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Cardiologist at Hospital Clínic of Barcelona. Coordinator of the Cardiac Genetic Diseases and Sudden Arrhythmic Death Unit (European Reference Network for rare, low prevalence and complex diseases of the heart – ERN GUARD-Heart). Coordinator of Quality at the Cardiovascular Institute. Associate professor of Universitat de Barcelona and recognised researcher of Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS).
Executive Board Member of the European Heart Rhythm Association (EHRA) Cardiac Rhythm Association of the Spanish Society of Cardiology (SEC). Chair of the Advocacy and Quality Improvement Committee at EHRA. Coordinator of Thematic Area 1: Inherited Arrhythmia Syndromes (in adults and children) at ERN Guard-Heart. Member of several Committees of the European Society of Cardiology (ESC), the EHRA and the Heart Rhythm Society (HRS, United States). Chair of the 2023 ESC Guidelines on Cardiomyopathies. Member of the Working Groups on Atrial Fibrillation and Cardiometabolic Diseases of the International Consortium for Health Outcomes Measurement (ICHOM).
Short biography:
Cardiology consultant in Hospital Senhora da Oliveira – Guimarães, Portugal
Head of the Echocardiography Lab in Hospital Senhora da Oliveira – Guimarães
Cardiologist responsible for the Myocardial and Pericardial Diseases Consultation in Hospital Senhora da Oliveira – Guimarães
Head of the Reference Center of Lysosomal Storage Disorders of Hospital Senhora da Oliveira – Guimarães
Member of the European Reference Network of Inherited Metabolic Disorders (MetabERN)
President of the National Committee for the Treatment of Lysosomal Storage Disorders in Portugal
PhD thesis on Fabry disease and the Heart
Investigator in several research project and clinical trials on Cardiomyopathies and Lysosomal Storage Disorders
Author of several scientific papers in indexed medical journals
Chair and speaker in several meetings and congresses
Preletor of Cardiology seminars in the School of Medicine of Minho University
Facultativo Especialista de Área en la Unidad de Insuficiencia Cardiaca Avanzada y Trasplante Cardiaco del Complexo Hospitalario Universitario A Coruña.
Licenciado en Medicina y Cirugía por la Universidad de Santiago de Compostela, Doctor en Medicina por la Universidad de A Coruña y Diplomado en Metodología de la Investigación – Diseño y Estadística en Ciencias de la Salud (2010-2012) por la Universidad Autónoma de Barcelona.
Realizó su formación especializada en Cardiología como Médico Interno Residente en el Servicio de Cardiología del Complexo Hospitalario Universitario A Coruña (2008-2012). Completó su formación en TAC y RMN cardiaca durante un periodo de un mes en la Unidad de Imagen Cardíaca del Hospital de la Santa Creu i Sant Pau de Barcelona y durante un periodo de cinco meses en el Clinical Cardiovascular MRI and CT Program del Hospital Mount Sinai de Nueva York.
Ha completado su formación especializada con la realización de másteres en Avances en Cardiología, Diagnóstico por Imagen en Cardiología, Insuficiencia Cardiaca, Hipertensión pulmonar y Cuidados Cardiacos Agudos
Ha realizado el proceso de acreditación en Insuficiencia Cardiaca certificado por la Heart Failure Association of the European Society of Cardiology.
Vocal de Insuficiencia Cardiaca del Grupo de Jóvenes Cardiólogos de la Sociedad Española de Cardiología.
Es además miembro de la Sociedad Europea de Cardiología, Heart Failure Cardiologists of Tomorrow y Silver Member de la Heart Failure Association.
Licenciado en Medicina y Cirugía por la Universidad de Oviedo (1990)
Doctor en Medicina y Cirugía por la Universidad de Oviedo (2000)
Especialista en Cardiología (MIR) realizado en el Hospital Universitario Central de Asturias (1992)
Fellow de la European Society of Cardiology (FESC)
Coordinador actual de la Unidad de Cardiopatías Familiares del Servicio de Cardiología del Complexo Hopitalario Universitario A Coruña, A Coruña
Coordinador del Grupo de Trabajo de Cardiopatías Familiares del Instituto de Investigación Biomédica de A Coruña (INIBIC)
Autor de más de 100 artículos publicados en revistas internacionales, participación en más de 100 conferencias y ponencias en congresos nacionales e internacionales
Connie Bezzina graduated in Pharmacy from the University of Malta in 1992 and obtained her PhD in Genetics from the same university in 1998. In 1997 she joined the Department of Experimental Cardiology at Amsterdam University Medical Center and was appointed Professor of Molecular Cardiogenetics in 2012. She is recipient of the Established Investigator award of the Netherlands Heart Foundation (2005), the Outstanding Achievement Award of the Council on Basic Cardiovascular Science of the European Society of Cardiology (2013) and the VICI fellowship of the Netherlands Organization for Scientific Research (2015). In 2018 she was appointed member of the Royal Netherlands Academy of Arts and Sciences.
Her research focuses on the identification of genetic factors that underlie inherited cardiac disorders that are associated with heart failure and life-threatening cardiac arrhythmias, and to translate these findings to genetic testing approaches for improved diagnosis, risk stratification and therapy for patients with these disorders. Her early work focused on the identification of Mendelian disease genes. In 2013 she demonstrated polygenic inheritance in the inherited cardiac disorders and has since established such complex inheritance in a number of these disorders. Her ongoing work builds further on this paradigm and focuses on developing new genetic testing approaches that consider the aggregate effect of multiple genetic variants. To enable these studies, she (co)leads national and international consortia of researchers, bringing together thousands of patients, to enable statistically well-powered genetic studies. Furthermore, in an integrative approach, she studies the identified genetic factors in induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) and gene-targeted mice to uncover novel disease mechanisms.
Elena Biagini is the Head of Echocardiography Laboratory and Cardiomyopathies, in Cardiology Unit, Cardio-thoraco-vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna.
