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Heart Online First, published on October 9, 2014 as 10.1136/heartjnl-2012-301685 Education in Heart
CONGENITAL HEART DISEASE
Management of adults with cyanotic congenital heart disease Erwin Oechslin ▸ Additional references are published online only. To view please visit the journal online (http://dx.doi.org/10.1136/ heartjnl-2012-301685). Correspondence to Erwin Oechslin, Toronto Congenital Cardiac Centre for Adults, University of Toronto, Peter Munk Cardiac Centre, University Health Network/ Toronto General Hospital, 5 NUW—519, 585 University Ave, Toronto, ON M5G 2N2, Canada; [email protected]
Great advances in medicine, in particular surgical and interventional advances, for the treatment of cyanotic congenital heart disease (CCHD) and early detection of large septal defects, have turned cyanotic children into acyanotic survivors and revolutionised survival of these patients.w1–6 Persistence of cyanosis is the exception in patients with unrepaired or palliated CCHD (eg, tetralogy of Fallot, transposition complexes, double outlet right ventricle, univentricular hearts) or undetected septal defects with Eisenmenger physiology in western countries or in immigrants from countries where surgical repair of congenital heart disease (CHD) is not available or not affordable. Understanding the underlying anatomy, pathology and pathophysiology is fundamental for the optimal management of patients with CCHD to avoid errors and mistakes. Care for children with CCHD is the domain of paediatric cardiologists, who have to be fully integrated into a multidisciplinary team of experts caring for these cyanotic patients after their graduation from paediatric cardiology and after proper transition and transfer to adult care.w7 w8 This article addresses challenges in the management of cyanotic patients surviving into adulthood. Longevity of patients with CCHD is better than assumed, and survival into adulthood is not uncommon.1–3 w9 w10 The complication rate is usually low during the first 30 years, but complications and the attrition rate start in the third or fourth decades of their life. Complications and death can be triggered by inappropriate therapeutic measures. The most common mistakes and avoidable complications are based on poor appreciation of the complex pathophysiology of this heterogeneous population with a multisystem disorder, on misconceptions, and on translation of practice guidelines from patients with other disease to patients with CCHD. It is also essential to not miss therapeutic opportunities to improve the patient’s symptoms and quality of life and to improve outcomes. It can be a challenge to find the right balance between intervention and watchful waiting.
CCHD: A HETEROGENEOUS POPULATION
To cite: Oechslin E. Heart Published Online First: [please include Day Month Year] doi:10.1136/heartjnl2012-301685
Patients with CCHD encompass a very heterogeneous population which can be divided into two groups (box 1): (1) patients with restricted pulmonary blood flow; and (2) patients with pulmonary vascular disease secondary to a non-restrictive communication between the systemic and pulmonary circulation. This box, representing the most common types of CHD, illustrates the wide
Box 1 Heterogeneous population of patients with CCHD 1. Shunt with normal or restricted pulmonary blood flow A. Congenital defects with pulmonary outflow tract obstruction ▸ Tetralogy of Fallot ▸ Discordant ventriculo-arterial connection with d-transposition of the great arteries and pulmonary stenosis ▸ Discordant atrioventricular and ventriculo-arterial connection and transposition of the great arteries with VSD and pulmonary stenosis (congenitally corrected transposition of the great arteries) ▸ Pulmonary atresia with VSD or intact ventricular septum and aortopulmonary collateral vessels ▸ All forms of univentricular heart with pulmonary outflow tract obstruction ▸ Intrapulmonary arteriovenous malformations after a classic Glenn or bidirectional Glenn anastomosis B. Congenital defect without pulmonary outflow tract obstruction ▸ Ebstein anomaly with patent foramen ovale/secundum atrial septal defect 2. Pulmonary vascular disease secondary to a non-restrictive shunt A. ‘Simple’ CHD: ▸ Non-restrictive VSD ▸ Shunt at the atrial level (may not be the primary reason for CCHD, it may be a coincidence with genetic predisposition to pulmonary vascular disease) B. Complex CHD without pulmonary outflow tract obstruction: ▸ All forms of univentricular hearts without pulmonary outflow tract obstruction ▸ Congenitally corrected transposition of the great arteries with VSD ▸ Common arterial trunk 3. Aortopulmonary connections ▸ Patent ductus arteriosus ▸ Aortopulmonary window ▸ Major aortopulmonary collateral vessels ▸ Potts anastomosis/Waterston anastomosis CCHD, cyanotic congenital heart disease; CHD, congenital heart disease; VSD, ventricular septal defect.
