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End-of-life care in adults with congenital heart disease: now is the time to act

Bowater, Sarah E.; Speakman, John K.; Thorne, Sara A.

Current Opinion in Supportive and Palliative Care: March 2013 - Volume 7 - Issue 1 - p 8–13
doi: 10.1097/SPC.0b013e32835c0707

Purpose of review There are increasing numbers of adults with congenital heart disease (CHD) and these patients remain at long-term risk of complications and premature death. This review focuses on the changing picture of adult CHD with more complex patients surviving, the challenges of balancing life-prolonging intervention, the barriers to discussing the end-of-life (EOL) issues and draws on the experience of other specialities in managing young patients.

Recent findings The prevalence of adults with the most severe forms of CHD has increased, especially those with a Fontan circulation. The eventual decline is inevitable with limited treatment options. There should be a parallel palliative care approach in patients who are being considered for high-risk, life-prolonging interventions. Oncologists caring for the young patients with cancer and cystic fibrosis specialists have demonstrated the unique needs of young patients with chronic diseases that may be applicable to adult CHD patients and help with their EOL planning.

Summary These patients require an early and proactive approach to EOL discussions, and the unique needs of young patients should be recognized. Further research is needed to develop local and national guidelines for the palliative care approach in these patients.

Department of Cardiology, Queen Elizabeth Hospital NHS Foundation Trust, Birmingham, UK

Correspondence to Sarah E. Bowater, Department of Cardiology, Queen Elizabeth Hospital, Edgbaston, Birmingham, B15 2TH, UK. Tel: +44 121 3714495; fax: +44 121 3714496; e-mail:

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Congenital heart disease (CHD) is the most common form of major birth defect affecting around 1% of newborns [1]. Because of the advances in paediatric cardiology and cardiac surgery, survival into adulthood has significantly improved. In the 1950s, infant mortality from CHD was around 70% [2]. This contrasts to a recent study demonstrating a survival to adulthood of almost 90% in patients born with a cardiac lesion between 1990 and 1992 [3]. This increased survival, along with a declining mortality rate in these survivors [4▪▪], has led to a big increase in the prevalence of adult CHD (ACHD) and there are now more adults than children affected in the UK [1,5,6].

These patients remain at lifetime risk of sequelae including arrhythmias, thromboembolic disease, need for further surgery, ventricular failure, pulmonary hypertension and premature death [6]. Despite this, the age of death has shifted from infancy to adulthood [7]. Afilalo et al.[8] have shown that there is also now a substantial prevalence of ACHD in the older population, although severe forms are uncommon. Thus, these patients can now live long enough to acquire significant medical comorbidities.

A previous review by Tobler et al. discussed the changing mortality and mode of death in these patients and the emerging role of palliative care plus the lessons to be learned from acquired heart failure. The purpose of this review is to examine the changing picture of ACHD and the likely scenarios we will face in our future practice, the need to balance the inevitable decline in a young patient with the potential benefits of a high-risk life-prolonging intervention and the barriers to discussing end-of-life (EOL) matters with these patients.

Box 1

Box 1

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Because of improved life-expectancy, there are an increasing number of adults with the more severe forms of CHD. Marelli et al.[1] examined the records of all patients in Quebec, Canada with a diagnosis of CHD from 1985 to 2000. They found that the prevalence of severe CHD in adults increased by 85% over this time compared to a rise of just 22% in the paediatric population; there are now similar numbers of adults and children alive with complex lesions. The presence of severe CHD was found to be a predictor of mortality in the Dutch CONCOR national registry [9] and life expectancy is well below that of the general population [10]. This increase in survivors with complex CHD will be associated with an increase in long-term complications and a need for palliative care.

The group of adults whose numbers are increasing most dramatically are those who underwent Fontan and Norwood operations in early life. The Fontan operation is performed for patients with an anatomical or functional single-ventricular circulation, for example, tricuspid atresia and double-inlet left ventricle. It was designed to provide blood flow to the pulmonary and systemic circulations without the need for a right ventricular pump (Fig. 1). It is now the most common cardiac operation performed in infants over 2 years [11] and with surgical modifications outcome has improved. A recent study from Japan looked at the mortality in 405 consecutive patients after a Fontan between 1979 and 2010 and found a 15-year mortality of 81.6% [12]. Khairy et al. studied 261 patients born before 1985, thus more accurately reflecting our older adult population, and demonstrated a 70% actuarial freedom from all-cause death and transplantation at 25 years [13▪]. Although the early and medium term prognosis have improved, the long-term prognosis is still unclear with significant long-term sequelae including arrhythmias, heart failure, progressive hypoxaemia, thromboemboli, hepatic dysfunction and protein-losing enteropathy, a condition associated with a poor outcome. Death is because of cardiovascular causes in 82%.



