Results 71 to 80 of about 7,387 (194)

Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case

Frontiers in Cardiovascular Medicine, 2022
BackgroundSudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD.
Jie-Yuan Jin, Jiao Xiao, Yi Dong, Yue Sheng, Ya-Dong Guo, Ya-Dong Guo, Ya-Dong Guo, Rong Xiang, Rong Xiang, Rong Xiang   +9 more
doaj   +1 more source

Complementary Yield of Gene Panel Testing and ACMG SF v3.3 Screening for Cardiovascular Disease in a Korean Cohort

Clinical Genetics, EarlyView.
Phenotype‐directed gene panel testing and opportunistic ACMG SF v3.3 screening identified distinct, complementary cardiovascular genetic risks in a Korean cohort. Panel testing achieved a 20.0% yield enriched for arrhythmia/cardiomyopathy genes, whereas opportunistic exome screening revealed a 5.6% yield dominated by TTN‐related cardiomyopathy and ...
Jihye You, Lae‐Young Jung, Sun Hwa Lee, Joonhong Park   +3 more
wiley   +1 more source

Whole‐Exome Sequencing Identifies a Rare CSRP3 Variant Associated With Familial Brugada Syndrome in a Lebanese Family

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Introduction Brugada syndrome (BrS) is an inherited arrhythmia associated with an increased risk of sudden cardiac death. Although traditionally regarded as a primary cardiac channelopathy, pathogenic variants in SCN5A account for only 20%–30% of clinically diagnosed cases, leaving most patients genetically unresolved.
Zainab Bashir, Ayat Kadhi, Jad Ballout, Bushra Samara, Maurice Khoury, Georges Nemer, Marwan Refaat   +6 more
wiley   +1 more source

Acromegaly and MYBPC3 Mutation: A Synergistic Impact on Cardiomyopathy Development

Acta Endocrinologica (Bucharest)
Acromegaly is commonly associated with cardiomyopathy due to chronic overproduction of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), leading to biventricular hypertrophy, diastolic dysfunction, and in advanced cases, systolic dysfunction and heart failure.
Tekin, I., Büber, I., Topsakal, S.
openaire   +3 more sources

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation [PDF]

, 2019
This manuscript has not been published before and is not currently being considered for publication elsewhere. Increased septal convexity of left ventricle has been described in subjects with hypertrophic cardiomyopathy (HCM)-causing mutations without ...
Kuusisto, Johanna, Lauerma, Kirsi, Tarkiainen, Mika, Heliö, Tiina, Sipola, Petri, Jalanko, Mikko, Jääskeläinen, Pertti, Laine, Mika, Kivelä, Kati   +8 more
core   +1 more source

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

PLoS ONE, 2017
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding ...
Shiv Kumar Viswanathan, Heather K Sanders, James W McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A Jamil Tajik, Sakthivel Sadayappan   +6 more
doaj   +1 more source

Alterations in Multi‐Scale Cardiac Architecture in Association With Phosphorylation of Myosin Binding Protein‐C

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundThe geometric organization of myocytes in the ventricular wall comprises the structural underpinnings of cardiac mechanical function. Cardiac myosin binding protein‐C (MYBPC3) is a sarcomeric protein, for which phosphorylation modulates ...
Erik N. Taylor, Matthew P. Hoffman, David Y. Barefield, George E. Aninwene, Aurash D. Abrishamchi, Thomas L. Lynch, Suresh Govindan, Hanna Osinska, Jeffrey Robbins, Sakthivel Sadayappan, Richard J. Gilbert   +10 more
doaj   +1 more source

GATA2 Deficiency Presenting With a WHIM‐Like Phenotype and Subsequent Development of Monosomy 7‐Associated Myelodysplastic Syndrome in an Adolescent Female: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT We report an 18‐year‐old female with GATA2 deficiency presenting with a WHIM‐like phenotype, including pancytopenia, monocytopenia, CD19+ B‐cell depletion, sensorineural hearing loss, and cutaneous warts. Subsequent cytogenetic evaluation revealed monosomy 7 and 7q22 deletion, with bone marrow progression to MDS.
Aziz Eghbali, Meshkat Poortavakol, Hamideh Sadat Mirmohammadi   +2 more
wiley   +1 more source

The clinical characteristics of families with hypertrophic cardiomyopathy associated with mutations of cardiac myosin binding protein C [PDF]

, 2010
Introduction: Mutations in cardiac myosin binding protein-C (MYBPC3), the most common genetic cause of hypertrophic cardiomyopathy (HCM), have been reported to cause a comparatively benign and late-onset form of the disease with incomplete penetrance ...
Page, S.P.
core