E. Heart 2014;0:1–10. doi:10.1136/heartjnl-2012-301685 1 Copyright Article author (or theirOechslin employer) 2014. Produced by BMJ Publishing Group Ltd (& BCS) under licence.
Downloaded from heart.bmj.com on October 22, 2014 - Published by group.bmj.com
Education in Heart
Figure 1 A 51-year-old man with prior classic Glenn anastomosis at the age of 2 years and modified Fontan procedure (Bjork modification) at the age of 18 years. He underwent Fontan revision with conversion to a bidirectional Glenn anastomosis and replacement of the right atrium to right ventricle conduit at the age of 34 years. (A) Several, large intrapulmonary arteriovenous (AV) malformations in the right lung as long term complication of the classic Glenn and bidirectional Glenn anastomosis. Oxygen saturation was 87% and haemoglobin was 18 g/dL. (B) Five vascular plugs have been deployed to embolise and to occlude the AV malformations. (C) Catheter in the superior vena cava (SVC) and right pulmonary artery with selective angiography of the right pulmonary artery: the AV malformations are successfully occluded. Oxygen saturation increased from 87% to 91%. Courtesy of Dr Mark Osten, Toronto General Hospital, Ontario, Canada.
anatomic and pathophysiologic spectrum of patients with CCHD. The classical cyanotic patient with an Eisenmenger ventricular septal defect (VSD) and a pulmonary artery pressure/resistance at the systemic level represents one end of the spectrum, and the Fontan patient with a Glenn anastomosis, intrapulmonary arteriovenous malformations and shunt represents the other end of the spectrum of a patient with a normal pulmonary artery pressure (figure 1). There are many variations between these two extremes of the spectrum. Victor Eisenmenger first described the clinical and pathological presentation of irreversible pulmonary vascular disease,w11 but it was Paul Wood who elucidated the morbidity and mortality in his landmark paper.4 He defined the term ‘Eisenmenger syndrome’ as severe pulmonary hypertension with reversed or bidirectional shunt: “it matters very little where the shunt happens to be. The distinguishing feature is not anatomy but the physiologic behaviour of the pulmonary circulation”.4 Although there is a common approach to all patients with CCHD, each defect requires expertise to understand the underlying anatomy, pathophysiology and the specific therapeutic implications, with special attention to its specific pathophysiology. The key question remains whether or not pulmonary vascular disease and pulmonary arterial hypertension are present.
SURVIVAL AND PREVALENCE OF CCHD Advances in cardiovascular medicine have changed the demographics of the CHD population.w12–w14 Mortality and morbidity are shifting away from youth to adult patients.w1 w12 w14 A population based study from Quebec reported temporal trends in all-cause mortality and compared two observation periods (1987–1990 vs 2002–2005). The overall mortality rate decreased by 31% in the last observation period relative to the first observation period.w1 Reduction in mortality (67%) was mainly 2
observed in children with severe forms of CHD, which are a reflection of cyanosis before repair and include transposition of the great arteries (reduction in mortality 86%), univentricular hearts (79%), atrio-VSDs (63%), and tetralogy of Fallot (55%).w1 A gradual decrease in death rates in CCHD was also documented in a paediatric and adult population in the USA between 1979 and 2005, with a 71% decline in deaths in patients with transposition of the great arteries, and a 40% reduction in deaths in patients with tetralogy of Fallot.w15 In western countries, the number of adults with CCHD has decreased and will continue to do so due to diagnostic and therapeutic advances. The retrospective study design with its inherent limitations, selection bias (inclusion of patients from secondary or tertiary care centres), methodological limitations of the different studies, and the unknown number of patients lost to follow-up, among other drawbacks, limit information about survival data for the entire heterogeneous population of patients with CCHD and the prevalence of adults with CCHD. The Euro Heart Survey on Adult Congenital Heart Disease included 390 cyanotic patients (median age 27 years) who represented 9% of the entire study population; 60% of the cyanotic patients had Eisenmenger syndrome.w16 The high frequency of cyanotic patients in the Euro Heart Survey was driven by secondary and tertiary care centres (selection bias). Despite limitations, the CONCOR registry from the Netherlands better reflects the prevalence of Eisenmenger syndrome. In a cross-sectional study, the authors calculated the prevalence of pulmonary arterial hypertension in a random sample of patients at risk for this condition —that is, patients with systemic to pulmonary shunt (atrial septal defect, VSD, patent ductus arteriosus (PDA), atrio-VSD, univentricular hearts, aortopulmonary window, and total pulmonary venous connection).w17 The prevalence of Eisenmenger Oechslin E. Heart 2014;0:1–10. doi:10.1136/heartjnl-2012-301685