She is part of the European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERNGUARD-Heart) and Principal Investigator of the Anderson Fabry Registry of ERN and Italian Network.
She is a Member of Task Force for 2023 ESC Guidelines on clinical and genetic aspects of cardiomyopathies.
Since December 2018 member of the Nucleus of the Study Group of Cardiomyopathies and Pericardial Diseases, Italian Society of Cardiology and since 2015 member of European Society of Cardiology and Italian Federation of Cardiology.
Scientific activity with 181 articles published in peer reviewed journals and 5 chapters published in books with ISBN code. H INDEX 43
Dr Antonia Camporeale is a cardiologist in the Multimodality Cardiac Imaging Service at IRCCS Policlinico San Donato in Milan.
She graduated in Medicine and Surgery at the Università Cattolica del Sacro Cuore in Rome in 2008.
At the Agostino Gemelli University Polyclinic in Rome, she obtained her specialisation in Cardiology in 2015 and her PhD in Cellular and Molecular Clinical Research in 2018.
Dr Camporeale began her training in cardiac MRI in 2014, thanks to a 6-month training period at Policlinico San Donato with Dr Massimo Lombardi. In 2017, he obtained the EACVI Cardiovascular Magnetic Resonance (CMR) Certification (Level 3 Accreditation).
She is in charge of the activity of acquiring and reporting cardio resonance, with specific interest in myocardial and pericardial diseases and, in particular, in Anderson-Fabry Disease.
Dr Camporeale also conducts an important research activity focused on myocardial and pericardial diseases, in particular Anderson-Fabry Disease.
Graduated in Medicine from the University of Santiago de Compostela, Spain, with Magna Cum Laude (2010). Spanish National Training in Cardiology at the University Hospital of Vigo, Spain (2011-2016) – Specialist Register in Cardiology from the UK (2017). Fellowships in Peri-Operative and Peri-Procedural Echocardiography (2016 – 2017), Adult Congenital Heart Disease Echocardiography & Stress Echocardiography (2018- 2019), and Paediatric Cardiology (2020- 2021) at the Royal Brompton and Harefield NHS Foundation Trust, London. Fellowship in Adult Congenital Heart Disease at St Bartholomew´s Hospital – Barts Trust, London (2019 – 2020). Locum Consultant
in Paediatric Cardiology and Echocardiography at Royal Brompton and Harefield Hospitals, part of Guys and St Thomas’ Trust, London (2021 – 2022). Currently Consultant in Cardiology, Congenital Heart Disease and Echocardiography at Complejo Hospitalario Universitario de A Coruña, Spain.
European Society of Cardiovascular Imaging (EACVI) Accreditations in Congenital Heart Disease Echocardiography (2019), Transoesophageal Echocardiography (2017. Re-accreditated in 2022) and Transthoracic Echocardiography (2017. Re-accredited in 2022). Master Degree in diagnosis and treatment in Paediatric Cardiology and Congenital Heart Disease, TECH Universidad Tecnológica. (In process). Master Degree in Transoesophageal Echocardiography – University Francisco Vitoria of Madrid, Spain (2017) and 1st module of Statistics for Health Science and SPSS- Universidad Autonoma of Barcelona, Spain (2012).
Professional member of the European Society of Cardiology (ESC), Silver Member of the EACVI, member of the Working Group of Congenital Heart Disease of the ESC, the Spanish Society of Cardiology and the Galician Society of Cardiology.
Publications and lectures in national and international congresses with a focus on echocardiography.
Isabel Conceição has been a consultant in Neurology and Clinical Neurophysiology at the Department of Neurosciences, CHULN, Hospital de Santa Maria in Lisbon, Portugal since 1999, where she is also the Head of the Electromyography/Evoked Potentials laboratory.
Dr Conceição has been Head of the Familial Amyloid Polyneuropathy Outpatient Unit since 2004 and coordinator of the reference centre for Familial Amyloid Neuropathy at ‘Centro Hospitalar Lisboa Norte’ since 2015.
Other positions include invited assistant of Physiology at the Translational and Clinical Physiology Unit and clinical investigator at the Neuromuscular Research Unit, both within the Centro Académico de Lisboa, Faculdade de Medicina da Universidade de Lisboa, Portugal.
She is a board member the Portuguese Society of Neuromuscular Disorders, the
Portuguese Society of EEG and Clinical Neurophysiology and on the EAN Scientific Panel Neuropathies.
Her research interests include neuromuscular disorders and clinical neurophysiology (electromyography and evoked potentials) and she is an active member of the Portuguese Neurological Society and of the International Federation of Clinical Neurophysiology.
Dr. Anne Dybro was born in Denmark, and graduated with a master of science (Msc) in Medicine from Aarhus University in 2013. Her internal medicine and cardiology training has been at Horsens Regional Hospital and Aarhus University Hospital (Skejby). In her PhD study, she investigated the pathophysiologic changes associated with exercise in patients with obstructive hypertrophic cardiomyopathy. Furthermore, she examined the effect of beta-blocker treatment on symptoms, exercise capacity and exercise-associated changes in myocardial function and invasive blood pressures in a placebo-controlled trial. Dr. Dybro has also been involved in research concerning cardiac amyloidosis and inherited dilated cardiomyopathy.
I graduated from the Medical School of the University of Thessaly in Greece.
I completed my residency in the “Department of Endocrinology, Diabetes and Metabolism” at the “Evangelismos” General Hospital in Athens, Greece and since then I worked as Endocrinologist in Greece and in Denmark.
I obtained my PhD in 2012 from the University of Amsterdam, The Netherlands. The title of my thesis was “Early stages of thyroid autoimmunity”.
Since 2018, I have been involved in research projects related to Fabry disease in the Department of Endocrinology and Metabolism in Copenhagen University Hospital Rigshospitalet, which is serving as the National Danish Fabry referral center in Denmark.
I am currently Assistant Professor of Endocrinology at the Faculty of Medicine, University of Thessaly in Greece and Senior Researcher at the Department of Medical Endocrinology in the Rigshospitalet University Hospital, Copenhagen, Denmark.
