BCDRI6 - Heart Failure and Cardiomyopathies

The Inherited Cardiac Diseases Unit was established in 2009 within the heart transplant programme of the Hospital Puerta de Hierro, with the arrival of Dr García Pavía and Dr Cobo after both completed a period as research fellows at the Inherited Cardiac Diseases Unit of the Heart Hospital in London.
The Inherited Cardiac Diseases Unit initially arose with the aim of providing genetic counselling and
care to families with inherited cardiomyopathies referred for heart transplantation. The unit soon expanded to become one of the largest inherited heart disease programmes nationally. Thanks to its important clinical work and strong research activity, it was designated a National Reference Centre (CSUR) by the Spanish Ministry of Health in January 2013 and a European Reference Centre for rare cardiac diseases (ERN healthcare provider) by the European Commission in 2017.
In 2011 the group achieved complete independence from a research standpoint and
became established as an emerging research group of the IIS Puerta de Hierro. The research team is led by Dr García-Pavía, consultant physician in the Cardiology Department and coordinator of the Inherited Cardiac Diseases Unit at the Hospital Puerta de Hierro since its creation.
The group takes part in numerous collaborative studies with national and international groups in the field of inherited cardiac diseases, with multiple collaborative papers published in recent years: Garcia-Pavia, et al. Heart 2011; Garcia-Pavia, et al. Eur J Heart Fail 2011; Gallardo ME, et al. Eur Heart J 2012; Campuzano O, et al. J Med Genet 2013; Guttmann, et al. Eur J Heart Fail 2015; Guzzo-Merello et al. JACC Heart Failure 2015; Calvete, et al. Nat Commun. 2015; Gonzalez-Lopez Eur Heart J 2015; Gallego-Delgado M, et al. Int J Cardiol 2015; Gallego-Delgado JACC 2016; Claes, et al. Eur Heart J. 2016; Barriales-Villa R, et al. Rev Esp Cardiol 2016, Cuenca et al. J Heart Lung Transplant 2016; Ortiz-Genga JACC 2016; González-López E, et al. Eur Heart J. 2017; Calvete et al. Eur J Hum Genet. 2017; Amor-Salamanca et al. JACC 2017; Guttmann, et al. Heart 2017; Dominguez F, et al. Int J Cardiol. 2017; Yardeni M et al. Am J Med Genet 2017; Restrepo-Cordoba et al. J Cardiovasc Trans Res 2017; O´Mahony et al. Circulation 2018; Dominguez et al Heart 2018; Mates et al. Eur J Hum Genet 2018; Ware et al. JACC 2018. Zegri-Reiriz et al JACC 2018.
Lastly, it should be noted that the Unit has established a close relationship with the Centro Nacional de
Investigaciones Cardiovasculares (CNIC), where Dr García Pavía and some other members of the
team collaborate as visiting researchers. The unit works together with several
basic research groups on projects focused on new genetic causes of inherited heart disease and on RNA expression/regulation in heart failure. The H. Puerta de Hierro and the CNIC signed an official collaboration agreement in 2014, under which members of the Inherited Cardiac Diseases Unit (PI: Dr García-Pavía) and members of the molecular regulation of heart failure group at the CNIC (PI Dr Lara-Pezzi) can work interchangeably at both centres.
As a result of this important collaboration, a patent has been generated (P201530298) and
several relevant papers have been published: Luxan et al. Nature Medicine 2013; García-Pavía et al. Biomark Med 2013; Lara-Pezzi et al. J. Cardiovasc Trans Res 2013; López-Olañeta et al. Cardiovasc Res 2014; García-Pavía et al J Am Coll Cardiol 2014; González-Lopez et al. Eur Heart J 2015; Cuenca et al. J Heart Lung Transp 2016; Gallego-Delgado J Am Coll Cardiol 2016; Gómez-Salinero JM et al. Cell Chem Biol 2016; Villalba-Orero M et al. Cardiovasc Res 2017; Padrón-Barthe L et al. Basic Res Cardiol. 2017; Padrón-Barthe L et al. J Am Coll Cardiol. 2018. This collaboration has been essential for achieving the group's scientific development.
In summary, the group's priority research lines are:
1.- Genetic spectrum of familial cardiomyopathies.
2.- Interaction of genetic and environmental factors in the phenotypic expression of familial cardiac diseases.
3.- Hereditary and wild-type cardiac amyloidosis: genetic basis, diagnosis and treatment.
4.- Insuficiencia Cardiaca.
Scientific Production Indicators (2021 - 2025)
| Indicator | 2021 | 2022 | 2023 | 2024 | 2025 |
|---|---|---|---|---|---|
| Number of publications | 40 | 46 | 55 | 83 | 85 |
| Impact factor (IF) | 459,5 | 435,5 | 625,1 | 828,3 | 1.428,2 |
| D1 Publications | 15 | 13 | 16 | 39 | 47 |
| Q1 publications | 27 | 19 | 41 | 65 | 64 |
| Theses | 1 | 0 | 0 | 0 | 1 |
| Awards | 2 | 11 | 1 | 0 | 1 |
| Guides | 1 | 0 | 2 | 0 | 5 |
| IP in Competitive Public Projects | 11 | 8 | 7 | 6 | 10 |
| Collaboration in Competitive Public Projects | 0 | 0 | 0 | 0 | |
| IP in European Public Projects | 1 | 1 | 2 | 2 | 2 |
| Collaboration in European Public Projects | 0 | 0 | 0 | 0 | |
| European Public Projects Coordinator | 0 | 0 | 0 | 0 |
Researchers
| Full Name |
|---|
| Arriola Villalobos, Macarena |
| Briceño Hinojo, Ana |
| Cámara, Anabel |
| Cobo Marcos, Marta |
| De Castro Campos, Daniel |
| De la Iglesia Riera, María |
| Domínguez Rodríguez, Fernando |
| García Pavía, Pablo |
| Gómez Gaviro, María Victoria |
| González López, Esther |
| González Maniega, Clea |
| González Mirelis, Jesús |
| González Segovia, Ariadna |
| López García, Juan Carlos |
| Martínez Úbeda, Ana Isabel |
| Monforte Roscelli, Celia |
| Mora Ayestarán, Nerea |
| Ramos, Noemí |
| Ruiz Pérez, Mario |
| Sánchez Gismera, Paula |

