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Argelia Medeiros Domingo

Argelia Medeiros Domingo
Swiss DNAlysis

M.D, PhD

About

153
Publications
11,546
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Introduction
Argelia Medeiros Domingo currently works at Swiss DNAlysis in Dübendorf, Switzerland. She does research in inherited cardiac disorders.
Additional affiliations
September 2018 - present
Swiss DNAlysis
Position
  • Managing Director
August 2013 - August 2018
Inselspital, Universitätsspital Bern
Position
  • Medical Doctor
September 2011 - September 2011
University Hospital Zurich
Position
  • Fellow

Publications

Publications (153)
Article
Full-text available
Sodium voltage-gated channel α subunit 5 (SCN5A)-mutations may cause an array of arrhythmogenic syndromes most frequently as an autosomal dominant trait, with incomplete penetrance, variable expressivity and male predominance. In the present study, we retrospectively describe a group of Mexican patients with SCN5A-disease causing variants in whom t...
Article
Introduction Filamin C (FLNC) gene variants associated with atrial cardiomyopathies have not been reported so far. Aim of this study was to assess genetics of two siblings presenting with recurrent right atrial arrhythmias, severe right atrial dilatation and skeletal myopathy. Methods A family with subjects affected by recurrent atrial arrhythmias...
Article
Full-text available
Purpose The genetic architecture of Plakophilin 2 ( PKP2 ) cardiomyopathy can inform our understanding of its variant pathogenicity and protein function. Methods We assess the gene-wide and regional association of truncating and missense variants in PKP2 with arrhythmogenic cardiomyopathy (ACM), and arrhythmogenic right ventricular cardiomyopathy...
Article
Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited condition, with approximately 60% of patients carrying a possibly disease-causing genetic variant. Known desmosomal genes account for about 50% of those variants. We herein report a family with ARVC in which a pathogenic desmosomal variant was missed because of the in...
Article
Background: The cardiomyopathies, classically categorized as hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular (ARVC), each have a signature genetic theme. HCM and ARVC are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning more than 10 gene ontologies have...
Article
Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended and a pathogenic variant in an ARVC-associated gene is a major criterion for diagnosis according to the 2010 Task Force Criteria (TFC). As incorr...
Article
Sex-related differences in prevalence, clinical presentation, and outcome of cardiac channelopathies are increasingly recognized, despite their autosomal transmission and hence equal genetic predisposition among sexes. In congenital long-QT syndrome, adult women carry a greater risk for Torsades de pointes and sudden cardiac death than do men. In c...
Preprint
Full-text available
Background: The cardiomyopathies are classically categorized as hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular (ARVC), and each have a signature genetic theme. HCM and ARVC are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning more than 10 gene ontologi...
Article
Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy, which is associated with life-threatening ventricular arrhythmias. Approximately 60% of patients carry a putative disease-causing genetic variant, but interpretation of genetic test results can be challenging. The aims of this study were to systemati...
Article
Full-text available
Arrhythmogenic cardiomyopathy (ACM) is primarily a familial disease with autosomal dominant inheritance. Incomplete penetrance and variable expression are common, resulting in diverse clinical manifestations. Although recent studies on genotype–phenotype relationships have improved our understanding of the molecular mechanisms leading to the expres...
Article
Introduction Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited condition, which is associated with potentially life-threatening ventricular arrhythmias in the young. Approximately 60% of patients carry a possibly disease-causing genetic variant. Purpose The aim of this study was to investigate the impact of the 2015 American C...
Article
Full-text available
The pandemic caused by the SARS-COV-2 or COVID-19 virus has been a global challenge given its high rate of transmission and lack of effective therapy or vaccine. This scenario has led to the use of various drugs that have demonstrated a potential effect against the virus in vitro. However, time has not been enough to properly evaluate their clinica...
