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![RETOS Y OPORTUNIDADES EN MEDICINA CARDIOVASCULAR
“RAZONES DE INTERES”
Necesidades y recursos de la Cardiología en España Ministerio de Sanidad Sociedad Española de
Cardiología 1999
Plan estratégico de la Sociedad Española de de Cardiología SEC 2000
Ponencia de Sanidad Galicia 2010
Plan Integral de Cardiopatía Isquemica Ministerio de Sanidad y C. Y CISNS Ministerio Sanidad 30
de junio 2003
Estrategia Cardiopatia Isquemica Ministerio de Sanidad y CISNS 2005
Revista criterios 2008
The scope of cardiological competence in the new clinical settings. Spanish Society of Cardiology
consensus document Rev Esp Cardiol. 2008 Feb
Imbalance between the supply and demand for cardiologists in Spain. Analysis of the current
situation, future prospects, and possible solutions] Rev Esp Cardiol. 2006 Jul;
Cardiovascular disease nature insight V 451 Nº 7181 february 2008
Red Temática de Investigación Cooperativa en Enfermedades Cardiovasculares (RECAVA)
David García-Dorado, Alfonso Castro-Beiras, Javier Díez, Rafael Gabriel, Juan R Gimeno-Blanes, Manuel Ortiz de
Landázuri, Pedro L Sánchez y Francisco Fernández-Avilés.
Rev Esp Cardiol 2008; 61: 58 - 65
European conference on the future of cardiology Madrid junio 2-3 2006
WWW.HealtinCode.org
WWW.cardioatrio.com
WWW.nature.com/naturemedicine](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-2-320.jpg)
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![Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-27-320.jpg)
![Agenda
1.- Who we are
2.- What we do
3.- What we offer
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-28-320.jpg)
![Who we are
- A Company working in genetic diagnosis of
cardiovascular diseases.
- A Company that has developed an integrated
system for managing clinical and genetic
information.
- A Company with a multidisciplinary approach
for bridging the gap between genetics and clinics
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-29-320.jpg)
![We are experts in cardiovascular
diseases and genetics:
-We have a clinic where we follow up
more than 800 families with heritable
cardiomyopathies
-We have genotyped more than 1200
index cases for more than 15 genes
related to cardiovascular diseases from
different centers across Europe
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-30-320.jpg)
![Cardiomyophaties
HCM
MCD
DAVD LVNC
Hemocromatosis Amiloidosis
MCR
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-31-320.jpg)
![Heterogeneity:
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-32-320.jpg)
![>700 different sarcomeric mutations associated
with cardiomyopathies (HCM, DCM, RCM)
ARE ALL OF THEM THE SAME DISEASE?
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-33-320.jpg)
![Influence of HCM Genotype on Survival
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-34-320.jpg)
![PROBLEMS FOR THE APPLICATION OF GENETIC
KNOWLEDGE IN DAILY PRACTICE:
• How to access genetic testing in a
routine basis (Do it yourself?)
• How to mantain a genetic laboratory
and make it efficient and sustainable
• Need for a systematic approach for the
managment of the knowledge about the
functional and clinical consequences of
the different genetic variants
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-35-320.jpg)
![Some attemps
-Cardiogenomics:
-Angis:
Australian National Genomic
Information Service (ANGIS).
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-36-320.jpg)
![Their limitations
-Limited information: no detailed information
-Lack of continuous update
-Not useful for clinical decisions
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-37-320.jpg)
![• We created a Spin-Off:
-Genetic diagnosis in cardiovascular diseases
-Cardiovascular genetics knowledge managment
http://www.healthincode.com
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-38-320.jpg)
![[ What we do]
- We have created a data base where:
1.-Our professionals continuously search and assemble all
the published information about mutations related to inherited
cardiovascular diseases
2.-We include information about non-published mutations
3.-We include population information and mutations
from other European research groups collaborating with us
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-39-320.jpg)
![[ What we do]
-We have developed a system that automatically
generates reports for any mutation in the data base that
includes all the clinical and genetic information
-Our professionals continuously update the data base
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-40-320.jpg)
![CLINICAL AND BASIC INFORMATION MANAGMENT SYSTEM
Documentalists get documents from databases,
RECOVERY publications and congresses and give them to
Documentalists the scientific commitee
FILTERING Evaluation and indexation of the articles. Select
Scientific com. appropriate analist. Quality control of the
DISTRIBUTION documentalists and analists work
Critical and analytical lecture of the documents.
ANALITYC LECTURE Expert 1 E2 E3 En Introduction of the data in the database.
Evaluation of the information quality.
DATA GATHERING
Gathers information provided by the analists. The
DATABASE supervisors control the quality (second lecture).