Perry Elliott is Professor of Cardiovascular Medicine at University College London and a Senior Investigator of the UK National Institute for Health Research. He is director of the UCL Institute of Cardiovascular Science UCL and a consultant cardiologist at St. Bartholomew’s Hospital London, UK. He is Chairman of the ESC Heart Academy and past chair of the ESC Council on Cardiovascular Genomics, the ESC Working Group on Myocardial and Pericardial Diseases (2010–2012) and the Executive Committee for the European Outcomes Research Programme registry on cardiomyopathies. He is President of Cardiomyopathy UK and the International Cardiomyopathy Network. He and an executive Editor for the European Heart Journal.
Dr García-Pavia, directs the Heart Failure and Inherited Cardiac Diseases Unit at the Department of Cardiology of Hospital Universitario Puerta de Hierro which is designed by the Spanish Ministry of Health national reference unit (CSUR) for inherited cardiovascular diseases and by the European Commission as a European reference center for rare and complex cardiovascular diseases. In addition to his work at the Hospital, he is also research Professor at the Spanish National Research center (CNIC) and the leader of the Inherited Cardiac Disease Program at the CIBERCV, the Spanish collaborative research infrastructure that joins the 40 leading Spanish cardiovascular research groups. Since 2021 is also Associate editor of Revista Española de Cardiología. He has published >200 articles in peer-reviewed journals including European Heart Journal, J Am Coll Cardiol, Circulation, Nature Medicine, Lancet and The New England Journal of Medicine. He also led the 2021 ESC position paper on diagnosis and treatment of cardiac amyloidosis.
José Manuel García Pinilla es doctor en Medicina por la Universidad de Málaga y Experto en Epidemiología e Investigación Clínica por la Universidad de Granada.
En la actualidad es Coordinador de la Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares del Hospital Universitario Virgen de la Victoria de Málaga.
Es Investigador senior en IBIMA (Instituto de Investigación Biomédica de Málaga) y CIBERCV (Centro de Investigación Biomédica en Red del Instituto de Salud Carlos III).
En el ámbito docente es Profesor Asociado del Departamento de Medicina y Dermatología de la Universidad de Málaga, con más de 120 artículos científicos publicados.
Ha sido hasta octubre de 2020 el Presidente de la Asociación de Insuficiencia Cardiaca de la Sociedad Española de Cardiología
Dr. Juan R Gimeno is coordinator of the reference Inherited Cardiac Disease Unit at the Hospital Clinico Universitario Virgen de la Arrixaca in Murcia from 2003 (CSUR and ERN accredited). He is associate professor of Internal Medicine- Cardiology at the Universidad de Murcia, Spain. His main research interest includes: clinical predictors of outcomes in various cardiomyopathies and channelopathies, development of strategies for sudden death prevention, genotype-phenotype studies, identification of new candidate genes associated with inherited conditions of the heart and animal model development. Dr. Gimeno´s group has participated in several national and international consortiums and clinical trials in the field. He has co-authored over 155 papers in international, peer-reviewed journals (h-index 41).
https://www.scopus.com/authid/detail.uri?authorId=7005858968
La Dra. González López se formó como especialista en cardiología en el Hospital Universitario Puerta de Hierro Majadahonda (HUPHM). Tras finalizar el MIR, se incorporó como Clinical/research fellow a la Unidad de Cardiopatías Familiares del HUPHM. Durante este período, además de subespecializarse en miocardiopatías, finalizó su tesis doctoral sobre técnicas de imagen en amiloidosis cardíaca por transtiretina. Fruto de dicha tesis, se derivó la publicación de su primer trabajo en Eur Heart J, objeto del Premio de Investigación Dr. Cardeñosa 2015 de la Real Academia de Medicina al mejor trabajo en Cardiología en España en 2015.
En 2015, se unió como Río Hortega al grupo de Regulación Molecular de la Insuficiencia cardíaca del CNIC. Durante este período, tuvo la oportunidad de realizar 2 estancias en centros de referencia internacional en el campo de la amiloidosis: National Amyloidosis Centre (NAC) de Londres y Brigham and Women’s Hospital de Boston.
Al finalizar su Río Hortega, la Dra. González se incorporó como Consultant Cardiologist en el NAC donde realizó actividad investigadora y asistencial, incluyendo la dirección del servicio de ecocardiografía.
La Dra. González López se reincorporó al servicio de Cardiología del HUPHM como médico adjunto en enero de 2019, con dedicación compartida entre la unidad de imagen cardíaca y la unidad de cardiopatías familiares, centro de referencia nacional (CSUR).
Ha participado como investigadora principal y colaboradora de proyectos FIS y es actualmente Vocal de Investigación y genética cardiovascular del Grupo de Jóvenes SEC y Vocal de la Sección de Cardiopatías Familiares y genética CV de la SEC.
1.- FORMACIÓN ACADÉMICA Y LABOR ASISTENCIAL
Cardiólogo, especializado en electrofisiología, con 16 años de experiencia. Amplia labor asistencial, docente e investigadora, en el campo de las arritmias y electrofisiología. Máster por Universidad CEU San Pablo en Electrofisiología y acreditado para la práctica de electrofisiología clínica por las Sociedades Europea y Española de cardiología. Premio a mejor expediente final de carrera en la Universidad de Granada, premio a mejor residente del Hospital Universitario Virgen de las Nieves y Accésit de Premio Sanitas MIR a mejor residente año 2012. Desde el punto de vista asistencial, coordino la Unidad de Cardiopatías Familiares, con más de 700 familias en seguimiento, siendo referencia para estas patologías de Granada y Andalucía Oriental, y a nivel nacional un centro pionero en la atención e investigación de la muerte súbita cardíaca; he sido presidente de la Sección de Cardiopatías Familiares y Genética cardiovascular de la SEC desde 2020 a 2022. Además, parte de mi labor la desarrollo como electrofisiólogo de la Unidad de arritmias donde se realizan 500 procedimientos de electrofisiología y 400 implantes de dispositivos anuales. Tengo experiencia como primer operador en más de 1000 procedimientos de ablación y/o implante de dispositivos cardíacos (más de 300 casos de ablación de venas pulmonares, tanto con radiofrecuencia como crioablación). Acredito Dos estancias en el extranjero en centros de prestigio y referencia internacionales, para formación asistencial. a) Año 2011, estancia de 6 meses en The Heart Hospital (UCLH, London) para el estudio de miocardiopatías, canalopatías y muerte súbita. b) Año 2016, 1 mes en Pharmacology Department, Northwestern University, Chicago, para el estudio de los efectos funcionales de nuevas mutaciones en calmodulina como causa de muerte súbita en niños.
