Results 191 to 200 of about 30,861 (299)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Effectiveness and Safety of Intramyocardial Needle Ablation for Refractory Ventricular Tachycardia and Premature Ventricular Complexes: A Systematic Review and Meta-Analysis. [PDF]

J Cardiovasc Electrophysiol
Gupta K, Qureshi MA, Rawlley B, Jain V, Verma A, Siontis KC, Deskhmukh A, Khan A, Raad M.   +8 more
europepmc   +1 more source

Long QT Syndrome Type 5 With Coexisting KCNE1 and RYR2 Variants: A Diagnostic Ambiguity

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Long QT syndrome (LQTS) predisposes to syncope and sudden cardiac death. Type 5 LQTS, linked to KCNE1 variants, is rare. A teenage female presented with recurrent syncope. ECG showed QTc 485 ms. Genetic testing identified KCNE1 and RYR2 variants. Beta‐blockers and ICD prevented events.
Mohammad Hossein Nikoo, Hossein Fatemian, Amir Hossein Hassani, Mehrdad Rabiee Rad, Sara Mostafavi   +4 more
wiley   +1 more source

Cardiovascular β‐Adrenergic Receptor Distribution and Function: Influence of Species, Sex, Age, and Tissue

Comprehensive Physiology, Volume 16, Issue 3, June 2026.
Estrogen modulates β‐AR signaling in a context‐dependent manner influenced by species, sex, age, tissue, and vascular health, highlighting challenges in translating findings from experimental models to human cardiovascular physiology. ABSTRACT Cardiovascular diseases remain the leading global cause of morbidity and mortality, with notable sex‐specific ...
Basant Elsaid, Irakli Kopaliani, Birgit Zatschler, Ansam Seif, Stephan Speier, Andreas Deussen   +5 more
wiley   +1 more source

Association of Systemic Sclerosis With Premature Ventricular Complexes and Cardiac Arrest: A National Inpatient Sample Analysis for 2021. [PDF]

Cureus
Nwogwugwu E, Ogunniyi KE, Pius R, Tabowei G, Patel N, Odugbemi OP, Ogedegbe O, Alugba G, Ugwendum D, Ong K.   +9 more
europepmc   +1 more source

Resistant to Ablation, Responsive to Hydroquinidine: Precision Medicine Guides Recovery in MEPPC Syndrome Cardiomyopathy

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
We report a case of MEPPC syndrome presenting with severe dilated cardiomyopathy due to a pathogenic SCN5A p.Arg814Trp variant. Genetic diagnosis enabled precision pharmacotherapy with hydroquinidine, which suppressed multifocal Purkinje‐origin ectopy resistant to catheter ablation and led to marked improvement in left ventricular function.
Jonathan L. Ciofani, Hariharan Raju, Malcolm Anastasius   +2 more
wiley   +1 more source

Coronary Artery Identification With Intracardiac Echocardiography and Integration on 3D Mapping During Radiofrequency Ablation of Premature Ventricular Complexes. [PDF]

JACC Case Rep
Dell'Aquila A, La Greca C, Prezioso A, Pecora D.   +3 more
europepmc   +1 more source

Uncertainty should be the rule, not the exception: Integrating fibre orientation variability in cardiac electrophysiology modelling

The Journal of Physiology, EarlyView.
Ovais Ahmed Jaffery, Caroline Helen Roney   +1 more
wiley   +1 more source

Efficacy of Fixed Low‐Power Long‐Duration Radiofrequency Ablation of Ventricular Arrhythmias Originating From the Left Ventricular Summit

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Efficacy and safety of a fixed low‐power, long‐duration radiofrequency catheter ablation of ventricular arrhythmias originating from the left ventricular summit. ABSTRACT Background Radiofrequency catheter ablation (RFCA) of ventricular arrhythmias originating from the left ventricular summit (LVS‐VAs) remains challenging.
Takuro Masuda, Koji Nakagawa, Satoshi Kawada, Tomofumi Mizuno, Akira Ueoka, Saori Asada, Masakazu Miyamoto, Nobuhiro Nishii, Kazufumi Nakamura, Hiroshi Morita, Shinsuke Yuasa   +10 more
wiley   +1 more source