ANALYSIS AND
INTERPRETATION
Meta-analysis of the information about each
Scientif. Com. mutation
Provides all the relevant clinical and basic
REPORT research data about the genetic variants, including
FINAL REPORT both a detailed report and a summary prepared by
our experts
FEEDBACK
FEEDBAK Offers the possibilitie to reinterpret
the clinical implications of the
CLINICIAN mutation in a particular case if
clinical details of the carrier are
provided
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-41-320.jpg)
![Tabla 2: Características clínicas y genéticas de los portadores de la mutación sin eventos
adversos reportados:
ID FAM Mut Otra DX Sex Edad Edad último NYHA HF HVI (Grosor TV- Síncope Obst. (grad) Disfunción
mut dx seguim. MS máx) FV sistólica (EF)
4 5 + No HCM M 47 50 - (I) - ? ? - ? ?
5 4 + No HCM? F 21 22 - (I) - - ? - - -
6 9 + No HCM F 50 60 + (II) - + (17) ? - - + (37)
7 4 + No HCM M 51 52 - (I) - + (17) ? - - - (65)
8 6 + No HCM F 43 44 + (II) + + (25) ? - + (92) - (78)
9 3 + No HCM F 60 71 + (II) + + (15) ? - - - (61)
10 4 + No HCM M 33 60 ? ? + (22) ? ? - - (63)
11 8 + No - F - 41 - (I) - - (10) ? - - - (73)
12 4 + No - M 16 17 - (I) - - ? - ? -
13 8 + Sí HCM F 60 62 + (II) - + (27) ? - - - (62)
14 4 + No - F 21 22 - (I) - - (9) ? - - - (79)
15 8 + Sí HCM M 21 39 + (II) - + (30) [1] + - - (69)
16 4 + No HCM M 16 25 + (II) - + (33) [1] + + (42) - (94)
17 7 + No HCM ? - - ? ? + ? ? ? ?
18 2 + No HCM M - 53 ? ? + (20) ? ? - -](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-49-320.jpg)
![2.- Información clínica disponible:
La mutación se ha asociado con el desarrollo de miocardiopatía hipertrófica. 9 families
La mutación K600fs en el gen MyBPC3 ha sido descrita previamente en 1 artículo/s-
comunicación/es [2]. Disponemos de datos clínicos adicionales de 8 familias con esta
mutación. 18 carriers (14
La mutación ha sido descrita en 9 familias. Hay información disponible acerca de 18 portadores
de la mutación (14 con MCH, 3 sanos, 1 sin estudio fenotípico), 15 no portadores (1 MCH, 3 affected)
sanos, 3 sin estudio fenotípico) y 72 familiares sin estudio genético (8 MCH, 2 muertes súbitas
de causa desconocida, 1 MCH + miocardiopatía dilatada, 6 sanos, 55 sin estudio fenotípico).
15 not carriers (1
Los datos disponibles sugieren una penetrancia del 90% en mayores de 30 años (tablas 1 y 2).
La mutación muestra asociación con la enfermedad (cosegregación) en diferentes familias,
affected)
pero hay uno de los quince familiares con estudio genético negativo que presenta MCH (familia
8, en la que hay antecedentes de consanguinidad). Se han reportado más de 200 controles
sanos negativos para la mutación. No tenemos datos sobre modelos animales o estudios
funcionales sobre la mutación.
Penetrance>90%
El grosor parietal medio es de 20 mm, 2 casos presentaron grosor>30 mm (uno de ellos con older than 30y
una mutación adicional). Cuatro casos presentaban obstrucción subaórtica dinámica y 2 de
ellos tuvieron accidentes cerebrovasculares (jóvenes). La mayor parte de los portadores
estaban en clase funcional II de la NYHA. La dilatación de la aurícula izquierda (diámetro medio
48 mm) y el desarrollo de fibrilación auricular precoz fueron complicaciones frecuentes. Muchos Cosegregation
de los pacientes con MCH y fibrilación auricular habían practicado deporte a nivel competitivo.
200 controls
3.- Eventos:
Los eventos reportados en las 9 familias son: 5 muertes de causa desconocida (5 sin estudio Sport
genético); 1 muerte relacionada con otras causas cardiovasculares (1 sin estudio genético); 3
muertes relacionadas con accidentes cerebrovasculares (1 con la mutación, 2 sin estudio
genético); 1 muerte de causa no cardiovascular (1 sin estudio genético); 2 accidentes
cerebrovasculares (sin muerte) (2 con la mutación); 1 trasplante cardíaco (1 sin estudio Atrial dilatation and
AF
genético); 2 muertes súbitas (2 sin estudio genético). (Ver tablas)
Los eventos en portadores fueron 3/18, los tres fueron accidentes cerebrovasculares (2
menores de 55 años). En 72 familiares sin estudio genético se recogieron antecedentes de
muerte súbita en 2, un trasplante cardíaco y 2 accidentes cerebrovasculares. Estos datos
sugieren que las complicaciones asociadas con esta mutación son fundamentalmente ligadas
al desarrollo de fibrilación auricular y eventos embólicos.
