Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Hypertrophic cardiomyopathy complicating with ventricular tachycardia induced by MYBPC3 and RYR2 double gene mutations: a case report].

Zhonghua xin xue guan bing za zhi - 24 Oct 2023

Fang Z Y, Wang H, Wang Y B, Sun T, Cao F, Bai Y Y

Abstract excerpt

肥厚型心肌病（HCM）是一种常见的遗传性心肌病，临床表现差异较大，多数无临床症状，部分以心原性猝死为首发表现。该文报道1例家族性HCM合并室性心动过速的老年患者，基因测序发现该患者携带HCM4型的明确致病突变MYBPC3基因c.1504C>T杂合错义变异，以及可能与致心律失常右心室发育不良相关的RYR2基因c.6298C>T杂合错义变异，探讨了其临床特征及鉴别诊断，强调了HCM早期筛查、早期诊断、规范治疗的重要性。.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Hypertrophic
Share to Mutation
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ryanodine Receptor Calcium Release Channel

Share to Tachycardia, Ventricular

Source

Identifiers

PMID: 37859363
DOI: 10.3760/cma.j.cn112148-20230531-00318

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Hypertrophic cardiomyopathy complicating with ventricular tachycardia induced by MYBPC3 and RYR2 double gene mutations: a case report].PMID 37859363Read ↗

[Hypertrophic cardiomyopathy with restrictive phenotype: a case report].Semantic proximity Read ↗

[Research progress on the association of cardiac ion channel gene variants with hypertrophic cardiomyopathy and related arrhythmias].Semantic proximity Read ↗

[Recurrent syncope related to catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2-R2401H mutation].Semantic proximity Read ↗

KCNJ2 p.Val93Ile-related cardiac channelopathy with a hypertrophic cardiomyopathy- like phenotype: a case reportSemantic proximity Read ↗

[Update on the effects of ryanodine receptor 2 phosphorylation on the pathogenesis of catecholaminergic polymorphic ventricular tachycardia].Semantic proximity Read ↗

[A case of restrictive cardiomyopathy associated with new TPM1 gene mutation].Semantic proximity Read ↗

[Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].Semantic proximity Read ↗

[Two cases of potassium-aggravated myotonia induced by SCN4A gene variation].Semantic proximity Read ↗

[Cardiomyopathy: progress in diagnosis and treatments. Topics: II. Secondary cardiomyopathy; 3. Takotsubo cardiomyopathy: clinical features and underlying mechanisms].Semantic proximity Read ↗

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.Semantic proximity Read ↗

[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].Semantic proximity Read ↗

[A Chinese pedigree with hypertrophic cardiomyopathy caused by rare homozygous mutation of TNNI3 gene p.Arg162Gln].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.