EDITORIAL
Adults with congenital heart disease: a growing population the number ofinfants born with a heart defect has remained iAlorldwide, VV
*constant over time at about 8 per 1000 live births (1:130). Survival of patients with congenital heart disease has dramatically improved since surgical repair became available three decades ago. Instead of a mortality of 85% during childhood following the natural course, over 85% of these infants are now expected to reach adulthood.'These successes have led to a new patient population consisting of adults with a surgically corrected heart defect. In the Netherlands the number of adults with congenital heart disease is estimated to be around 20,000 to 25,000. The prevalence of adults with congenital heart disease increases at a rate of 5% per year. Seventy-five percent of these adult patients have undergone palliative or corrective heart surgery in the past. Although the survival results are gratfying, cure is seldom achieved, and long-term complications occur frequently and may require indefinite follow-up.2'3 Exact data on long-term outcome ofpostoperative lesions in this population are not available because a national registry is lacking. In 1998 the 'Commissie Congenitale Cardiologie' consisting ofmembers ofthe Dutch Societies of Cardiology (NVVC), Paediatrics (NVK) and Thoracic Surgery (NVT), and the Netherlands Heart Foundation (NHS) published the report 'Cardiologische Zorg voor Patienten met aangeboren hartafwijkingen: van kind naar volwassenheid'. One of the recommendations ofthis report was the development of a national registry ofthese patients to increase and improve knowledge ofand experience in the care ofpatients with congenital heart disease.4 In 1998 the need for a national registry was also stressed by the Health Inspection in the report 'Hartchirurgie en cardiologie bij kinderen'.5 In the last few years the genetic aspects of congenital heart disease have increasingly become a field of interest for research.6 So far little is known about the genetic, molecular basis of congenital heart disease but more and more genes have been identified that play a role in the development ofthe heart. It has also become clear that the children ofpatients with congenital heart disease have a higher risk of congenital heart defects than children of normal individuals.7 These facts necessitate augmentation of genetic research in patients with congenital heart disease. In 2000, the Interuniversity Cardiology Institute of the Netherlands (ICIN) instigated a national registry and DNA-bank of adults with congenital heart disease, named CONCOR(CONgenital CORvitia). This project's aims are: to facilitate investigation oflong-term outcome ofspecific lesions and their treatment, to develop an efficient structure of organisa-tion for the improvement of health care for patients with congenital heart disease, and to allow investigation of the molecular basis of congenital heart defects.
At present, all eight academic medical centres in the Netherlands are participating in the CONCOR project. After informed consent has been obtained, clinical data ofpatients with congenital heart disease are collected using a web-based application. For each patient, all clinical events (diagnoses Nethiands Heart Journal, Volume 10, Number 9, September 2002
345
Editorial
Table 1. Most frequent main diagnoses. Number of Patients
Diagnoses
Tetralogy of Fallot Aortic coarctation Complete transposition of great arteries Aortic valvar stenosis - congenital Marfan syndrome Pulmonary valvar stenosis - congenital ASD secundum VSD (unspecified) AVSD with isolated atrial component (primum ASD) LV outflow tract obstruction due to subaortic fibromuscular shelf Congenitally corrected transposition of great arteries 25 Functionally univentricular heart Pulmonary atresia + VSD Ebstein's malformation of tricuspid valve Tricuspid atresia Perimembranous VSD
164 99 98 95 71 61 46 44 33 31
21 21 20 20 19
and interventions) are registered using the EPCC (European Paediatric Cardiac Code) coding scheme. Data are transferred via the Internet to the CONCOR server using a secure connection. Data are collected in accordance with the Netherlands Privacy Protection Laws using several Privacy Enhancing Technologies. Blood samples of participating patients are collected, and DNA is isolated and stored. Investigators who request data and DNA for a specific study have to follow a stringent procedure before data and DNA are delivered to the investigator. Participation of the paediatric cardiologists and non-academic hospitals will be pursued as soon as possible.
. 1200 c
-+- total l
XL 1000 :0 U.
800
E Z
600 400
200
0
May 02
April 02
June 02
Date
Figure 1. Progress of inclusion. 346
Netherlands Heart Journal, Volume
IO,
Number 9, September 2002
Editorial
I Ag. (years) 2. Age distribution. Age distribution. Figure 2.
