Canadian Cardiovascular Society 2009 Consensus …

1 Can J Cardiol Vol 26 No 3 March 2010e80 Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: Outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan s syndromeCandice K Silversides MD1, Marla Kiess (Section Editor) MD2, Luc Beauchesne MD3, Timothy Bradley MBChB4, Michael Connelly MBBS5, Koichiro Niwa MD6, Barbara Mulder MD7, Gary Webb MD8, Jack Colman MD9, Judith Therrien MD101 Toronto Congenital Cardiac Centre for Adults, University of Toronto, Toronto, Ontario; 2 Pacific Adult Congenital Heart Clinic, University of British Columbia, Vancouver, British Columbia; 3 Adult Congenital Heart Disease Clinic, University of Ottawa Heart Institute, Ottawa, Ontario; 4 The Hospital for Sick Children, University of Toronto, Toronto, Ontario; 5 Adult Congenital Heart Clinic, University of Calgary, Calgary, Alberta; 6 Chiba Cardiovascular Center, Ichihara, Japan; 7 Academic Medical Center, Amsterdam, The Netherlands; 8 The Cincinnati Adolescent and Adult Congenital Heart Disease Program, Cincinnati, Ohio, USA; 9 Toronto Congenital Cardiac Centre for Adults, University of Toronto, Toronto, Ontario; 10 McGill Adult Unit for Congenital Heart Disease Excellence, McGill University, Montreal, QuebecCorrespondence: Dr Candice K Silversides, Toronto General Hospital, 585 University Avenue, 5N-521 North Wing, Toronto, Ontario M5G 2N2.

2 Telephone 416-340-3146, fax 416-340-5014, e-mail for publication January 1, 2010. Accepted January 2, 2010 LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTIONPart l. Background informationThe present section concerns left ventricular outflow tract obstruction (LVOTO) in the setting of concordant atrioventricular and ventricu-loarterial connections. (Neither hypertrophic cardiomyopathy nor interrupted aortic arch will be considered here.)LVOTO can occur at several levels: Supravalvar LVOTO may occur rarely in isolation as an hourglass deformity. However, it is more often diffuse, involving the major arteries to varying degrees, and begins at the superior margin of the sinuses of Valsalva. The origin of the coronary arteries is usually proximal to the obstruction. Valvar LVOTO in the adult patient with congenital heart disease SpECial artiClE 2010 Pulsus Group Inc.

3 All rights reservedCK Silversides, M Kiess, L Beauchesne, et al. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: Outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan s syndrome. Can J Cardiol 2010;26(3) advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD.

4 Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part II of the guidelines includes recommendations for the care of patients with left ven-tricular outflow tract obstruction and bicuspid aortic valve disease, coarcta-tion of the aorta, right ventricular outflow tract obstruction, tetralogy of Fallot, Ebstein anomaly and Marfan s syndrome. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts that are published online in the present issue of The Canadian Journal of Cardiology.

5 The complete document and references can also be found at or Words: Adult congenital heart disease; Bicuspid aortic valve; Coarctation of the aorta; Congenital heart disease; Ebstein anomaly; Marfan s syndrome; Outflow tract obstruction; Tetralogy of FallotLa conf rence consensuelle 2009 de la Soci t canadienne de cardiologie sur la prise en charge des adultes ayant une cardiopathie cong nitale : L obstruction de la chambre de chasse, la coarctation de l aorte, la t tralogie de Fallot, la maladie d Ebstein et le syndrome de Marfan tant donn les progr s de la cardiologie p diatrique et de la chirurgie cardiaque, la population d adultes ayant une cardiopathie cong nitale (CPC) a augment . Il y a maintenant plus d adultes que d enfants ayant une CPC. Cette population a de nombreux probl mes et besoins uniques.

