Results 41 to 50 of about 71,524 (287)

Self- and Goal-Directed Valsalva Maneuver vs Exercise in Eliciting Left Ventricular Outflow Tract Obstruction

JACC: Advances
Background: In symptomatic patients with hypertrophic cardiomyopathy (HCM), eliciting left ventricular outflow tract obstruction (LVOTO) is critical. A self-directed Valsalva (SDV) and exercise (EX) are frequent tools used to unmask obstruction in HCM ...
Aakash Bavishi, MD, MSCI, John Fritzlen, MD, Kutaiba Nazif, DO, Marybeth Soutar, MS, Margaret Kurnides, RDCS, Heather Speer, RDCS, Glenda Oyarce, RCS, Karen Richards, RN, Cara Flahive, RN, Matthew W. Martinez, MD   +9 more
doaj   +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

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Real‐World Observations in Patients With Obstructive Hypertrophic Cardiomyopathy Treated With Mavacamten: Evidence of Favorable Disease Modification

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Mavacamten is commercially approved for use in symptomatic patients with obstructive hypertrophic cardiomyopathy. This study evaluated its real‐world impact on symptoms, echocardiographic changes, and the need for septal reduction therapy in ...
Milind Y. Desai, Andrew Gaballa, Yuichiro Okushi, Mohammed Abusafia, Shada Jadam, Katy Rutkowski, Susan Ospina, Sanaa Sultana, Maran Thamilarasan, Craig Asher, Zoran B. Popovic, Bo Xu   +11 more
doaj   +1 more source

Hypertrophic cardiomyopathy in athletes [PDF]

European Cardiology Review, 2017
The diagnosis of hypertrophic cardiomyopathy can be challenging in the athlete. A morphologically mild phenotype of the condition may mimic physiological left ventricular hypertrophy and requires careful evaluation of the athlete with an array of clinical tools.
Malhotra, Aneil, Sharma, Sanjay
openaire   +2 more sources

Mid-Ventricular Hypertrophic Obstructive Cardiomyopathy [PDF]

, 2014
Mid-ventricular hypertrophic obstructive cardiomyopathy is a rare variant form (1%) of hypertrophic obstructive cardiomyopathy. In this case, we report a patient referred for elective cardiac catheterization due to angina and dyspnea on moderate exertion,
Pivatto Junior, Fernando, Pivatto, Fernando, Krepsky, Ana Maria Rocha, Zago, Alexandre do Canto, Krepsky, Ana Maria, Mossmann, Márcio   +5 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Chrysin alleviates pressure overload–induced myocardial remodeling through regulating the PI3K/AKT/NRF2 pathway–mediated oxidative stress response

Animal Models and Experimental Medicine, EarlyView.
In this study, we primarily simulated pathological myocardial remodeling induced by transverse aortic constriction surgery and found significant cardiac hypertrophy and fibrosis, characterized by deteriorated cardiac function. Oxidative stress response is considered as a pivotal pathological process, which contributes to inflammation and apoptosis of ...
Yijia Wang, Xing Feng, Shuhui Zhao, Yuchong Fu, Ao Zhang, Xiaofeng Shen, Bowen Yu, Yihao Wang, Jiahui Lin, Bing Zhang, Weiping Ji, Lianpin Wu, Xiaoling Guo   +12 more
wiley   +1 more source

Hypertrophic Cardiomyopathy: Challenging the Status Quo?

, 2020
Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular genetic disorder. While our mechanistic understanding has been informed by elegant gene discovery studies that led to the term “disease of the sarcomere”, more recent investigations have
McCormack, L, Atherton, JJ, Younger, J, Lo, A, McGaughran, J, Prasad, S   +5 more
core   +1 more source