Figure
The CONCOR project is supported by a grant from the ICIN and the Netherlands Heart Foundation. In this issue the CONCOR Project group reports the results of the first six months ofinclusion. These first results are very promising. More than 1000 patients have been included since the start ofthe project in January 2002. Almost every patient asked to participate in the CONCOR project has given his/her consent for both registration and participation in the DNA-bank (99% inclusion). At present, 75% of the patients are between 20 and 40 years of age. The entire population of adults with congenital heart disease in the Netherlands is steadily growing, with an estimated annual increase ofabout 1200 (former paediatric) patients per year. Registration and collection of DNA of patients with congenital heart disease is feasible and important to facilitate research on long-term outcome and to allow investigation ofthe molecular basis of congenital heart defects. Every two months an update on progress and results of inclusion will be published in this journal. For information and an update ofthe results the reader is invited to visit us at: www.CONCOR-net.
J. W.J. Vriend, research fellow Interuniversitair Cardiologisch
Instituut Nederland (ICIN). E. T. van der Velde, medical physicist, Leiden University Medical Centre, Leiden. B.J.M. Mulder, cardiologist, Academic Medical Centre, Amsterdam. Projectgroup B.J.M. Mulder MD PhD, cardiologist, Academic Medical Center, Amsterdam; E.T. van der Velde MSEE PhD, medical physicist, Leiden University Medical Center, Leiden; E. Theeuwes, research nurse ICIN; H.D.M. Murk Jansen, research nurse ICIN; J.W.J. Vriend MD, research fellow ICIN. -
-
-
-
-
-
Netherlands Heart Joumal, Voluime 10, Number 9, September 2002
347
Editorial
L ,W,m 1 ~
Rt§W g
'4~~~ ..3,-A
Steering Committee - B.J.M. Mulder MD PhD, cardiologist, Interuniversity Cardiology Institute of the Netherlands; - E.T. van der Velde MSEE PhD, medical physicist, Leiden University Medical Center, Leiden; - E.C.M. Mariman PhD, Functional Genomics, Academic Hospital Maastricht, Maastricht; - J.E. Speksnijder PhD, Netherlands Heart Foundation; - F.J. Meijboom MD PhD, pediatric cardiologist, Erasmus Medical Center, Rotterdam; - H.W. Vliegen MD PhD, cardiologist, Leiden University Medical Center, Leiden; - J.H. Romkes MD, cardiologist, Academic Medical Center, Amsterdam; - G. Veen MD PhD, cardiologist, Free University Medical Center, Amsterdam; - P.G. Pieper MD PhD, cardiologist, Academic Hospital Groningen, Groningen; - Sreeram MD PhD, pediatric cardiologist, University Medical Center, Utrecht; - G.J. van Mill MD, cardiologist, University Medical Center St. Radboud, Nijmegen; - J.L.M. Stappers MD PhD, cardiologist, Academic Hospital Maastricht, Maastricht; - J.G.P. Tijssen PhD, epidemiologist, Academic Medical Center, Amsterdam.
,jm 7
References
aem||.
1
2 3 4 fX
'lel'm's'#s u2 tgl! ~ ~ ~Ii
5 .
6 7
348
PerloffJK Congenital heart disease in adults. A new cardiovascular subspeciality. Circulation 1991;84:881-90. Kaplan S, PerloffJK Survival patterns after surgery or interventional catherisation. In: Perloff JK, Child JS (eds). Congenital Heart Disease in Adults. Philadelphia: WB Saunders Company, 1998:54. Stark J. Do we really correct congenital heart defects? JThorac Cardiovasc Surg 1989;97:1. Nederlandse Verenigingen voor Cardiologie, Kindergeneeskunde en Thoraxchinurgie en de Nederlandse Hartstichting. Cardiologische zorg voor patienten met een aangeboren hartafwijking: van kind naar volwassenheid. The Hague, 1998. Inspectie voor de Gezondheidszorg. Hartchirurgie en cardiologie bij kinderen. The Hague, October 1998. Perloff JK, Wanes CA. Challenges posed by adults with repaired congenital heart disease. Circulation 2001;103:2637-43. Burn J, Brennan P, Little J, et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998;351:311-6.