2.- LABOR INVESTIGADORA
Más de 80 publicaciones indexadas, incluyendo revistas de alto factor de impacto e incluídas en primer cuartil y decil de la categoría (ver listado, destacando NEJM, JACC, JAMA, Eur Heart J, Circulation, JAMA Cardiology). Numerosos premios por investigación en el ámbito de las arritmias y la muerte súbita cardíaca. He dirigido 5 Tesis Doctorales Y 14 trabajos de fin de grado, y actualmente hay 4 más en curso bajo mi dirección. Desde 2017 soy coordinador del grupo de investigación cardiovascular del Instituto de Investigación Biosanitaria de Granada y D
director del grupo PAIDI de investigación (CTS 1064, “Genética y Arritmias”) de la Junta de Andalucía. He sido Jefe de Grupo de un contrato Río Hortega para el estudio de los efectos electrofisiológicos a nivel celular de las mutaciones tipo truncamiento en Filamina C (becario Dr. Francisco Bermúdez Jiménez, CM19/00227). Asimismo, soy Investigador Principal de proyectos con financiación pública competitiva y privada, destacando Proyecto de Investigación de la Junta de Andalucía con financiación competitiva (PIER-0231-2019, 66.861€) para el estudio del efecto del ejercicio físico sobre las arritmias ventriculares en la miocardiopatía arritmogénica, así como Investigador principal de un Proyecto La Marató de TV3 (202041, 100.000€) para el estudio de las características electrofisiológicas y mecanismos de enfermedad del Síndrome de QT largo tipo 7. Por último, la red de colaboraciones de investigación con otros centros de investigación en la que participo es amplia incluyendo el Centro Nacional de Investigación Cardiovascular, Northwestern University, otros centros de la red CIBERcv y Departamento de Farmacología de la Universidad Complutense de Madrid, con una elevada producción científica derivada de estas colaboraciones en las que tengo un papel central.
3.- LABOR DOCENTE
Desde septiembre de 2021 soy profesor asociado del Departamento de medicina de
la Universidad de Granada. Previo a esto he sido colaborador docente del departamento, con una excelente valoración por el estudiantado en encuestas, y acumulando más de 250 h docentes entre horas teóricas y prácticas. Estoy acreditado por la ANECA y por la Agencia andaluza del Conocimiento como Profesor Contratado Doctor. Desde 2017 a 2021 fui tutor de residentes de cardiología y desde hace más de 5 años, coordinador de las prácticas clínicas hospitalarias en mi especialidad para la Universidad de Granada, así como del rotatorio de sexto curso. Profesor contratado doctor vinculado a la Universidad de Granada desde Julio de 2023.
Associate Professor Juan Pablo Kaski MD(Res) FRCP FESC
Dr Kaski is Associate Professor of Paediatric Inherited Cardiology at the UCL
Institute of Cardiovascular Science, where he leads the UCL Centre for Paediatric
Inherited and Rare Cardiovascular Diseases, and Consultant Paediatric Cardiologist
at Great Ormond Street Hospital (GOSH), London, UK. He is the Director of the
GOSH Centre for Inherited Cardiovascular Diseases. His clinical and research
interests are focused on the clinical and genetic characterisation of inherited
cardiovascular disease and sudden cardiac death in childhood.
He is immediate past-Chair of the Association for European Paediatric Cardiology
(AEPC) Working Group on Genetics, Basic Science and Myocardial Disease and sits
on the Executive Board of the European Society of Cardiology (ESC)
Cardiomyopathy and Myocarditis Registry Programme and the ESC Council on
Cardiovascular Genomics. He leads an international paediatric HCM consortium of
over 45 centres, which was responsible for the development of the first sudden death
risk prediction model for childhood HCM. He is Chair of the Task Force for the 2023
European Society of Cardiology Cardiomyopathy Guidelines.
Licenciado en Medicina y Cirugía por la Universidad de Santiago de Compostela (USC) en 2012, con premio extraordinario de fin de carrera. Especialista en Cardiología (2013-2018) en el Complexo Hospitalario Universitario A Coruña (CHUAC), obteniendo el segunda mejor calificación nacional en el Exam in General Cardiology de la European Society of Cardiology (ESC, 2017). Estancia formativa de 6 meses de duración en la unidad de imagen cardiovascular (TC/RM) del H. Mount Sinai (2016). Diplomado en diseño y estadística en ciencias de la salud (2015-2017) por la Universidad Autónoma de Barcelona (UAB). Máster Online de Ecocardiografía Clínica (ECOSIAC) (2020). Máster Universitario en Diagnóstico por la Imagen en Cardiología (2021). Título de Experto en Cardiopatías Familiares (2021).
Desde el año 2018, trabaja formando parte de la Unidad de Cardiopatías Familiares del CHUAC.
