Mireia Alcalde

Dr. Mireia Alcalde

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Academic Career Length

15Years (2012-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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3 September 2012 in Journal of Clinical Pathology
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Oscar CampuzanoOscar Campuzano
Oscar Campuzano
MAMireia Alcalde
Mireia Alcalde
AIAnna Iglesias
Anna Iglesias
CBCatherine Barahona-Dussault
Catherine Barahona-Dussault
GSGeorgia Sarquella-Brugada
Georgia Sarquella-Brugada
RBRamon Brugada
Ramon Brugada
Aim Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a rare cardiomyopathy associated with sudden cardiac death. It is characterised by a progressive right ventricle (RV) fibrofatty replacement, although biventricular replacement (BV) is also common. Inflammation believed to be a key player in disease progression and outcome. Our study investigates the relationship between the presence of inflammatory infiltrates in myocardium and the severity of structural heart alterations in ARVC. Methods Our study included eight control and 36 ARVC postmortem human heart samples. We performed macroscopic assessment and microscopic analysis for different inflammatory cell types. Results Fibrofatty replacement of RV was present in all our cases. Thirteen cases showed sole RV involvement (36.11%). Of these, only one showed inflammatory infiltrates (7.69%). Sixteen cases showed severe ARVC phenotypic forms characterised by BV involvement and right auricular (RA) fatty accumulation plus RV dilation (44.44%); eight of them also showed inflammatory infiltrates (50%). Immunohistochemical studies revealed ventricular multifocal inflammatory infiltrates, showing seven T-lymphocytes as the main infiltrate cell types. Conclusions The presence of inflammatory infiltrates in ventricular myocardium of ARVC samples is associated with severe structural heart changes, indicating that an inflammatory process may be a modulator of severity in ARVC.
1 December 2015 in JACC
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Oscar CampuzanoOscar Campuzano
Oscar Campuzano
AFAnna Fernández-Falgueras
Anna Fernández-Falgueras
GSGeorgia Sarquella-Brugada
Georgia Sarquella-Brugada
OSOlallo Sanchez
Olallo Sanchez
SCSergi Cesar
Sergi Cesar
RBRamon Brugada
Ramon Brugada
6 March 2013 in Journal of Medical Genetics
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Journal Article
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Oscar CampuzanoOscar Campuzano
Oscar Campuzano
MAMireia Alcalde
Mireia Alcalde
CACatarina Allegue
Catarina Allegue
AIAnna Iglesias
Anna Iglesias
PGPablo García-Pavía
Pablo García-Pavía
RBRamon Brugada
Ramon Brugada
Arrhythmogenic right ventricular cardiomyopathy is a rare clinical entity characterised by fibro-fatty replacement of myocardium, mainly involving right ventricular free wall, leading to malignant electrical instability and sudden cardiac death. The disease is inherited in up to 50% of cases, with incomplete penetrance and variable phenotypic expression. To date, more than 300 pathogenic mutations have been identified in 12 genes, mainly with autosomal dominant inheritance. Here, we focus on recent advances in the genetics of arrhythmogenic right ventricular cardiomyopathy. Despite continuous improvements, current genotype–phenotype studies have not contributed yet to establish a genetic risk stratification of the disease.
1 July 2020 in Forensic Science International: Genetics
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JMJesus Mates
Jesus Mates
IMIrene Mademont-Soler
Irene Mademont-Soler
AFAnna Fernandez-Falgueras
Anna Fernandez-Falgueras
GSGeorgia Sarquella-Brugada
Georgia Sarquella-Brugada
SCSergi Cesar
Sergi Cesar
Oscar CampuzanoOscar Campuzano
Oscar Campuzano
26 June 2014 in PLOS ONE
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MAMireia Alcalde
Mireia Alcalde
Oscar CampuzanoOscar Campuzano
Oscar Campuzano
PBPaola Berne
Paola Berne
PGPablo García-Pavía
Pablo García-Pavía
ADAda Doltra
Ada Doltra
RBRamon Brugada
Ramon Brugada
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiac disease characterized by the presence of fibrofatty replacement of the right ventricular myocardium, which may cause ventricular arrhythmias and sudden cardiac death. Pathogenic mutations in several genes encoding mainly desmosomal proteins have been reported. Our aim is to perform genotype-phenotype correlations to establish the diagnostic value of genetics and to assess the role of mutation type in age-related penetrance in ARVC. Thirty unrelated Spanish patients underwent a complete clinical evaluation. They all were screened for PKP2, DSG2, DSC2, DSP, JUP and TMEM43 genes. A total of 70 relatives of four families were also studied. The 30 patients fulfilled definite disease diagnostic criteria. Genetic analysis revealed a pathogenic mutation in 19 patients (13 in PKP2, 3 in DSG2, 2 in DSP, and 1 in DSC2). Nine of these mutations created a truncated protein due to the generation of a stop codon. Familial assessment revealed 28 genetic carriers among family members. Stop-gain mutations were associated to a later age of onset of ARVC, without differences in the severity of the pathology. Familial genetic analysis helps to identify the cause responsible for the pathology. In discrepancy with previous studies, the presence of a truncating protein does not confer a worse severity. This information could suggest that truncating proteins may be compensated by the normal allele and that missense mutations may act as poison peptides.
26 February 2021 in Journal of Personalized Medicine
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Journal Article
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MVMarta Vallverdú-Prats
Marta Vallverdú-Prats
MAMireia Alcalde
Mireia Alcalde
GSGeorgia Sarquella-Brugada
Georgia Sarquella-Brugada
SCSergi Cesar
Sergi Cesar
Elena ArbeloElena Arbelo
Elena Arbelo
Oscar CampuzanoOscar Campuzano
Oscar Campuzano
Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefined. Five years ago, 39 rare ACM-related variants were identified in patients with features of cardiomyopathy. These variants were classified following the American College of Medical Genetics and Genomics’ guidelines. In the present study, we reevaluated these rare variants including novel available data. All cases carried one rare variant classified as being of ambiguous significance (82.05%) or likely pathogenic (17.95%) in 2016. In our comprehensive reanalysis, the classification of 30.77% of these variants changed, mainly due to updated global frequencies. As in 2016, nowadays most variants were classified as having an uncertain role (64.1%), but the proportion of variants with an uncertain role was significantly decreased (17.95%). The percentage of rare variants classified as potentially deleterious increased from 17.95% to 23.07%. Moreover, 83.33% of reclassified variants gained certainty. We propose that periodic genetic reanalysis of all rare variants associated with arrhythmogenic cardiomyopathy should be undertaken at least once every five years. Defining the roles of rare variants may help clinicians obtain a definite diagnosis.