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Relationship of Structural Abnormalities of Papillary Muscles to the Site of Origin of Ventricular Arrhythmias.
JACC Clin Electrophysiol
November 2024
Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, Michigan, USA. Electronic address:
Background: Arrhythmias originating from papillary muscles (PAPs) can be challenging when targeted with catheter ablation. The prevalence and impact of structural abnormalities on PAPs in patients with focal PAP arrhythmias is unknown.
Objectives: The purpose of this study was to analyze, in a consecutive patient series with focal PAP arrhythmias, the impact of structural abnormalities detected by multimodality imaging.
Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.
Hum Genome Var
December 2024
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan.
DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic cardiomyopathy. We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure.
View Article and Find Full Text PDFCoinheritance of Hypertrophic and Arrhythmogenic Cardiomyopathy Variants in a Patient With Hypertrophic Cardiomyopathy.
JACC Case Rep
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SingHealth Duke-NUS Genomic Medicine Centre, Duke NUS Medical School, Singapore.
Hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are phenotypically distinct inherited cardiac diseases. This case report presents a woman aged 51 years with coinheritance of pathogenic/likely pathogenic variants of the β-myosin heavy chain ( p.Glu924Lys) and plakophilin 2 ( p.
View Article and Find Full Text PDFMeis transcription factors regulate cardiac conduction system development and adult function.
Cardiovasc Res
December 2024
Cardiovascular Regeneration Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, 28029, Spain.
Aims: The Cardiac Conduction System (CCS) is progressively specified during development by interactions among a discrete number of Transcriptions Factors that ensure its proper patterning and the emergence of its functional properties. Meis genes encode homeodomain transcription factors (TFs) with multiple roles in mammalian development. In humans, Meis genes associate with congenital cardiac malformations and alterations of cardiac electrical activity, however the basis for these alterations has not been established.
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