Downloaded from heart.bmj.com on October 22, 2014 - Published by group.bmj.com
Education in Heart syndrome was 2.8% in this random sample of patients at risk for pulmonary arterial hypertension, which represents 1.2% of the entire CHD population registered in the CONCOR database and confirms the previously reported prevalence.w17 w18 In the database of the Toronto Congenital Cardiac Centre of Adults, 1% of the actively followed patients (7500) are cyanotic; 66% of them have Eisenmenger physiology. Eisenmenger syndrome is the most common underlying pathophysiology of our cyanotic adults in the current era, and only a minority of cyanotic adults belongs to the group of patients with restricted pulmonary blood flow (box 1); some of these patients are not candidates for a Fontan repair, and others are immigrants with unrepaired or undiagnosed CCHD. Today, most cyanotic children with restricted pulmonary blood flow (and absent pulmonary vascular disease) undergo biventricular repair or are palliated with a Fontan (univentricular) repair in early life.
ASSESSMENT OF PATIENTS WITH CCHD True cyanosis is a sign; it describes the bluish discolouration of the skin and mucous membranes at rest and/or during exercise, and reflects an increased quantity of desaturated haemoglobin (haemoglobin >5 g/dL). The relative quantity of reduced (desaturated) haemoglobin is less important. Cyanosis can be missed in a patient with an oxygen saturation of 85% and a low haemoglobin (eg,
Heart Online First, published on October 9, 2014 as 10.1136/heartjnl-2012-301685 Education in Heart
CONGENITAL HEART DISEASE
Management of adults with cyanotic congenital heart disease Erwin Oechslin ▸ Additional references are published online only. To view please visit the journal online (http://dx.doi.org/10.1136/ heartjnl-2012-301685). Correspondence to Erwin Oechslin, Toronto Congenital Cardiac Centre for Adults, University of Toronto, Peter Munk Cardiac Centre, University Health Network/ Toronto General Hospital, 5 NUW—519, 585 University Ave, Toronto, ON M5G 2N2, Canada; [email protected]
Great advances in medicine, in particular surgical and interventional advances, for the treatment of cyanotic congenital heart disease (CCHD) and early detection of large septal defects, have turned cyanotic children into acyanotic survivors and revolutionised survival of these patients.w1–6 Persistence of cyanosis is the exception in patients with unrepaired or palliated CCHD (eg, tetralogy of Fallot, transposition complexes, double outlet right ventricle, univentricular hearts) or undetected septal defects with Eisenmenger physiology in western countries or in immigrants from countries where surgical repair of congenital heart disease (CHD) is not available or not affordable. Understanding the underlying anatomy, pathology and pathophysiology is fundamental for the optimal management of patients with CCHD to avoid errors and mistakes. Care for children with CCHD is the domain of paediatric cardiologists, who have to be fully integrated into a multidisciplinary team of experts caring for these cyanotic patients after their graduation from paediatric cardiology and after proper transition and transfer to adult care.w7 w8 This article addresses challenges in the management of cyanotic patients surviving into adulthood. Longevity of patients with CCHD is better than assumed, and survival into adulthood is not uncommon.1–3 w9 w10 The complication rate is usually low during the first 30 years, but complications and the attrition rate start in the third or fourth decades of their life. Complications and death can be triggered by inappropriate therapeutic measures. The most common mistakes and avoidable complications are based on poor appreciation of the complex pathophysiology of this heterogeneous population with a multisystem disorder, on misconceptions, and on translation of practice guidelines from patients with other disease to patients with CCHD. It is also essential to not miss therapeutic opportunities to improve the patient’s symptoms and quality of life and to improve outcomes. It can be a challenge to find the right balance between intervention and watchful waiting.