El Dr. Javier Limeres Freire es licenciado en Medicina y Cirugía por la Universidad de Santiago de Compostela. Completó su formación médica especializándose en cardiología, y posteriormente completó su formación con una subespecialización en cardiopatías hereditarias y cardiogenética. Trabaja en la Unidad de Cardiopatías Familiares y en la Unidad de Cardiogenética del Hospital Vall d’Hebron y participa como profesor de cardiogenética en la formación de grado y postgrado por diferentes universidades. Es miembro de varias sociedades científicas nacionales e internacionales, y actualmente forma parte de la junta directiva del Grupo de Trabajo de Cardiopatías Familiares y Cardiogenética de la Sociedad Española de Cardiología. Su área de investigación se desarrolla en el campo de las miocardiopatías y es miembro de la red de investigación cardiovascular en cardiogenética (CIBER-CV).
Dr. Masri’s specializes in caring for patients with conditions that result in abnormally thickened hearts, such as hypertrophic cardiomyopathy, amyloidosis and Fabry’s disease. Dr. Masri trained in Internal Medicine at the Cleveland Clinic, where he developed his passion for improving the lives of patients with heart disease. Subsequently, he moved to the University of Pittsburgh, where he completed training in cardiovascular diseases. Dr. Masri is also an expert in cardiac imaging. He spent two years at the University of Pittsburgh supported by a grant from the National Institute of Health, focusing on cardiac magnetic resonance imaging, nuclear cardiology, and echocardiography. These modalities constitute the cornerstone of diagnosing and following up patients with thickened hearts. From diagnostic approaches to therapeutics, Dr. Masri led numerous research projects that resulted in publications in leading academic journals.
Dr. William McKenna was born in Canada, completed a BA at Yale University, and then graduated from McGill University Medical School with Internal Medicine training at the Royal Victoria Hospital, Montreal, and Cardiology training at the Hammersmith Hospital/Royal Postgraduate Medical School, London. He established the Inherited Cardiac Disease clinic at St George’s Hospital and subsequently at the Heart Hospital – University College London. His main interests have been in clinical and basic research of the inherited cardiomyopathies. His recent work has contributed to the identification of disease-causing genes in HCM, DCM and ARVC, to the establishment of new diagnostic criteria within the context of familial disease, and to the establishment of algorithms to identify patients at high risk of sudden death. He has published more than 500 research papers in peer review journals.
Lorenzo Monserrat, MD, PhD
Co-founder and current Medical Director or Dilemma Solutions.
Co-founder of Health in Code
Medical degree in Santiago de Compostela, Research Fellowship in Cardiomyopathies at St George´s University Hospital in London. Specialist in Cardiology and PhD in A Coruña University. Diplomature in Design and Statistics in Health Sciences (Autonoma University, Barcelona). Former researcher of the Galician Health Service and Chief of the Inherited Cardiovascular Diseases Reference Unit in A Coruña University Hospital. Co-author of >150 papers focused on inherited cardiovascular diseases and cardiovascular genetics. Participation and leadership in multiple research projects on the field of cardiovascular genetics.
James is Professor of Cardiology and leads cardiac MRI at Barts Heart Centre, UCLH and UCL, London. The winner of the 2022 SCMR gold medal, his research (500 papers, H index 100) focuses on better understanding rare and common heart conditions by creating new tests, linking them to treatment and delivering them to global care. A particular interest is imaging tissue characterisation (scar, oedema, infiltration) and using AI to better diagnose and monitor disease. During COVID he founded COVIDsortium – the world’s best study of mild COVID. He is CEO of Mycardium AI Ltd which translates AI to global care and drug development – currently working with multiple Pharma companies for the development of therapies for myocardial disease.
I graduated from the school of Medicine cum laude from the National University of La Plata
in Argentina and subsequently did my training in Internal Medicine and Cardiology during the
following 7 years, obtaining two specialties degrees. In Argentina I actively participated in
teaching and research. Much of this work is reflected in my first publications as the first or
second author in Revista Argentina de Cardiología and Rev Esp Cardiol. I also participated
in national and international meetings, being awarded by the Argentine Society of Cardiology
with the Best Work in Echocardiography in 2013.
In 2014 I decided to emigrate to Spain to enhance my career as a researcher in cardiovascular
genetics. I did my Ph.D. in the Biomedical Research Institute of the University of La Coruña
and simultaneously worked part-time in the leading Spanish cardiovascular genetics company
Health in Code.
My doctoral thesis described for the first time FHOD3 as a disease-causing gene of
hypertrophic cardiomyopathy. We conducted a multicentre study including clinical and genetic
data of patients from 25 European centres and was published in J Am Coll Cardiol in 2018
followed by another paper in Clin Genet in 2020 describing clinical consequences of deletions
in FHOD3. Our research had clear translational consequences being FHOD3 now routinely
incorporated in the genetic evaluation of hypertrophic cardiomyopathy patients. During my
PhD in A Coruña I was able to undertake a stay abroad at the Centre of Muscle and Heart
Diseases of the University College of London (UK). As a consequence of this stay my thesis
also obtained the European international mention and I continued collaborating with this worldleading cardiovascular genetics research centre authoring several other publications in highimpact
journals (Norrish et al. Circulation 2019; Akhtar et al. Circ Heart Fail 2020; Lorenzini et
al. J Am Coll Cardiol 2020; Lopes LR et al. Circ Genom Precis Med. 2020).
My PhD period was certainly fruitful and I authorship several publications, many of them in
the top cardiovascular journals (Ortiz-Genga et al. J Am Coll Cardiol 2016; Dominguez et al. J
Am Coll Cardiol 2018; Trujillo-Quintero et al. Rev Esp Cardiol 2019; Barriales-Villa et al. Rev
Esp CArdiol 2019; O’Mahony et al. Heart 2019; Peña-Peña et al. Int J Cardiol 2020; Salazar-
Mendiguchía et al. Heart 2020; Barriales-Villa et al Rev Esp CArdiol 2020; Lopez-Sainz et al.
J Am Coll Cardiol 2020, etc.). I am certainly proud of this period as I was able to participate
in the discovery of 4 new cardiomyopathy disease-causing genes (FLNC, TRIM63, FHOD3,
and ALPK3).