Giannico et al. examined the functional status of children with a Fontan and found that 77% were in New York Heart Association (NYHA) I and just 3% in NYHA III [14]. However, the adult population becomes increasingly symptomatic with 17% of all adult Fontan patients being in NYHA III or IV in the Euro Heart survey [15]. The median follow-up in this study, however, was just 5 years and it is likely that the proportion of symptomatic patients will continue to increase with time from surgery.

An ‘extreme subset’ of the Fontan patients are those with hypoplastic left heart syndrome (HLHS) who have undergone the Norwood procedure, a series of operations resulting in a Fontan circulation, reimplanted coronary arteries with low coronary flow reserve and a systemic right ventricle [16]. Around 70% of these patients are now expected to reach adulthood [17], but there are no long-term data regarding their functional status. The Norwood operation has only been performed since the early 1980s and so the early recipients are only now reaching adult clinics.

Late complications associated with a Fontan circulation present an ongoing challenge in their management. The eventual failure of the Fontan circulation is inevitable and is a situation that clinicians working in ACHD dread. Medical options are limited and, whilst they can slow down its progression, do not halt the decline [18▪▪]. Some patients may be suitable for further surgery; however, surgical options carry significant risk [19]. The only definitive treatment for a failed Fontan circulation is cardiac transplantation [20].

These patients have lived with a suboptimal circulation all of their life and adapt their lifestyle as required. Thus, symptoms of a progressive decline in functional status may not manifest themselves until advanced. This highlights the need for a proactive and early approach to EOL discussions to allow these young patients to make a fully informed decision regarding future treatment options.

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Heart or heart–lung transplantation is the only definitive treatment for many complex ACHD patients. However, transplantation in ACHD is complicated because of multiple previous operations, increased sensitization rates and complex venous anatomy [20].

Cardiac transplants for CHD account for just 2% of all transplants [21▪] and these patients are less likely to receive a transplant after listing than those with acquired heart disease [22]. Studies show that they experience longer waiting time, longer intraoperative ischaemic times with higher 30-day mortality [21▪,22,23▪]. However, their long-term survival appears to be as good as non-CHD patients. Karamlou et al. have examined the impact of single-ventricle physiology after transplantation compared with two ventricle abnormalities and found that this group had a significantly higher mortality [24]. This poorer outcome should be considered when assessing these patients for potential transplantation.

Ventricular assist devices (VADs) are used to support the circulation of patients with end-stage heart failure. Initially, they were solely used as a bridge to transplantation, but may also be used as destination therapy in patients unsuitable for transplantation. Conventional pumps are unsuitable for most forms of complex CHD, but new ones specifically for the Fontan circulation are in development [25].

As in transplantation, assessment for life-prolonging treatments, such as VADs, should ideally be done in parallel to palliative care. In 2011, Swetz et al.[26▪▪] assessed the benefits of proactive palliative care prior to the implantation of VADs in acquired heart failure patients and found that this led to clearer postoperative care and complications were managed more effectively. This simultaneous assessment for life-prolonging treatment and palliative care, however, may initially be conflicting and unwelcome to the patient. Furthermore, primary care providers may find it conflicting that these patients are on EOL registers, such as the Gold Standard Framework commonly used in the UK and the transplant list simultaneously.

Although the option of future transplant or other life-prolonging intervention for a particular patient may be clearly unsuitable to us as the healthcare providers, we must recognize that the patient may have clear expectations of their future care options. Increasing use of the internet to obtain medical information, especially in young people, allows information regarding new and future treatments to be readily accessible [27,28]. This may make the idea of palliative care initially unwelcome.

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In the recently published data from the Dutch CONCOR registry, death from heart failure occurred in 26% of adults with CHD at an average age of 51 years [9]. However, sudden death accounted for 19% of deaths and happened at a younger age, 39.1 years. This high proportion of sudden death means that we can no longer wait for heart failure to develop before discussing EOL issues with our patients.

Early and proactive EOL discussion and advanced care planning has been shown to be beneficial in both oncology and acquired heart failure patients [29–31], with less aggressive medical care at the end and earlier hospice referral [32]. Until recently, little was known as to the preferences of ACHD patients. A study by Tobler et al.[33▪▪] in Toronto has looked at the experiences of EOL communication of both ACHD patients and their healthcare providers. The study was based on a questionnaire completed by 200 patients and 48 ACHD specialists in an outpatient clinic setting. They found that only 1% of patients had discussed EOL planning, whereas 50% of medics reported that they regularly discussed these matters. Another important finding was that 78% of patients expressed a wish for their healthcare provider to raise EOL issues and 62% wished for this to be initiated early on. This contrasted to only 38% of providers favouring early initiation. The patients’ wish for EOL issues to be discussed was irrespective of the disease severity, thus we must not ignore the need for information of those with less complex disease.

