ArticleBMC medical genetics2018
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Case report: an underdiagnosed multifocal ectopic Purkinje-related premature contractions caused by SCN5A mutation.BMC cardiovascular disorders · 2026Article
- Resolution of severe dilated cardiomyopathy with significant arrhythmia burden using hydroquinidine, in addition to guideline-directed medical therapy, in a patient with a pathogenicEuropean heart journal. Case reports · 2026Article
- Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium.Circulation. Genomic and precision medicine · 2025Article
- Maturation of iPSC-derived cardiomyocytes in a heart-on-a-chip device enables modeling of dilated cardiomyopathy caused by R222Q-SCN5A mutation.Biomaterials · 2023Article
- Multifocal ectopic premature Purkinje-related complexes syndrome in children.HeartRhythm case reports · 2023Article
- Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification.Biomedicines · 2023Review
- Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.Frontiers in cardiovascular medicine · 2023Review
- Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy.European heart journal · 2022Article
- Mechanisms, time course and predictability of premature ventricular contractions cardiomyopathy-an update on its development and resolution.Heart failure reviews · 2022Review
- Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments.Heart failure reviews · 2022Review
- Integrated Bioinformatics Algorithms and Experimental Validation to Explore Robust Biomarkers and Landscape of Immune Cell Infiltration in Dilated Cardiomyopathy.Frontiers in cardiovascular medicine · 2022Article
- You cannot ablate the Lernaean Hydra: SCN5A mutation in a patient with multifocal ectopic Purkinje-related premature contractions syndrome treated with Flecainide and an implant of a subcutaneous defibrillator-a case report.European heart journal. Case reports · 2021Article
- A NovelDiagnostics (Basel, Switzerland) · 2020Article
- Risk Stratification for Sudden Cardiac Death in Non-Ischaemic Dilated Cardiomyopathy.Current cardiology reports · 2019Review
- Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.Journal of clinical medicine · 2019Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contractions and atrial fibrillation. Arrhythmia often occurs at a young age and is the first symptom of heart disease. CASE PRESENTATION: We present the case of 55-year old male with a 30-year history of heart failure (HF) in the course of familial DCM and complex ventricular tachyarrhythmias, which constituted 50-80% of the whole rhythm. The patient was qualified for heart transplantation because of the increasing symptoms of HF. We revealed the heterozygotic R222Q mutation in SCN5A by means of whole exome sequencing. After the quinidine treatment, a rapid and significant reduction of ventricular tachyarrhythmias and an improvement in the myocardial function were observed and this effect remained constant in the 2.5-year follow-up. This effect was observed even in the presence of concomitant coronary artery disease.
conclusionsPatients with familial DCM and Purkinje-related ventricular arrhythmias should be offered genetic screening. The quinidine treatment for the SCN5A R222Q mutation can be life saving for patients.
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