CCHD: A HETEROGENEOUS POPULATION
To cite: Oechslin E. Heart Published Online First: [please include Day Month Year] doi:10.1136/heartjnl2012-301685
Patients with CCHD encompass a very heterogeneous population which can be divided into two groups (box 1): (1) patients with restricted pulmonary blood flow; and (2) patients with pulmonary vascular disease secondary to a non-restrictive communication between the systemic and pulmonary circulation. This box, representing the most common types of CHD, illustrates the wide
Box 1 Heterogeneous population of patients with CCHD 1. Shunt with normal or restricted pulmonary blood flow A. Congenital defects with pulmonary outflow tract obstruction ▸ Tetralogy of Fallot ▸ Discordant ventriculo-arterial connection with d-transposition of the great arteries and pulmonary stenosis ▸ Discordant atrioventricular and ventriculo-arterial connection and transposition of the great arteries with VSD and pulmonary stenosis (congenitally corrected transposition of the great arteries) ▸ Pulmonary atresia with VSD or intact ventricular septum and aortopulmonary collateral vessels ▸ All forms of univentricular heart with pulmonary outflow tract obstruction ▸ Intrapulmonary arteriovenous malformations after a classic Glenn or bidirectional Glenn anastomosis B. Congenital defect without pulmonary outflow tract obstruction ▸ Ebstein anomaly with patent foramen ovale/secundum atrial septal defect 2. Pulmonary vascular disease secondary to a non-restrictive shunt A. ‘Simple’ CHD: ▸ Non-restrictive VSD ▸ Shunt at the atrial level (may not be the primary reason for CCHD, it may be a coincidence with genetic predisposition to pulmonary vascular disease) B. Complex CHD without pulmonary outflow tract obstruction: ▸ All forms of univentricular hearts without pulmonary outflow tract obstruction ▸ Congenitally corrected transposition of the great arteries with VSD ▸ Common arterial trunk 3. Aortopulmonary connections ▸ Patent ductus arteriosus ▸ Aortopulmonary window ▸ Major aortopulmonary collateral vessels ▸ Potts anastomosis/Waterston anastomosis CCHD, cyanotic congenital heart disease; CHD, congenital heart disease; VSD, ventricular septal defect.
E. Heart 2014;0:1–10. doi:10.1136/heartjnl-2012-301685 1 Copyright Article author (or theirOechslin employer) 2014. Produced by BMJ Publishing Group Ltd (& BCS) under licence.
Downloaded from heart.bmj.com on October 22, 2014 - Published by group.bmj.com
Education in Heart
Figure 1 A 51-year-old man with prior classic Glenn anastomosis at the age of 2 years and modified Fontan procedure (Bjork modification) at the age of 18 years. He underwent Fontan revision with conversion to a bidirectional Glenn anastomosis and replacement of the right atrium to right ventricle conduit at the age of 34 years. (A) Several, large intrapulmonary arteriovenous (AV) malformations in the right lung as long term complication of the classic Glenn and bidirectional Glenn anastomosis. Oxygen saturation was 87% and haemoglobin was 18 g/dL. (B) Five vascular plugs have been deployed to embolise and to occlude the AV malformations. (C) Catheter in the superior vena cava (SVC) and right pulmonary artery with selective angiography of the right pulmonary artery: the AV malformations are successfully occluded. Oxygen saturation increased from 87% to 91%. Courtesy of Dr Mark Osten, Toronto General Hospital, Ontario, Canada.
anatomic and pathophysiologic spectrum of patients with CCHD. The classical cyanotic patient with an Eisenmenger ventricular septal defect (VSD) and a pulmonary artery pressure/resistance at the systemic level represents one end of the spectrum, and the Fontan patient with a Glenn anastomosis, intrapulmonary arteriovenous malformations and shunt represents the other end of the spectrum of a patient with a normal pulmonary artery pressure (figure 1). There are many variations between these two extremes of the spectrum. Victor Eisenmenger first described the clinical and pathological presentation of irreversible pulmonary vascular disease,w11 but it was Paul Wood who elucidated the morbidity and mortality in his landmark paper.4 He defined the term ‘Eisenmenger syndrome’ as severe pulmonary hypertension with reversed or bidirectional shunt: “it matters very little where the shunt happens to be. The distinguishing feature is not anatomy but the physiologic behaviour of the pulmonary circulation”.4 Although there is a common approach to all patients with CCHD, each defect requires expertise to understand the underlying anatomy, pathophysiology and the specific therapeutic implications, with special attention to its specific pathophysiology. The key question remains whether or not pulmonary vascular disease and pulmonary arterial hypertension are present.