A further study by Tobler et al.[34▪▪] looked at the EOL experiences of ACHD patients who died in their hospital between 2000 and 2009. A total of 48 patients died in hospital for cardiac-related causes, all of whom had high symptom load. They found that only 10% of patients had documented EOL discussion, three of which had been done prior to admission. This was despite a median hospital stay of 16 days prior to death and almost half of these patients having previously been assessed for cardiac transplantation. A further finding was a trend towards resuscitation in younger patients. Resuscitation was less likely to be attempted in the 10% who had received EOL discussion.

These two studies show that, as a speciality, we need a more proactive and early approach to discussing of EOL issues and the provision of quality palliative care. However, whilst it would seem appropriate to initiate EOL discussions early on and in parallel to ongoing active care, as in the model proposed by Gibbs et al.[31], there is frequently no ‘triggering’ event for the deterioration. CHD is a lifetime event and this was highlighted in a book by a Canadian ACHD patient who commented that most patients ‘were facing their mortality as a result of a recent diagnosis of cancer or other terminal illness. I had been living with my condition all my life’ [35]. The optimal time for the initiation of EOL discussions remains unclear and warrants further research.

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Within ACHD, we have previously extrapolated our experiences of EOL care in acquired heart failure. The ACHD population differ, however, in that they have a lifetime illness and they are young. Despite the overall ACHD population becoming older, the cohort with complex disease remains young. One study demonstrated that in 2000, the median age of the entire ACHD population was 40 years, yet just 29 years in the severe subset [1]. As the Norwood operation has only been performed since the early 1980s, these patients will be younger still.

The reluctance to discuss EOL and introduce palliative care in younger patients is well documented, with younger patients tending to receive more aggressive treatment than older ones who are also more likely to have discussions regarding care options [36]. The unique needs of adolescents and young adults have been identified by oncologists. Bell et al.[37] examined the EOL experiences of patients in this age group with cancer and found that EOL discussions were frequently initiated very close to death. Reasons for this late communication included difficulties dealing with personal emotions, a desire to protect and variability in the disease trajectory. Brown et al.[38] surveyed 244 adults with cancer regarding their preferences for receiving bad news and showed that younger patients preferred a more collaborative approach with the patient making decisions regarding the future plans jointly with the doctor [38]. In 2010, Wein et al.[39▪] looked at the role of palliative care in young adults with cancer. They concluded that it was important to create a young adult team that includes palliative care to ensure early referrals, a correct culture of care that is patient-centred and appropriate teaching and research. As in ACHD, the parents of children who have survived cancer have previously acted as the patient's advocate with difficult conversations occurring with them rather than the patient [40]. Transition to adult clinics requires a change to ensure medical decisions become the domain of the patient, not the parent [41].

A further group whose experience we should draw on is cystic fibrosis (CF) patients. Similar to ACHD patients, they have a lifetime illness and their mean age at death is 28.6 years [42]. Bourke et al.[42] discuss an integrated model of palliative care provision to their CF patients, in which the specialist CF team deliver the majority of their care using established palliative care guidelines and pathways. However, when needed, they seek additional help from specialized palliative care teams. This approach may be an appropriate one for ACHD because of the highly specialized nature of it. Braithwaite et al.[43▪] in 2011 examined the EOL care in CF patients and found similar barriers to communication to above. They also highlight the frequently conflicting needs of being considered for transplantation whilst simultaneously optimizing EOL care, a problem that will increasingly become worse in ACHD.

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Adults with complex CHD, especially those with a Fontan circulation, are increasing in number and remain at long-term risk of complications and premature death. These patients are a unique group of patients who have been heralded as a success story of cardiac surgery, but whose long-term outlook and survival is unclear. Their advanced and supportive care needs are frequently ignored and neglected, and meeting these needs is the next big challenge we face as a speciality. By drawing on experience gained in oncology and CF, we must acknowledge the unique needs of young patients and learn how to address our patients’ preferences and identify their concerns.

EOL planning should become a routine part of the ACHD patient's assessment and needs to be re-evaluated at every significant clinical change. Furthermore, research is required to allow us to establish both local and national palliative care guidelines and pathways specific to ACHD to allow us to consistently address their palliative care needs.

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Conflicts of interest

There are no conflicts of interest.