Netclands Heart Journal, Volumc 10, Number 9, September 2002
Adults with congenital heart disease: a growing population the number ofinfants born with a heart defect has remained iAlorldwide, VV
*constant over time at about 8 per 1000 live births (1:130). Survival of patients with congenital heart disease has dramatically improved since surgical repair became available three decades ago. Instead of a mortality of 85% during childhood following the natural course, over 85% of these infants are now expected to reach adulthood.'These successes have led to a new patient population consisting of adults with a surgically corrected heart defect. In the Netherlands the number of adults with congenital heart disease is estimated to be around 20,000 to 25,000. The prevalence of adults with congenital heart disease increases at a rate of 5% per year. Seventy-five percent of these adult patients have undergone palliative or corrective heart surgery in the past. Although the survival results are gratfying, cure is seldom achieved, and long-term complications occur frequently and may require indefinite follow-up.2'3 Exact data on long-term outcome ofpostoperative lesions in this population are not available because a national registry is lacking. In 1998 the 'Commissie Congenitale Cardiologie' consisting ofmembers ofthe Dutch Societies of Cardiology (NVVC), Paediatrics (NVK) and Thoracic Surgery (NVT), and the Netherlands Heart Foundation (NHS) published the report 'Cardiologische Zorg voor Patienten met aangeboren hartafwijkingen: van kind naar volwassenheid'. One of the recommendations ofthis report was the development of a national registry ofthese patients to increase and improve knowledge ofand experience in the care ofpatients with congenital heart disease.4 In 1998 the need for a national registry was also stressed by the Health Inspection in the report 'Hartchirurgie en cardiologie bij kinderen'.5 In the last few years the genetic aspects of congenital heart disease have increasingly become a field of interest for research.6 So far little is known about the genetic, molecular basis of congenital heart disease but more and more genes have been identified that play a role in the development ofthe heart. It has also become clear that the children ofpatients with congenital heart disease have a higher risk of congenital heart defects than children of normal individuals.7 These facts necessitate augmentation of genetic research in patients with congenital heart disease. In 2000, the Interuniversity Cardiology Institute of the Netherlands (ICIN) instigated a national registry and DNA-bank of adults with congenital heart disease, named CONCOR(CONgenital CORvitia). This project's aims are: to facilitate investigation oflong-term outcome ofspecific lesions and their treatment, to develop an efficient structure of organisa-tion for the improvement of health care for patients with congenital heart disease, and to allow investigation of the molecular basis of congenital heart defects.
At present, all eight academic medical centres in the Netherlands are participating in the CONCOR project. After informed consent has been obtained, clinical data ofpatients with congenital heart disease are collected using a web-based application. For each patient, all clinical events (diagnoses Nethiands Heart Journal, Volume 10, Number 9, September 2002
345
Editorial
Table 1. Most frequent main diagnoses. Number of Patients
Diagnoses
Tetralogy of Fallot Aortic coarctation Complete transposition of great arteries Aortic valvar stenosis - congenital Marfan syndrome Pulmonary valvar stenosis - congenital ASD secundum VSD (unspecified) AVSD with isolated atrial component (primum ASD) LV outflow tract obstruction due to subaortic fibromuscular shelf Congenitally corrected transposition of great arteries 25 Functionally univentricular heart Pulmonary atresia + VSD Ebstein's malformation of tricuspid valve Tricuspid atresia Perimembranous VSD
164 99 98 95 71 61 46 44 33 31
21 21 20 20 19
and interventions) are registered using the EPCC (European Paediatric Cardiac Code) coding scheme. Data are transferred via the Internet to the CONCOR server using a secure connection. Data are collected in accordance with the Netherlands Privacy Protection Laws using several Privacy Enhancing Technologies. Blood samples of participating patients are collected, and DNA is isolated and stored. Investigators who request data and DNA for a specific study have to follow a stringent procedure before data and DNA are delivered to the investigator. Participation of the paediatric cardiologists and non-academic hospitals will be pursued as soon as possible.
. 1200 c
-+- total l
XL 1000 :0 U.
800
E Z
600 400
200
0
May 02
April 02
June 02
Date
Figure 1. Progress of inclusion. 346
Netherlands Heart Journal, Volume
IO,
Number 9, September 2002
Editorial
I Ag. (years) 2. Age distribution. Age distribution. Figure 2.