6 Depuis le rapport de la conf rence consensuelle 2001 de la Soci t canadienne de cardiologie sur la prise en charge des adultes ayant une CPC, on constate d importantes avanc es dans le domaine des CPC chez les adultes. Par cons quent, de nouvelles lignes directrices cliniques ont t r dig es par des m decins canadiens s occupant des CPC chez les adultes, en collaboration avec un groupe d experts internationaux dans le domaine. La partie II des lignes directrices contient des recommandations sur les soins aux patients ayant une obstruction de la chambre de chasse du ventricule gauche et une bicuspidie valvulaire aortique, une coarctation de l aorte, une obstruction de la chambre de chasse du ventricule droit, une t tralogie de Fallot, une maladie d Ebstein et un syndrome de Marfan.

7 Les sujets abord s incluent la g n tique, les issues cliniques, les bilans diagnostiques recommand s, les possibilit s chirurgicales et d intervention, le traitement des arythmies, l valuation des risques de la grossesse et de la contraception et les recommandations de suivi. Le document complet se compose de quatre manuscrits publi s par voie lectronique dans le pr sent num ro du Journal canadien de cardiologie. Le document complet et les r f rences figurent galement aux adresses et Outflow tract obstruction, tetralogy, Ebstein and Marfan s syndromeCan J Cardiol Vol 26 No 3 March 2010e81(CHD) is usually due to bicuspid aortic valve (BAV) (rheumatic and trileaflet calcific aortic stenosis are not discussed here). It usually occurs in isolation but is associated with other abnormalities, the most common being coarctation of the aorta, patent ductus arteriosis (PDA) or ascending aortopathy.

8 Subvalvar LVOTO is usually either a discrete fibromuscular ridge, which partially or completely encircles the left ventricular (LV) outflow tract, or is a long fibromuscular narrowing beneath the base of the aortic valve. Occasionally, there is a tunnel-like narrowing of the whole LV outflow tract, with a small aortic root. Rarely, abnormal insertion of the mitral valve or accessory mitral leaflet may cause significant concurrence of both LV inflow tract obstruction (including supravalvar mitral ring or parachute mitral valve) and LVOTO (including subvalvar LVOTO, BAV and aortic coarctation) is known as Shone s II. Prevalence and geneticsSupravalvar LVOTO is usually part of Williams syndrome, which is an autosomal dominant contiguous gene deletion syndrome. It is associ-ated with neurodevelopmental and multisystem manifestations, and is caused by a microdeletion on , which encompasses the elastin gene (1,2).

9 The incidence of Williams syndrome is estimated to be one in 10,000 births. It is characterized by cardiac defects, infantile hyper-calcemia, skeletal and renal anomalies, cognitive deficits, social per-sonality and elfin facies. It is readily detectable by fluorescence in situ hybridization (FISH) in 99% of cases. Familial supravalvar LVOTO may be associated with point mutations in the elastin gene in the absence of other features of Williams syndrome, or with the fetal rubella is the most common congenital cardiac anomaly, occurring in 1% to 2% of the population, with a male predominance (4:1 ratio). BAV is sometimes inherited as an autosomal dominant trait with vari-able penetrance. BAV may be associated with chromosome abnormali-ties, Noonan syndrome, Turner syndrome and Williams syndrome.

10 Aortic atresia can be associated with a deletion of 11q (Jacobsen syn-drome), Turner syndrome, trisomy 13, trisomy 18, or a deletion of 4p (Wolf-Hirschhorn syndrome).Subvalvar LVOTO also has a male predominance (2:1 ratio). In some instances, particularly in Shone s syndrome, the condition may be familial (3).Part III. History and management of unoperated patientsSupravalvar LVOTO is usually progressive in children, and aortic regurgitation is common. In Williams syndrome, there are often asso-ciated peripheral pulmonary artery or systemic arterial (including cor-onary ostial and renal artery) stenoses, which may worsen, resolve or remain unchanged. Systemic hypertension is LVOTO commonly progresses as the patient ages, but the rate is variable. Some patients with BAV will not experience any related problem, although there is a lifelong risk of endocarditis.