Results 121 to 130 of about 310,703 (307)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Genetically engineered biomimetic ATP-responsive nanozyme for the treatment of cardiac fibrosis

Journal of Nanobiotechnology
Background Cardiac fibrosis plays a critical role in the progression of various forms of heart disease, significantly increasing the risk of sudden cardiac death.
Xueli Zhao, Yuze Qin, Bowen Li, Yue Wang, Jiao Liu, Bo Wang, Jia Zhao, Jiaqi Yin, Lanlan Zhang, Jing Li, Junzhe Huang, Kun Chen, Liwen Liu, Yuanming Wu   +13 more
doaj   +1 more source

A One Health Approach to Hypertrophic Cardiomyopathy. [PDF]

, 2017
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the ...
Stern, Joshua A, Ueda, Yu
core   +1 more source

Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease? [PDF]

, 2019
Background: Wilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced excretion and consequently excessive accumulation of copper in different organs, such as the heart. Results: In a prospective controlled
Christoph, Marian, Heidrich, Felix M., Heinzel, Frank R., Ibrahim, Karim, Pieske, Burkert, Quick, Silvio, Reuner, Ulrike, Speiser, Uwe, Weidauer, Marie, Zhang, Kun   +9 more
core   +1 more source

Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.

Journal of the American College of Cardiology, 2022
B. Maron, M. Desai, R. Nishimura, P. Spirito, H. Rakowski, J. Towbin, E. Rowin, M. Maron, M. Sherrid   +8 more
semanticscholar   +1 more source

Hypertrophic Cardiomyopathy: An Overview of Genetics and Management

Biomolecules, 2019
Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle disorder with a diverse natural history, characterized by unexplained left ventricular hypertrophy (LVH), with histopathological hallmarks including myocyte enlargement ...
P. Teekakirikul, Wenjuan Zhu, Helen C. Huang, E. Fung   +3 more
semanticscholar   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Jiri Bonaventura, Ethan J. Rowin, Martin S. Maron, Barry J. Maron   +3 more
doaj   +1 more source

Cardiovascular Hospitalizations Burden Following Septal Myectomy for Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Longer‐term morbidity post septal myectomy (SM) in obstructive hypertrophic cardiomyopathy has not been well characterized at a national level.
Ahmed Altibi, Miriam Elman, Hailey Volk, Mohammad Alqabani, Michael Butzner, Howard Song, Ahmad Masri   +6 more
doaj   +1 more source

Inter-observer variability for cardiac ultrasound measurements in cats repeated at different time points in early adult life [PDF]

, 2018
A high degree of accuracy is required when using echocardiography to diagnose hypertrophic cardiomyopathy (HCM) in cats, as variation in measurements of 0.5 mm may affect classification of individuals as ‘abnormal’.
Barberet, Chetboul, Gundler, Hansson, Payne, Simpson, Wagner, Wolf   +7 more
core   +2 more sources