Article
Aim: The impact of clinical characteristics for predicting patterns of ventricular involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) are not well defined. The aims of this study were to characterize different patterns of ventricular involvement in patients with ARVC and to stratify them based on clinical characteristics exercis...
Article
Objectives: Our goal was to analyse the implantation and outcome of thoracoscopic epicardial leads after a failed endovascular approach or follow-up (FU) complications after endovascular implantation. Methods: We reviewed the records of patients with failed endovascular left ventricular (LV) lead placement or complications during FU, who were su...
Article
Full-text available
Sudden arrhythmic death syndrome (SADS) in young individuals is a devastating and tragic event often caused by an undiagnosed inherited cardiac disease. Although post-mortem genetic testing represents a promising tool to elucidate potential disease-causing mechanisms in such autopsy-negative death cases, a variant interpretation is still challengin...
Article
Full-text available
Aims: To define the clinical characteristics and long-term clinical outcomes of a large cohort of patients with idiopathic ventricular fibrillation (IVF) and normal 12-lead electrocardiograms (ECGs). Methods and results: Patients with ventricular fibrillation as the presenting rhythm, normal baseline, and follow-up ECGs with no signs of cardiac...
Article
Progressive cardiac conduction disease (PCCD) is often a primarily genetic disorder, with clinical and genetic overlaps with other inherited cardiac and metabolic diseases. A number of genes have been implicated in PCCD pathogenesis with or without structural heart disease or systemic manifestations. Precise genetic diagnosis contributes to risk st...
Article
Full-text available
Purpose To compare lead failure manifestation and lead performance of the Biotronik Linox/Sorin Vigila defibrillator lead (Linox group) with the St. Jude Medical Riata/Riata ST (Riata group) and Medtronic Sprint Fidelis defibrillator leads (Fidelis group). Methods We assessed the performance of all aforementioned leads implanted at our center and...
Article
Genetic testing in survivors of sudden cardiac arrest (SCA) with a suspicious cardiac phenotype is considered clinically useful, whereas its value in the absence of phenotype is disputed. We aimed to evaluate the clinical utility of genetic testing in survivors of SCA with or without cardiac phenotype. Sixty unrelated SCA survivors (median age: 34...
Article
Full-text available
Cardiomyopathies are primarily genetic disorders of the myocardium associated with higher risk of life-threatening cardiac arrhythmias, heart failure, and sudden cardiac death. The evolving knowledge in genomic medicine during the last decade has reshaped our understanding of cardiomyopathies as diseases of multifactorial nature and complex pathoph...
Article
Full-text available
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by right ventricular myocardial replacement and life-threatening ventricular arrhythmias. Desmosomal gene mutations are sometimes identified, but clinical and genetic diagnosis remains challenging. Desmosomal skin disorders can be caused by desmosomal gene mutations or a...
Article
Full-text available
Objective: Unexplained cardiac arrest (UCA) is often the first manifestation of an inherited arrhythmogenic disease. Genetic testing in UCA is challenging due to the complexities of variant interpretation in the absence of supporting cardiac phenotype. We aimed to investigate if a KCNQ1 variant [p.(Pro64_Pro70del)], previously reported as pathogen...
Article
There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guideline...
Article
Full-text available
Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic cardiac diseases, which remained without any symptoms during lifetime. Approximately 30% of these sudde...
Article
An 18-year-old woman with a history of anorexia nervosa and multiple episodes of dizziness and syncope of unknown cause was transferred to the emergency department by ambulance 1 hour after starting to feel palpitations, dizziness, tightness in the chest, and presyncope at school. At the time of presentation, she was hemodynamically stable, but the...
Poster
Background: The modified EHRA (mEHRA) score identifies patients with symptomatic and disturbing atrial fibrillation (AF) in more detail compared to the original EHRA score. Five classes (1, 2a/b, 3, 4) are described. Patients in class 1 and 2a are asymptomatic or not troubled by AF, respectively (low-mEHRA). The higher mEHRAclasses (2b to 4; high-mEHR...