SURVIVAL AND PREVALENCE OF CCHD Advances in cardiovascular medicine have changed the demographics of the CHD population.w12–w14 Mortality and morbidity are shifting away from youth to adult patients.w1 w12 w14 A population based study from Quebec reported temporal trends in all-cause mortality and compared two observation periods (1987–1990 vs 2002–2005). The overall mortality rate decreased by 31% in the last observation period relative to the first observation period.w1 Reduction in mortality (67%) was mainly 2
observed in children with severe forms of CHD, which are a reflection of cyanosis before repair and include transposition of the great arteries (reduction in mortality 86%), univentricular hearts (79%), atrio-VSDs (63%), and tetralogy of Fallot (55%).w1 A gradual decrease in death rates in CCHD was also documented in a paediatric and adult population in the USA between 1979 and 2005, with a 71% decline in deaths in patients with transposition of the great arteries, and a 40% reduction in deaths in patients with tetralogy of Fallot.w15 In western countries, the number of adults with CCHD has decreased and will continue to do so due to diagnostic and therapeutic advances. The retrospective study design with its inherent limitations, selection bias (inclusion of patients from secondary or tertiary care centres), methodological limitations of the different studies, and the unknown number of patients lost to follow-up, among other drawbacks, limit information about survival data for the entire heterogeneous population of patients with CCHD and the prevalence of adults with CCHD. The Euro Heart Survey on Adult Congenital Heart Disease included 390 cyanotic patients (median age 27 years) who represented 9% of the entire study population; 60% of the cyanotic patients had Eisenmenger syndrome.w16 The high frequency of cyanotic patients in the Euro Heart Survey was driven by secondary and tertiary care centres (selection bias). Despite limitations, the CONCOR registry from the Netherlands better reflects the prevalence of Eisenmenger syndrome. In a cross-sectional study, the authors calculated the prevalence of pulmonary arterial hypertension in a random sample of patients at risk for this condition —that is, patients with systemic to pulmonary shunt (atrial septal defect, VSD, patent ductus arteriosus (PDA), atrio-VSD, univentricular hearts, aortopulmonary window, and total pulmonary venous connection).w17 The prevalence of Eisenmenger Oechslin E. Heart 2014;0:1–10. doi:10.1136/heartjnl-2012-301685
Downloaded from heart.bmj.com on October 22, 2014 - Published by group.bmj.com
Education in Heart syndrome was 2.8% in this random sample of patients at risk for pulmonary arterial hypertension, which represents 1.2% of the entire CHD population registered in the CONCOR database and confirms the previously reported prevalence.w17 w18 In the database of the Toronto Congenital Cardiac Centre of Adults, 1% of the actively followed patients (7500) are cyanotic; 66% of them have Eisenmenger physiology. Eisenmenger syndrome is the most common underlying pathophysiology of our cyanotic adults in the current era, and only a minority of cyanotic adults belongs to the group of patients with restricted pulmonary blood flow (box 1); some of these patients are not candidates for a Fontan repair, and others are immigrants with unrepaired or undiagnosed CCHD. Today, most cyanotic children with restricted pulmonary blood flow (and absent pulmonary vascular disease) undergo biventricular repair or are palliated with a Fontan (univentricular) repair in early life.
ASSESSMENT OF PATIENTS WITH CCHD True cyanosis is a sign; it describes the bluish discolouration of the skin and mucous membranes at rest and/or during exercise, and reflects an increased quantity of desaturated haemoglobin (haemoglobin >5 g/dL). The relative quantity of reduced (desaturated) haemoglobin is less important. Cyanosis can be missed in a patient with an oxygen saturation of 85% and a low haemoglobin (eg,