Figure
The CONCOR project is supported by a grant from the ICIN and the Netherlands Heart Foundation. In this issue the CONCOR Project group reports the results of the first six months ofinclusion. These first results are very promising. More than 1000 patients have been included since the start ofthe project in January 2002. Almost every patient asked to participate in the CONCOR project has given his/her consent for both registration and participation in the DNA-bank (99% inclusion). At present, 75% of the patients are between 20 and 40 years of age. The entire population of adults with congenital heart disease in the Netherlands is steadily growing, with an estimated annual increase ofabout 1200 (former paediatric) patients per year. Registration and collection of DNA of patients with congenital heart disease is feasible and important to facilitate research on long-term outcome and to allow investigation ofthe molecular basis of congenital heart defects. Every two months an update on progress and results of inclusion will be published in this journal. For information and an update ofthe results the reader is invited to visit us at: www.CONCOR-net.
J. W.J. Vriend, research fellow Interuniversitair Cardiologisch
Instituut Nederland (ICIN). E. T. van der Velde, medical physicist, Leiden University Medical Centre, Leiden. B.J.M. Mulder, cardiologist, Academic Medical Centre, Amsterdam. Projectgroup B.J.M. Mulder MD PhD, cardiologist, Academic Medical Center, Amsterdam; E.T. van der Velde MSEE PhD, medical physicist, Leiden University Medical Center, Leiden; E. Theeuwes, research nurse ICIN; H.D.M. Murk Jansen, research nurse ICIN; J.W.J. Vriend MD, research fellow ICIN. -
-
-
-
-
-
Netherlands Heart Joumal, Voluime 10, Number 9, September 2002
347
Editorial
L ,W,m 1 ~
Rt§W g
'4~~~ ..3,-A
Steering Committee - B.J.M. Mulder MD PhD, cardiologist, Interuniversity Cardiology Institute of the Netherlands; - E.T. van der Velde MSEE PhD, medical physicist, Leiden University Medical Center, Leiden; - E.C.M. Mariman PhD, Functional Genomics, Academic Hospital Maastricht, Maastricht; - J.E. Speksnijder PhD, Netherlands Heart Foundation; - F.J. Meijboom MD PhD, pediatric cardiologist, Erasmus Medical Center, Rotterdam; - H.W. Vliegen MD PhD, cardiologist, Leiden University Medical Center, Leiden; - J.H. Romkes MD, cardiologist, Academic Medical Center, Amsterdam; - G. Veen MD PhD, cardiologist, Free University Medical Center, Amsterdam; - P.G. Pieper MD PhD, cardiologist, Academic Hospital Groningen, Groningen; - Sreeram MD PhD, pediatric cardiologist, University Medical Center, Utrecht; - G.J. van Mill MD, cardiologist, University Medical Center St. Radboud, Nijmegen; - J.L.M. Stappers MD PhD, cardiologist, Academic Hospital Maastricht, Maastricht; - J.G.P. Tijssen PhD, epidemiologist, Academic Medical Center, Amsterdam.
,jm 7
References
aem||.
1
2 3 4 fX
'lel'm's'#s u2 tgl! ~ ~ ~Ii
5 .
6 7
348
PerloffJK Congenital heart disease in adults. A new cardiovascular subspeciality. Circulation 1991;84:881-90. Kaplan S, PerloffJK Survival patterns after surgery or interventional catherisation. In: Perloff JK, Child JS (eds). Congenital Heart Disease in Adults. Philadelphia: WB Saunders Company, 1998:54. Stark J. Do we really correct congenital heart defects? JThorac Cardiovasc Surg 1989;97:1. Nederlandse Verenigingen voor Cardiologie, Kindergeneeskunde en Thoraxchinurgie en de Nederlandse Hartstichting. Cardiologische zorg voor patienten met een aangeboren hartafwijking: van kind naar volwassenheid. The Hague, 1998. Inspectie voor de Gezondheidszorg. Hartchirurgie en cardiologie bij kinderen. The Hague, October 1998. Perloff JK, Wanes CA. Challenges posed by adults with repaired congenital heart disease. Circulation 2001;103:2637-43. Burn J, Brennan P, Little J, et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998;351:311-6.
Netclands Heart Journal, Volumc 10, Number 9, September 2002