Article
Full-text available
Transient receptor potential melastatin member 4 (TRPM4), a non-selective cation channel, mediates cell membrane depolarization in immune response, insulin secretion, neurological disorders, and cancer. Pathological variants in TRPM4 gene have been linked to several cardiac phenotypes such as complete heart block (CHB), ventricular tachycardia, and...
Article
Inherited primary arrhythmia syndromes are genetically determined disorders of cardiac ion channels or ion channel macromolecular complexes usually associated with a higher risk of sudden cardiac death. These conditions have a very broad spectrum of clinical manifestations, ranging from an asymptomatic course to syncope, atrial and ventricular arrh...
Article
We report a case of torsades de pointes arrhythmia as the first manifestation of congenital Long QT syndrome in a 77-year-old man with family history of sudden unexplained death. This case illustrates the importance of vigilant clinical assessment and genetic counseling in families with sudden death in order to identify properly asymptomatic relati...
Article
Aims Short QT syndrome (SQTS) is a rare cardiac channelopathy characterized by a shortened corrected QT (QTc)-interval that can lead to ventricular arrhythmias and sudden cardiac death. The aim of this study was to investigate the clinical phenotypes and long-term outcomes of three families harbouring genetic mutations associated with the SQTS. Me...
Poster
Introduction: Premature atrial contraction (PAC) count and presence of nonsustained atrial tachycardias (NSAT) are emerging risk factors for ischemic stroke. Purpose: The aim of this study is to assess the variability of PAC count and NSAT. Methods: The STARFIB study is a Hospital-based, prospective cohort study which aims to describe atrial cardio...
Poster
Background: Cardiac arrest is often the first manifestation of a silent familial/genetic heart disease. The yield of the genetic test in sudden unexplained death syndrome (SUDS) is known to be near 30%. The yield of genetic test in unexplained cardiac arrest survivors has been reported higher, 50 to 60% in small series. Purpose: We aimed to evaluat...
Poster
Introduction Left atrial access, as required for pulmonary vein isolation (PVI) in atrial fibrillation (AF) patients, is achieved through transseptal puncture (TSP) or via access through a patent foramen ovale (PFO). The aim of this study was to investigate whether the access has an impact on the outcome of AF ablation. Methods Data from 1083 patie...
Poster
Introduction: Patients with frequent premature ventricular contractions (PVC) and nonsustained ventricular tachycardias (NSVT) may have a worse prognosis and be at risk of cardiomyopathy. Purpose: The aim of this study is to assess the variability of PVC count and NSVT. Methods: The STARFIB study is a Hospital-based, prospective cohort study which...
Article
Full-text available
Background: In Switzerland, ECG screening was first recommended for national squad athletes in 1998. Since 2001 it has become mandatory in selected high-risk professional sports. Its impact on the rates of sports-related sudden cardiac death (SCD) is unknown. Objective: We aimed to study the incidence, causes and time trends of sports-related SC...
Data
Characteristics of sudden cardiac death victims. (XLSX)
Data
Supporting information to the dataset. (DOCX)
Article
Aims: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by fibrofatty infiltration of the myocardium and ventricular arrhythmias that may lead to sudden cardiac death. It has been observed that male patients develop the disease earlier and present with more severe phenotypes as compared to females. Thus, we hypoth...
Article
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected duri...
Article
Full-text available
Sudden death of healthy young adults in the absence of any medical reason is generally categorised as autopsy-negative sudden unexplained death (SUD). Approximately 30 % of all SUD cases can be explained by lethal sequence variants in cardiac genes causing disturbed ion channel functions (channelopathies) or minimal structural heart abnormalities (...
Article
Full-text available
Sudden death of healthy young adults in the absence of any medical reason is generally categorised as autopsy-negative sudden unexplained death (SUD). Approximately 30 % of all SUD cases can be explained by lethal sequence variants in cardiac genes causing disturbed ion channel functions (channelopathies) or minimal structural heart abnormalities (...