Cargando…

Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review

RATIONALE: Dilated cardiomyopathy (DCM) is a cardiovascular disorder characterized by consecutive ventricular dilation and contractile dysfunction, often leading to congestive heart failure. DCM type 1Y (DCM1Y) is caused by a mutation in the TPM1 (tropomyosin 1) gene. To date, about thirty TPM1 gene...

Descripción completa

Detalles Bibliográficos
Autores principales:	Man, Yilong, Yi, Changying, Fan, Meili, Yang, Tianyu, Liu, Peng, Liu, Shiguang, Wang, Guangxin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	3400
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758022/ https://www.ncbi.nlm.nih.gov/pubmed/35029218 http://dx.doi.org/10.1097/MD.0000000000028551

Ejemplares similares

Association of single nucleotide polymorphisms in the 3′UTR region of TPM1 gene with dilated cardiomyopathy: A case-control study
por: Yao, Qiang, et al.
Publicado: (2019)

Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy
por: Yuan, Hai-Xin, et al.
Publicado: (2017)

Traditional Chinese medicine on treating dilated cardiomyopathy: A protocol for systematic review and meta analysis
por: Tan, Yuqing, et al.
Publicado: (2020)

The effect of dilated cardiomyopathy with moyamoya disease in a 31-year-old Chinese man: A case report
por: Dong, Xia Yun, et al.
Publicado: (2022)

Immunoadsorption treatment for dilated cardiomyopathy: A PRISMA-compliant systematic review and meta-analysis
por: Bian, Ru-tao, et al.
Publicado: (2021)

Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy
por: Shah, Syed Fawad Ali, et al.
Publicado: (2019)

Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy
por: Zhang, Xinlin, et al.
Publicado: (2017)

Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases
por: Du, Fengli, et al.
Publicado: (2020)

Evaluation of the pharmacotherapeutic impact on contractility recovery in patients with newly diagnosed, acute onset dilated cardiomyopathy
por: Orszulak, Michal, et al.
Publicado: (2023)

A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report
por: Gao, Guangyuan, et al.
Publicado: (2020)

The efficacy and safety of traditional Chinese medicine treating diabetic cardiomyopathy: A protocol for systematic review and meta-analysis
por: Han, Shuo, et al.
Publicado: (2022)

Endomyocardial fibrosis and apical calcification: A case report with unusual presentations of apical hypertrophic cardiomyopathy
por: Gao, Man, et al.
Publicado: (2023)

Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations
por: Guo, Xiying, et al.
Publicado: (2017)

Fabry disease with early-onset ventricular dilation: A case report
por: Tang, Jia, et al.
Publicado: (2020)

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
por: Zhang, Mingqiu, et al.
Publicado: (2014)

Age, Arterial Stiffness, and Components of Blood Pressure in Chinese Adults
por: Zheng, Meili, et al.
Publicado: (2014)

Roles of the crucial mitochondrial DNA in hypertrophic cardiomyopathy prognosis and diagnosis: A review
por: Liao, Xuewen, et al.
Publicado: (2023)

Role of Titin Missense Variants in Dilated Cardiomyopathy
por: Begay, Rene L., et al.
Publicado: (2015)

Depressive symptoms in Chinese family caregivers of patients with heart failure: A cross-sectional study
por: Hu, Xiaolin, et al.
Publicado: (2017)

Clinical and echocardiographic determinants in bicuspid aortic dilatation: Results from a longitudinal observational study
por: Peeters, Frederique E.C.M., et al.
Publicado: (2016)

The essential role of glutamine metabolism in diabetic cardiomyopathy: A review
por: Zhang, Yiying
Publicado: (2023)

Cardiovascular sequelae of hyperthyroidism: A rare case report of thyrotoxic cardiomyopathy
por: Elendu,, Chukwuka
Publicado: (2023)

Clinical significance of overweight in patients with hypertrophic cardiomyopathy: A retrospective cohort study
por: Chen, Ziwei, et al.
Publicado: (2021)

Ascending aortic dilation in adult patients with congenital ventricular septal defect: An observational study
por: Li, Hai-Yang, et al.
Publicado: (2018)

Ulcer-like projections into the dilated false lumen after stent-graft placement for aortic dissection: A case report
por: He, Xi, et al.
Publicado: (2022)

Daily 10 mg rivaroxaban as a therapy for ventricular thrombus related to left ventricular non-compaction cardiomyopathy: A case report
por: Sun, Huan, et al.
Publicado: (2018)

Transient Reverse Takotsubo Cardiomyopathy Following a Spider Bite in Greece: A Case Report
por: Alexakis, Lykourgos-Christos, et al.
Publicado: (2015)

Prognostic nutritional index as a novel marker for prediction of prognosis in patients with peripartum cardiomyopathy
por: Tak, Bahar Tekin, et al.
Publicado: (2020)

Late onset radiation-induced constrictive pericarditis and cardiomyopathy after radiotherapy: A case report
por: Zhuang, Xiao-feng, et al.
Publicado: (2017)

New Features of Electrocardiogram in a Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy: A Care-Compliant Article
por: Pei, Haifeng, et al.
Publicado: (2016)

A New Insight Into Sudden Cardiac Death in Young People: A Systematic Review of Cases of Takotsubo Cardiomyopathy
por: Wang, Yueyue, et al.
Publicado: (2015)

Genetic polymorphism of angiotensin-converting enzyme and hypertrophic cardiomyopathy risk: A systematic review and meta-analysis
por: Yuan, Ye, et al.
Publicado: (2017)

Takotsubo cardiomyopathy and giant r wave syndrome mimicking acute myocardial infarction: A case report
por: Wang, Yong, et al.
Publicado: (2019)

Long sleep duration and risk of increased arterial stiffness in a Chinese population
por: Liu, Xiaoxue, et al.
Publicado: (2020)

Individualized prevention against hypertension based on Traditional Chinese Medicine Constitution Theory: A large community-based retrospective, STROBE-compliant study among Chinese population
por: Li, Ying, et al.
Publicado: (2017)

The efficacy and safety of electroacupuncture against urinary incontinence after stroke: A protocol for systematic review and meta analysis
por: Wang, Peng, et al.
Publicado: (2020)

Percutaneous left atrial appendage closure in patients with hypertrophic cardiomyopathy and persistent atrial fibrillation: 3-year-followed case series
por: Liu, Ying, et al.
Publicado: (2023)

Two-dimensional myocardial deformation in coronary vasospasm-related Takotsubo cardiomyopathy: A case report of a serial echocardiographic study
por: Hung, Ming-Jui, et al.
Publicado: (2017)

T2-weighted cardiac magnetic resonance image and myocardial biomarker in hypertrophic cardiomyopathy
por: Chen, Shi, et al.
Publicado: (2020)

Use of sacubitril/valsartan in Marfan syndrome–related cardiomyopathy: The first case report
por: Spoto, Silvia, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_288ljsgibqb1bng9g1c4otcq4c