As a consequence of my complementary dedication to research in University of A Coruña and
my work in Health in Code I gained broad experience in and NGS technology, interpretation of
exomes/trios, and functional studies and supervising a group of cardiologists and geneticists.
My main areas of research have been the relevance of genetics in the prognosis of
cardiomyopathies, and the discovering of new genes and mechanisms of disease in inherited
cardiac disease. From September 2020 I’m working as a researcher in the Cardiomyopathies
Research Group in the Puerta de Hierro Hospital, being also a scientific visitor in the CNIC
(National Reserch Center on Cardiovascular Diseases, Madrid, Spain) and an associated
member of the Biomedical Research Institute (INIBIC) of A Coruña. In September 2021 I
returned to Health In Code as Director of Cardiology, being in charge of a multidisciplinary team including cardiologists, biologists, bioinfomatics and one data-scientist.
Prof. Iacopo Olivotto is Head of the Cardiology Unit at Meyer University Children Hospital and Professor of Cardiovascular Medicine at the University of Florence, Italy. Over the last two decades, his main clinical and research interests have includes various aspects of cardiomyopathies, with special focus on hypertrophic cardiomyopathy. Prof. Olivotto has been involved in drug development, design and execution of randomized studies in genetic cardiomyopathies. He has co-authored over 300 papers in international, peer-reviewed journals. Prof. Olivotto is a co-founder and board member of The Sarcomeric Human Cardiomyopathy Registry (Share), ICON (International CardiomyOpathy Network), and the Hypertrophic Cardiomyopathy Medical Association.
RESUMEN BIOPIC
Colombiano de nacimiento
Médico de la Pontificia Universidad Javeriana de Bogotá. MREs y PhD en ciencias biomédicas y moleculares de la Universidad de Newcastle en Reino Unido. Residencia en Cardiología en el Hospital Clínico Universitario de Valladolid. Ha trabajado como cardiólogo de la empresa de análisis genéticos Health in Code y como cardiólogo clínico y ecocardiografista con énfasis en cardiopatías familiares en el Complejo Universitario de Vigo.
Desde hace 5 años trabaja en el Hospital Universitario 12 de Octubre como coordinador y cardiológo clínico de la Unidad de Cardiopatías heredables.
Su área investigadora durante sus estudios doctorales se focalizó en la genética de enfermedades cardiovasculares complejas, particularmente en la genética de las malformaciones congénitas del tracto de salida de ventrículo izquierdo.
Actualmente su actividad clínica e investigadora se centra en las cardiopatías hereditarias. Se encuentra particularmente interesado en las correlaciones genotipo fenotipo
Licenciado en Medicina, Universidad de Granada. Cardiólogo, Hospital Universitario Reina Sofía de Córdoba. Especialización en Cardiopatías Familiares mediante la realización de una estancia en The Heart Hospital en Londres y posteriormente como cardiólogo clínico en Health in Code, centro especializado en Genética Cardiovascular en A Coruña. Desde 2015, Facultativo Especialista de Área de Cardiología, Unidad de Imagen Cardíaca y Cardiopatías Familiares, Hospital Universitario Virgen del Rocío, Sevilla.
Stefano Perlini, MD, PhD is a Full Professor and Consulting Cardiologist for the Amyloidosis Center at University of Pavia in Italy. His main research interest is the study of the mechanisms underlying systolic and diastolic dysfunction evident in myocardial hypertrophy and in different cardiomyopathies in both the clinical and experimental setting. He has a 25-year experience in diagnosing and treating amyloid-related cardiomyopathy. He is currently Director of the Emergency Medicine Postgraduate Training Program of the University of Pavia
Juan Politei es médico especialista en Neurología. Actualmente cumple funciones como médico neurólogo de Staff en la Fundación para el estudio de las enfermedades neurometabólicas, Laboratorio Neuroquímica Dr Néstor Chamoles en Buenos Aires, Argentina. Es profesor asistente de neurología de la carrera de medicina del instituto universitario de ciencias de la salud, facultad de medicina de la FUNDACIÓN H. A. BARCELÓ.
Cumplió su residencia en Neurología en el Hospital Juan Fernández de Buenos Aires, donde luego de completar su jefatura de residentes permaneció por 8 años coordinando el consultorio de enfermedades neuromusculares y dolor neuropático.
Su experiencia en las enfermedades neurometabólicas se inició en el año 2002; a la fecha se encuentra siguiendo pacientes con varias patologías metabólicas como enfermedad de Fabry, las mucopolisacaridosis, glucogenosis, leucodistrofias, obesidades monogénicas y xantomatosis cerebrotendinosa entre otras.
Ha publicado más de 75 artículos en revistas indexadas en Pubmed, participado en libros de Neurología y colabora con grupos de investigación en ciencias básicas de distintas universidades en el exterior. Se desempeña como docente en la rotación sobre errores congénitos del metabolismo. Ha colaborado como autor en las últimas guías internacionales sobre enfermedad de Fabry y de Pompe en Argentina, así también es primer autor en las guías para el manejo de dolor en las MPS para Latinoamérica.
Dr. Quintana trained in cardiovascular surgery at Hospital Clínic Barcelona, followed by a 2 year clinical fellowship at the Mayo Clinic Rochester MN. He is a consultant cardiovascular surgeon and associate professor of surgery at the University of Barcelona Medical School – Hospital Clínic. He is a teacher and coordinator in the Biomedical Engineering Degree at the University of Barcelona. He is currently in charge of the Cardiovascular Surgery and Postoperative Critical Care fellowship and residency programs. He is a Board Member, Secretary and Examiner of the European Board of Cardiovascular and Thoracic Exam of the EACTS. His clinical interests focus on hypertrophic cardiomyopathy, infective endocarditis and disease of the aorta. In the field of surgical treatment of HCM Dr. Quintana completed his PhD in 2015. He also has contributed to the establishement of Hospital Clínic de Barcelona as a national referral center for septal myectomy and is currently supporting the development 2 other national referral centers in Europe. Dr. Quintana has been a board member of the EACTS Vascular Domain and is a board member ot the EACTS Francis Fontan Fund Fellowship. Dr. Quintana serves in the International Advisory Boards of both The Asian Cardiovascular and Thoracic Annals and The Indian Journal of Thoracic and Cardiovascular Surgery
Tomas Ripoll Vera, MD, PhD, FESC
– Licenciado en Medicina y Cirugía por la Universidad de Navarra (1993)
– Médico especialista en Cardiología vía MIR por el Hospital Universitario Son Dureta (1999).
