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A Heterozygous Phospholamban Variant(p.R14del)Leads to Left Ventricular Involvement and Heart Failure Phenotypes in Arrhythmogenic Right Ventricular Cardiomyopathy

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Phenomics 2024年第1期4卷 13-23页

作者： Han Mo xiumeng hua Mengni Bao Zhe Sun Xiao Chen Mengda Xu Jiangping Song Shenzhen Key Laboratory of Cardiovascular Disease Fuwai Hospital Chinese Academy of Medical SciencesShenzhen 518057China State Key Laboratory of Cardiovascular Disease Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical College167A Beilishi RoadXi Cheng DistrictBeijing 100037China Beijing Key Laboratory of Preclinical Research and Evaluation for Cardiovascular Implant Materials Animal Experimental CentreFuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

This study aimed to determine the prevalence and clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy(ARVC)caused by pathogenic mutations in the Phospholamban(PLN)*** study included 170 patients who had a confrmed diagnosis of ARVC and underwent PLN genetic screening using next-generation *** fndings of this study provide valuable insights into the association between PLN mutations and ARVC,which can aid in the development of more efective diagnostic and treatment strategies for ARVC *** of the patients evaluated,six had a rare pathogenic mutation in PLN with the same p.R14del *** screening revealed that heterozygous carriers of p.R14del exhibited a defnite ARVC *** clinical studies,individuals with the p.R14del mutation experienced a similar rate of malignant arrhythmia events as those with classic desmosome *** adjusting for covariates,individuals with PLN mutations had a two point one seven times greater likelihood of experiencing transplant-related risks compared to those who did not possess PLN mutations(95%CI 1.08–6.82,p=0.035).The accumulation of left ventricular fat and fbers is a pathological marker for ARVC patients with p.R14del *** a cohort of 170 Chinese ARVC patients,three point fve percent of probands had the PLN pathogenic variant(p.R14del)and all were *** data shows that PLN-related ARVC patients are at high risk for ventricular arrhythmias and heart failure,which requires clinical diferentiation from classic ***,carrying the p.R14del mutation can be an independent prognostic risk factor in ARVC patients.

关键词： Arrhythmogenic right ventricular cardiomyopathy Phospholamban Left ventricular involvement Heart failure Risk stratifcation

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Phenotypes of Cardiovascular Diseases:Current Status and Future Perspectives

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Phenomics 2021年第5期1卷 229-241页

作者： Hang Zhang xiumeng hua Jiangping Song The Cardiomyopathy Research Group State Key Laboratory of Cardiovascular DiseaseFuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical College167A Beilishi RoadXi Cheng DistrictBeijing 100037China

Cardiovascular diseases(CVDs)are a large group of diseases and have become the leading cause of morbidity and mortality *** considerable progresses have been made in the diagnosis,treatment and prognosis of CVD,commu-nication barriers between clinicians and researchers still exist because the phenotypes of CVD are complex and diverse in clinical practice and lack of ***,it is particularly important to establish a standardized and unified terminology to describe *** recent years,there have been several studies,such as the Human Phenotype Ontology,attempting to provide a standardized description of the disease *** the present article,we outline recent advances in the classification of the major types of CVD to retrospectively review the current progresses of phenotypic studies in the cardiovascular field and provide a reference for future cardiovascular research.

关键词： Cardiovascular disease Phenotype Classification Therapy

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