathy [PDF]

, 2015
Aim Dilated cardiomyopathy (DCM) has a variety of causes, and no useful approach to predict left ventricular (LV) remodelling and long-term outcome has yet been established.
Anzai, T, Ikeda, Y, Ishibashi-Ueda, H, Matsuyama, T-A, Nagai, T, Nakatani, T, Nakayama, T, Ogawa, H, Ohta-Ogo, K, Sugano, Y, Takeishi, Y, Yasuda, S, Yokokawa, T   +12 more
core   +1 more source