Results 61 to 70 of about 126,048 (295)

Normal Coronary Artery Patient Presenting with Left Ventricular Aneurysm

Case Reports in Medicine, 2011
Left ventricular aneurysm (LVA) is one of the most important complications of myocardial infarction LVA is strictly defined as a distinct area of abnormal left ventricular diastolic contour with systolic dyskinesia or paradoxical bulging.
Hakan Altay, Cihan Altin, Ali Çoner, Haldun Muderrisoglu   +3 more
doaj   +1 more source

Techniques for Identification of Left Ventricular Asynchrony for Cardiac Resynchronization Therapy in Heart Failure [PDF]

, 2005
The most recent treatment option of medically refractory heart failure includes cardiac resynchronization therapy (CRT) by biventricular pacing in selected patients in NYHA functional class III or IV heart failure. The widely used marker to indicate left
Peter, Schuster, Svein, Faerestrand
core  

Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers [PDF]

, 2015
Aims: Nebulette is a 109 kDa modular protein localized in the sarcomeric Z-line of the heart. In vitro studies have suggested a role of nebulette in stabilizing the thin filament, and missense mutations in the nebulette gene were recently shown to be ...
Bang, Marie-Louise, Carullo, Pierluigi, Chen, Ju, Dalton, Nancy D., Gu, Yusu, Li, Xiaodong, Liang, Xingqun, Mastrototaro, Giuseppina, Peterson, Kirk L., Piroddi, Nicoletta, Poggesi, Corrado, Sheikh, Farah, Tesi, Chiara   +12 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Echocardiographic profile of patients with cardiomyopathy

Journal of Lumbini Medical College, 2018
Introduction: Cardiomyopathies represent a heterogeneous group of diseases that often lead to progressive heart failure with significant morbidity and mortality. Exact epidemiological data on cardiomyopathy in Nepal are lacking.
Jeevan Khanal, Tilchan Pandey, Krishna Godar   +2 more
doaj   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Wilms Tumor with dilated hypertensive cardiomyopathy, acute myocarditis, pulmonary edema, and heart failure

Urology Case Reports, 2020
An 11-month-old boy with unilateral Wilms tumor had an unusual presentation, with dilated hypertensive cardiomyopathy, acute myocarditis, pulmonary edema, and congestive heart failure secondary to the Wilms tumor and requiring intensive care.
Jae Min Chung, Sang Don Lee
doaj   +1 more source

The multi-modality cardiac imaging approach to the Athlete's heart: an expert consensus of the European Association of Cardiovascular Imaging [PDF]

, 2015
The term 'athlete's heart' refers to a clinical picture characterized by a slow heart rate and enlargement of the heart. A multi-modality imaging approach to the athlete's heart aims to differentiate physiological changes due to intensive training in the
Abergel, Abhayaratna, Andersson, Angell, Bartram, Basavarajaiah, Blair, Bossone, Bruder, Caso, Chandra, Corrado, Corrado, D'Andrea, D'Andrea, D'Andrea, D'Andrea, D'Andrea, D'Andrea, D'Andrea, Di Paolo, Douglas, Estorch, Fagard, Fagard, Florescu, Gabrielli, Galderisi, Galderisi, Garber, George, Gilbert, Goldhammer, Grothues, Hauser, Hildick-Smith, Kalliokoski, Kim, Knutsen, La Gerche, La Gerche, Ljungqvist, Mahrholdt, Makan, Maron, Maron, Maron, Maron, Maron, Matsumura, Matsuo, Montgomery, Moon, Moon, Morganroth, Mousavi, Nagueh, Nottin, O'Hanlon, Pattynama, Payne, Pelliccia, Pelliccia, Petersen, Pluim, Prakken, Rehr, Richand, Rickers, Rudski, Saghir, Scharf, Scharhag, Schwartz, Semelka, Sen-Chowdhry, Sen-Chowdhry, Severino, Sharma, Shave, Shave, Spirito, Steinvil, Teramoto, Terry, Thomas, Urhausen, Vinereanu, Whyte, Wolfe, Zeppilli, Zoncu   +91 more
core   +4 more sources

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source