– Doctor en Ciencias Biosanitarias por la Universidad de las Islas Baleares (2014), con calificación cum laude.
– Jefe de Servicio de Cardiología y Coordinador de la Unidad de Cardiopatías Familiares y Généticas del Hospital Universitario Son Llátzer (Palma de Mallorca, España).
-Profesor asociado de Cardiología en la Facultad de Medicina de la Universidad de las Islas Baleares.
– Presidente de la Sección de Cardiopatías Familiares y Genética Cardiovascular de la Sociedad Española de Cardiología 2018-2020.
– Investigador Principal del Grupo Balear de Investigación en Cardiopatías Genéticas, Muerte súbita y Amiloidosis por transtiretina del Instituto de Investigación de Baleares (IdISBa)
– Codirector del Programa MUSIB (estudio de la muerte súbita en jóvenes en Baleares).
– Miembro numerario del “Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology” y del “Council on Cardiovascular Genomics of the European Society of Cardiology”.
– Fellow de la European Society of Cardiology desde 2017.
– Premio “Jean Dausset” 2014 de la Real Academia de Medicina y Cirugía de las Islas Baleares, a la mejor tesis doctoral.
– Premio “Damiá Carbó” 2014 y 2020 de la Fundación Patronato Científico del Colegio Oficial de Médicos de las Islas Baleares, al mejor trabajo de investigación.
– Autor de 80 publicaciones en revistas de alto impacto, más de 100 comunicaciones y más de 100 ponencias en congresos y cursos de formación nacionales e internacionales.
Me licencié en 1999 en la Universidad Miguel Hernández (Alicante, España) con un Premio Extraordinario de Licenciatura en Medicina. Posteriormente realicé la residencia en cardiología y subespecialización en imagen cardiaca en el Hospital Vall Hebrón (Barcelona, España). Más tarde, entre 2006-2007 hice una beca de investigación en el Departamento de CRM y Cardiac-CT del Northwestern Memorial Hospital (Chicago. Illinois. EE. UU.). Hice el doctorado en CRM en la Universidad Autónoma de Barcelona con obtención del título de doctorado con la cualificación cum-laude. Actualmente soy el director del Departamento de Imagen Cardíaca del Hospital Vall Hebrón y profesor asociado de la Universitat Autónoma de Barcelona. Soy, además, miembro del board de acreditación de CRM de la Sociedad Europea de Cardiología, secretario del grupo de trabajo de patología aórtica y enfermedad vascular periférica de la Sociedad Europea de Cardiología, y presidente de la Asociación de valvulopatías y patología aórtica de la Sociedad Española de Cardiología. También, soy miembro del comité de registros de la Sociedad Americana de cardio-resonancia magnética (SCMR) y del comité de práctica clínica de la SCMR. Finalmente, también he participado en muchas actividades importantes para la Sección de CRM de la Sociedad Europea de Cardiología (abstract chair CMR 2018, program chair EuroCMR 2019 y abstract chair EACVI 2020).
Name: Prof. Dr.med. Hubert Seggewiss
School and academic training
April 1962 – June 1974 – School in Bocholt, Examination 19.06.1974
WS 74/75 – WS 80/81- Medical training in Cologne and Münster,
Clinical training
13.04.1994 – Postdoctural Thesis: „PTCA in Patients with Multivessel
Disease – Clinical follow-Up with Respect to Degree of Revascularization“
Qualification as University Lecturer (Venia legendi in Internal Medicine) at the Ruhr-University Bochum
13.05.1995 – Doctor of Internal Intensive Care Medicine
13.08.1999 – Prof. of Internal Medicine/Cardiology, University Bochum
24.02.2016 – Prof. of Internal Medicine/Cardiology, University Würzburg
01.05.2000-30.06.2017- Director Medizinische Klinik I, Leopoldina-Krankenhaus, Schweinfurt
01.04.2018-31.03.2020 – Consultant HOCM. Klinikum Würzburg Mitte, Juliusspital
Actual Medical Practise
Since 01.04.2020 – Deutsches Zentrum für Herzinsuffizienz (DZHI). Universität Würzbug, Head of HCM-Clinic
Membership in Scientific Societies
Since 1.1.1985 – German Society of Cardiology
Deutsche Gesellschaft für Kardiologie,
Herz- und Kreislaufforschung and European Society of Cardiology- ESC
2008-2012 – Member of the Nucleus of the ESC Working Group. Myocardial and Pericardial Disease
2018, May – Honory Member of the Hungarian Society of Cardiology
Professor Sanjay Sharma O St John, BSc (Hons), MD, FRCP, FESC
Sanjay Sharma is Professor of cardiology and head of research for the clinical
academic group at St George’s University of London and St George’s NHS
Foundation trust. His interests, heart muscle disease, sudden cardiac death in
the young, and cardiovascular adaptation in athletes for which he has an
international reputation.
Professor Sharma is the director for all the largest sports cardiology unit in the
UK which is responsible for assessing athletes with potentially serious cardiac
diseases from numerous major sporting organisations in the UK. He is medical
director of the London marathon and has been commended for providing one of
the best medical services for endurance events in the world. He was awarded
membership of Venerable Order of St John for his services to St John
Ambulance for supporting the medical welfare of the runners. Professor Sharma
lead cardiologist for the 2012 London Olympics and provided medical services
for all endurance sports.