5 strokes](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-50-320.jpg)
![[Our customers ]
-We do genetic analysis in cardiomyopathies and
channelopathies for:
-More than 20 public and private hospitals in Spain
-The Heart Hospital, University College, London, UK
- The Hipokration Hospital. Athens University, Greece
USA
Japan
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-51-320.jpg)
![[Genetic testing]
-We have quality certifications:
ISO 9000 and ISO 14000
-We are an authorized lab for genetic diagnosis
fulfilling
the requirements of the Spanish Government
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-52-320.jpg)
![[Our Research Network]
-Professor WJ Mckenna (partner and Shareholder of HIC)
-Spanish cardiovascular research Network (RECAVA): more than
50 cardiovascular basic and clinic research groups in Spain. We
are coordinators of the inherited cardiovascular diseases program.
-Spanish Working Group on Inherited Cardiovascular Diseases
-European Working Group on Myocardial and Pericardial Diseases
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-53-320.jpg)
![[Our technological partners]
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-54-320.jpg)
![[Our Datacenter]
Servers HP High availability guaranteed through
ProLiant Family built in redundancy on HW, SW and Telco
lines, UPS and AC units, Fire control,
Diesel powered Generator.
Network built on CISCO Switches & Routers LAN, WAN, Internet ,VPN
Redundant Internet connection 25Mbit/s
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-55-320.jpg)
![[Our Security & IT Support]
• Access to Server room controlled by swipe cards, only authorized staff
• Corporate antivirus (ESET NOD32)
• Security Update Service
• System Management Server
• Email filtering and Spam control
• Account and password Security
• Logical access control authentication
• Group & User policies
• Firewall and routers managed by Network Engineering (24/7)
• WAN support (24/7)
• In situ Helpdesk support
• In situ Telephony support
• BCP & DRP programs in place
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-56-320.jpg)
![[Our Security & IT Support]
-Security and back ups (twice a day in two
physically separate locations in Spain
-Internal and external auditories
for software and hardware
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-57-320.jpg)
![[What we offer]
Individual reports including all the clinical information
for mutations in the genes:
MYH7 LMNA A/C GLA
MyBPC3 ACTC PRKAG2
TNNT2 G 4.5
TNNI3 LDB3
TNNC1
TPM
MYL2
MYL3
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-59-320.jpg)
![[What we offer]
Upon request we provide reports
about mutation related information for
PKP2 KCNQ1 RyR2
DSG2 KCNH2 LAMP2
DSC2 KCNE1 MYLK2
DSP KCNE2 PLN
KCNJ2 TCAP
SCN5A TTN
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-60-320.jpg)
![2000 individuals
HCM = 1/500
BEFORE
= 4 ??
Symptoms / Clinical tests
CLINICAL
DIAGNOSIS
NOW HCM
Genetic M1 M2 M3 …700 different Silent carrier
diagnosis mutations
Relative of a carrier
HCM1 HCM2 HCM3 Individualized
medicine
Medical Prognosis 1 Prognosis 2 Prognosis 3
knowledge Treatment 1 Treatment 2 Treatment 3
managment Risk 1 Risk 2 Risk 3
CLINICAL APPLICATION
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-61-320.jpg)
![Products
Services Products
Genetic diagnosis Knowledge managment
Sequencing Clinical reports Knowledge
management
tools
HCM (1/500) All the
DCM (1/3000) pathologies Genotype-phenotype
LVNC (1/2000) databases
ARVC (6/10000)
LQT (1/5000)
BS(1/500)
Health [in] Code](https://image.slidesharecdn.com/innovaciontecnoligayhospital-090706095724-phpapp02/85/Innovacion-Tecnoliga-Y-Hospital-62-320.jpg)
Saltar al contenido principal
Innovacion Tecnoliga Y Hospital
Este documento trata sobre innovación tecnológica y liderazgo médico en los hospitales. Brevemente: 1) Se discuten los desafíos y oportunidades que presentan los avances tecnológicos como la eSalud y la web 3.0 para la innovación en los hospitales. 2) También se mencionan varios proyectos de investigación en cardiología llevados a cabo en hospitales españoles. 3) Finalmente, se resalta la importancia de la investigación clínica realizada en los hospitales y su potencial