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Papers of particular interest, published within the annual period of review, have been highlighted as:

  • ▪ of special interest
  • ▪▪ of outstanding interest

Additional references related to this topic can also be found in the Current World Literature section in this issue (p. 117).

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1. Marelli AJ, Mackie AS, Ionescu-Ittu R, et al. Congenital heart disease in the general population. Circulation 2007; 115:163–172.
2. Macmahon B, Mckeown T, Record RG. The incidence and life expectancy of children with congenital heart disease. Br Heart J 1953; 15:121–129.
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This large population-based study examines the mortality trends in CHD across the USA. It demonstrates a declining mortality in both children and adults.

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This is a large single-centre study from Japan examining how their changing surgical approach has improved the outcome in patients undergoing a Fontan operation.

14. Khairy P, Fernandes SM, Mayer JEJ, et al. Long-term survival, modes of death, and predictors of mortality in patients with Fontan surgery. Circulation 2008; 117:85–92.
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An extensive and up-to-date review of hypoplastic left heart syndrome including the most recent outcome data and the potential long-term complications these patients will encounter.

19. Huddleston C. The failing Fontan: options for surgical therapy. Pediatr Cardiol 2007; 28:472–476.
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A thorough review of the medical and surgical management of the failing Fontan. They do not, however, mention the need for palliative care involvement in these patients.

22. Patel ND, Weiss ES, Allen JG, et al. Heart transplantation for adults with congenital heart disease: analysis of the United Network for Organ Sharing Database. Ann Thorac Surg 2009; 88:814–822.
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An excellent review of the outcome in all patients (>41 000) listed for cardiac transplantation across the USA, specifically looking at those with CHD.

24. Irving C, Parry G, O'Sullivan J, et al. Cardiac transplantation in adults with congenital heart disease. Heart 2010; 96:1217–1222.
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This small study from the Mayo Clinic is the first to examine the benefits of a parallel approach of palliative care in patients being assessed for a specific life-prolonging intervention. Though they are examining patients with acquired heart failure, the practice would be applicable to CHD patients as well.

27. Larner AJ. Searching the Internet for medical information: frequency over time and by age and gender in an outpatient population in the UK. J Telemed Telecare 2006; 12:186–188.
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29. Catherine M, Paul S, Lorraine W, et al. Information needs of cancer patients in west Scotland: cross sectional survey of patients’ views. BMJ 1996; 313.
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33▪▪. Tobler D, Greutmann M, Colman JM, et al. End-of-life in adults with congenital heart disease: a call for early communication. Int J Cardiol 2012; 155:383–387.

The first of the two studies by the Toronto-based group looking specifically at communication in ACHD. This study focusses on the communication of end-of-life issues in a clinic setting.

34▪▪. Tobler D, Greutmann M, Colman JM, et al. End-of-life care in hospitalized adults with complex congenital heart disease: care delayed, care denied. Palliat Med 2012; 26:72–79.

The second study from this group highlights the lack of discussion about EOL in ACHD patients who die in hospital.

35. Mathieu P. What's your expiry date? Ontario:Patrick Mathieu Unlimited; 2005.
36. Badger JM. Factors that enable or complicate end-of-life transitions in critical care. Am J Crit Care 2005; 14:513–521.
37. Bell C, Skiles J, Pradhan K, Champion V. End-of-life experiences in adolescents dying with cancer. Support Care Cancer 2010; 18:827–835.
38. Brown VA, Parker PA, Furber RL, Thomas AL. Patient preferences for the delivery of bad news: the experience of a UK Cancer Centre. Eur J Cancer Care 2011; 20:56–61.
39▪. Wein S, Pery S, Zer A. Role of palliative care in adolescent and young adult oncology. J Clin Oncol 2010; 28:4819–4824.

This review of the specific palliative care needs of young people is largely based on the author's extensive experience and is illustrated with case histories.

40. Pousset G. Medical end-of-life decisions in children in Flanders, Belgium: a population-based postmortem survey. Arch Pediatr Adolesc Med 2010; 164:547–553.
41. Freyer DR. Transition of care for young adult survivors of childhood and adolescent cancer: rationale and approaches. J Clin Oncol 2010; 28:4810–4818.
42. Bourke SJ, Doe SJ, Gascoigne AD, et al. An integrated model of provision of palliative care to patients with cystic fibrosis. Palliat Med 2009; 23:512–517.
43▪. Braithwaite M, Philip J, Tranberg H, et al. End of life care in CF: patients, families and staff experiences and unmet needs. J Cyst Fibros 2011; 10:253–257.

congenital heart disease; palliative care; young patient

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