The main aim of the project is to create a consortium to bring together the basic and clinical research of the Laboratory of Cardiac Electrophysiology of the Department of Pharmacology of the Faculty of Medicine (University Complutense of Madrid), the Laboratory of Genetics of Cardiac Arrhythmias of the Cardiovascular Institute (Hospital Clínico San Carlos) and the Services of Cardiac Electrophysiology and Cardiology of six University Clinical Hospitals of the Community of Madrid-CAM ( La Paz , Ramón y Cajal, Puerta de Hierro, 12 de Octubre, Clínico San Carlos and Getafe) to address the diagnosis, prognosis and treatment of genetically determined cardiac arrhythmias (GDCA).
The Consortium is designed to coordinate the resources in clinical assistance, technology and research already existing in the CAM to facilitate/stimulate the translational research in the field of GDCA. Our goal is to recruit patients with the diagnosis of a primary arrhythmogenic cardiomyopathy at these 6 Hospitals of the CAM in whom it is suspected that the arrhythmia is caused by a mutation in a gene(s) encoding a constitutive protein of a cardiac ion channel or that participates in the channelosome.
A genetic test will be performed in these patients and the candidate gene will be identified by association with the phenotype. When the underlying mutation is identified, a functional study of the mutated protein will be performed in the Laboratory of Cellular electrophysiology to determine the possible arrhythmogenic mechanism produced by the mutation. We should like to point out that the interest of the Consortium is focused on primary GDCA caused by channelopathies, not on arrhythmogenic cardiomyopathies secondary to structural alterations of the myocardium.
The creation of the Consortium will allow:
To recruit and diagnose patients (probands) and their immediate relatives affected by cardiac arrhythmias suspected of having a channelopathy from virtually THE ENTIRE POPULATION OF THE CAM. Therefore, the LARGE SAMPLE SIZE ensures the identification of probands even when the prevalence of some of the arrhythmogenic syndromes is low.
To perform a genetic test in a LABORATORY SPECIALIZED in the study of channelopathies and accesible to all the hospitals of the Consortium.
To perform functional studies by a research team specialized in cardiac electrophysiology and pharmacology.
To create the first BIOBANK of blood samples of the probands and their immediate relatives who meet all the requirements (confidentiality, identification of samples, safeguards, informed consent, etc.) stated in the Biomedical Research Act (14/2007). The Biobank will allow to reassess in the future blood samples for molecular diagnosis of patients as new genes will be added to the list of candidate genes.
To create a Registry of patients with genetically determined cardiac arrhythmias diagnosed in the hospitals of the Consortium. The Registry will result in a database that will allow future clinical and epidemiological research on the ACGD in the CAM .
To create a Web site to disseminate information on genetically determined cardiac arrhythmias to the general population and to alert to potential patients on the importance of visiting a cardiologist if they present certain symptoms.