Professor Sharma has previously held posts as chairman of the ESC sports
cardiology nucleus, board member for the European Association of
Cardiovascular Prevention, congress programme committee member of the
European Society of Cardiology in Preventive Cardiology, “Best of ESC” expert
group and International associate editor for the European Heart Journal. He is
currently a senior member of the ESC media and communications committee
and editor for the ESC Congress News.
Working with the charitable organisation, Cardiac Risk in the Young (CRY) for
the past 20 years, Professor Sharma leads the largest cardiac screening
programme in the UK for individuals aged 14-35 years old.
Prof Maria Teresa Tome Esteban, MD, PhD, FESC
Prof Tome is a Consultant Cardiologist and Professor of Practice in Cardiology specializing in the diagnosis, treatment, management and counselling of inherited cardiovascular diseases and the prevention of sudden cardiac death. She graduated in 1996 in Madrid at UCM and trained as a cardiologist at Hospital de la Princesa, Madrid. She completed research for her PhD studies at St George’s Medical School and UCL in London, funded by the SEC and BHF, in 2004. She became a full-time consultant cardiologist in Inherited cardiac conditions at UCLH in 2005, working at The Heart Hospital and GOSH. She has been working at St George’s Hospital since 2015, where she leads specialized Inherited Cardiac Conditions clinics and is the cardiac lead of the Inherited aortic service. Her special interests include LVOTO, cardio-obstetrics, epidemiology and outcomes in cardiomyopathies, transition and adolescence care and genomic medicine.
Licenciado en Medicina por la Universidad de Salamanca en el año 2003 con un expediente de sobresaliente, completó la formación MIR (2004-2009) en Cardiología en el Instituto de Ciencias de Corazón del Hospital Clínico Universitario de Valladolid. A continuación se le concedió del Instituto Carlos III un contrato Río Hortega en el Laboratorio de Cardiología Experimental del Institut de Recerca del Hospital Universitari Vall d`Hebron donde realizó un trabajo de investigación básica en relación con la genética y fisiopatología mitocondrial con la insuficiencia cardiaca. Continuó con su actividad profesional en el Hospital General Universitario Gregorio Marañón, donde participó de forma activa en el Programa de Cardiopatías Familiares, Centro de Referencia Nacional (CSUR) para dichas patologías. En este periodo finalizó el programa de doctorado de la Universidad Complutense con la lectura de la tesis doctoral “Participación de las nanobacterias en la etiopatogenia de la valvulopatía aórtica degenerativa” con una calificación de Sobresaliente “cum laude”.
Actualmente trabaja como coordinador del Área Clínica. Coordinador del Programa de Cardiopatías Familiares del Complejo Asistencial Universitario de Salamanca, acreditado como Centro de Referencia Nacional por parte del Ministerio de Sanidad (CSUR); Corresponsable del Programa de Actuación del Grupo Asistencial de la Endocarditis Infecciosa en el Complejo Asistencial Universitario de Salamanca (GAESAL). Corresponsable del Programa Multidisciplinar para el diagnóstico y manejo de la Amiloidosis cardiaca en el Complejo Asistencial Universitario de Salamanca. Desde Febrero de 2017 es Profesor Asociado del Departamento de Medicina de la Universidad de Salamanca.
Es miembro del Comité Proceso Hospitalización del Complejo Hospitalario de Salamanca desde 2016. Miembro del Grupo de Investigación Cardiología del Departamento de Medicina de la Universidad de Salamanca. Miembro de Grupo de Investigación CB16/11/00374 del Centro de Investigación Biomédica en Red de las Enfermedades Cardiovasculares (CiberCV). Miembro afiliado de la Sociedad Española y Europea de Cardiología; Miembro de la Sección de Cardiopatías Familiares de la Sociedad Española y de la Sociedad Europea de Cardiología, de la que pertenezco a la Junta directiva como Presidente electo.
Autor de 41 artículos científicos y 17 capítulos de libros. Ha participado como autor o coautor en más de 90 abstracts en congresos nacionales e internacionales. También ha participado, y actualmente participa, en 10 proyectos de investigación multicéntricos de carácter nacional e internacional de co-investigador e investigador principal.
James is a Professor of Cardiovascular and Genomic Medicine at the National Heart & Lung Institute, Imperial College London; an MRC Investigator at the London Institute of Medical Sciences; and honorary Consultant Cardiologist at Royal Brompton Hospital and Hammersmith Hospital. He graduated from the University of Cambridge, trained clinically in London & Geneva, and pursued research training at Imperial College London, Harvard Medical School, and the Broad Institute of MIT & Harvard, before starting a research group at Imperial.
James’ research aims to understand the impact of genetic variation on the heart and circulation, and to use genome information to improve patient care. Working with collaborators in the UK and internationally, his team are identifying new genes and pathways underlying inherited cardiovascular conditions, developing tools to discriminate between pathogenic and benign genetic variation, and evaluating genetic stratification for precision medicine.
James is also Director of the national MRC Cardiovascular Rare Disease Node and co-lead of the Cardiovascular Research Programme for Genomics England (GECIP).
Clinical interests include the management of Inherited Cardiac Conditions, and the broader application of genetics and genomics to healthcare.
Hugh Watkins is the Radcliffe Professor of Medicine at the University of Oxford and Honorary Consultant in Cardiology at the John Radcliffe Hospital. He is lead investigator of CureHeart, a programme aiming to create genetic therapy cures for cardiomyopathy, funded by the BHF Big Beat Challenge.
Professor Watkins has contributed to the understanding of the molecular genetic basis of cardiovascular disease, using genetic approaches to define disease mechanisms and to improve diagnosis and treatment of patients and families with inherited diseases. Through both his Mendelian and complex trait genetics work, Professor Watkins has defined some of the most medically important disease genes affecting the cardiovascular system. He has built up a specialist clinical and laboratory genetic service in Inherited Cardiac Conditions in Oxford. He is a Fellow of the Royal Society and a Fellow of the Academy of Medical Sciences.