There has been a noticeable decline in the mortality of patients with ConHD as evidenced by a number of cohort studies. For example, Billet et al. examined the national mortality rate of patients in England and observed a 26 % decrease in age-standardized mortality rates for ConHD between 1994 and 2003 (collapsed across all age categories) [17]. Boneva et al. observed a similar reduction in mortality (39 %) between 1979 and 1997 based on data available from the multiple-cause mortality files compiled by the National Center for Health Statistics from the Centers for Disease Control and Prevention [18]. In a Canadian evaluation of adults with ConHD in Quebec from 1987 to 2005, mortality decreased by 31 % across the last 5 years of the study (2002–2005) compared to the earlier study years (1987–1990) [2]. Improvements were most prominently influenced by the reduction of childhood deaths among infants born with more severe forms of ConHD [2]. A large retrospective study conducted by Pillutla et al. utilized information from the Centers for Disease Control Multiple Cause-of-Death Registry to determine trends in mortality from 1979 to 2005 among adults with ConHD in the United States [1]. Results from the study were positive such that there had been a decline in mortality since 1979 for almost every type of lesion, including tetralogy of Fallot, transposition of the great arteries, atrial septal defect, ventricular septal defect, patent ductus arteriosus, and congenital aortic stenosis. The diagnosis and management of ConHD has changed significantly over the past 40 years, such that the number of adults living with severe ConHD defects now rivals the number of children living with the same [19]. Marelli et al. found that, between 1985 and 2000, the prevalence of severe ConHD in adults increased by 85 %, whereas it increased by only 22 % among pediatric populations [19]. This further illustrates the increasing presence of survivors with complex ConHD who will require long-term care as they continue to age.

In the past, research investigating the mortality associated with ConHD focused on pediatric populations and there was less known about the causes of death in adult patients. In line with the changing life expectancies of this population, recent research has more thoroughly investigated the changing causes and rates of mortality of adults with ConHD. A cohort study evaluating the 25-year mortality rate of adults with ConHD in Oregon in the United States observed that mortality from surgical procedures had declined, although late mortality associated with cardiac complications remained high [20]. It is now known that adults with ConHD die from a range of both cardiovascular and non-cardiovascular causes. Among non-cardiovascular deaths, malignancy and pneumonia are the predominant causes [4]. Since 2000, for adults with non-cyanotic forms of ConHD, myocardial infarction has become the leading cause of death, suggesting that coronary heart disease is developing within this aging population [1]. Arrhythmia and heart failure, however, remain the primary contributing causes of death for cyanotic lesions [1]. Whereas death due to heart failure is typically a prolonged and progressive course, sudden cardiac death also affects approximately one-quarter of patients [4, 10].

Verheugt and colleagues analyzed the Dutch CONCOR national registry for adult ConHD, which is linked to the national mortality registry, and reviewed 6,933 patients [4]. Of this sample, 197 (3 %) died during the total follow-up of 24,860 patient years. The majority of the deceased patients were male (58 %) and the median age at death was 49 years (range: 20–91 years). On average, patients died much younger from sudden death (39 years) than heart failure (51 years). Defects with the highest mortality were univentricular complexes, double outlet right ventricle, and tricuspid atresia. Further, endocarditis, supraventricular arrhythmia, ventricular arrhythmias, conduction disturbances, myocardial infarction, and pulmonary hypertension were each associated with an increased risk of cardiovascular or non-cardiovascular mortality (after adjustment for age, gender, and defect complexity). This study highlighted that, despite improvements in survival, patients with ConHD have excess mortality compared to the general population and that the vast majority of patients die from cardiovascular causes.

There is thus a growing cohort of adult survivors with complex ConHD who will require specialized care as they continue to age. Adults with complex forms of ConHD are considered to have a chronic medical condition associated with a shortened life expectancy, with many experiencing a prolonged state of illness prior to death [5]. Although patients now live longer, cardiac complications such as arrhythmias and heart failure often appear later in life. Surgical and transplant options may be limited to a select subset of patients [21]. Therefore, as individuals with ConHD progress into adulthood, disease management may be considered palliative, such that it entails a shift from a primary focus on life-prolonging measures to increased attention targeting enhancement of quality of life. As such, adults with ConHD may benefit from the same palliative care principles that are regularly applied to other chronically ill groups of patients, including those with acquired heart disease [13, 16]. Comprehensive palliative care involves ACP and EOL discussions between patients, families, and health-care providers. Among adults with heart failure associated with heart disease and other groups of chronically ill adults, ACP and EOL discussions have been associated with positive outcomes [22, 23]. There is now a small but growing body of literature that is investigating current practices of ACP and EOL care among adults with ConHD.

Advance care directives are written documents that allow individuals to name a substitute decision maker and identify treatment and health-care preferences in advance of a time (e.g., when they are seriously ill or dying) when they may be incapable of communicating for themselves. Such documents typically benefit patients, family members, and health-care providers. Previous research in congestive heart failure has shown that patients prefer to have information about their medical condition and prognosis communicated to them in a timely fashion prior to the onset of debilitating stages of illness [11, 23, 24]. Early knowledge and information about the possibility of death from progressing illness may be helpful in later communication and care planning when the patient’s health is deteriorating and it is more difficult to plan [25]. The phrase “hope for the best, and prepare for the worst” has been recommended for communicating the importance of ACP [25]. Given the chronic nature of ConHD, the known common sequelae (e.g., arrhythmias and heart failure), and the increased risk for premature death, ConHD represents a lifelong illness that requires both active care and future planning. The 2008 American College of Cardiology/American Heart Association guidelines for the management of adults with ConHD recommend that patients complete ACP directives “at a time during which they are not morbidly ill or hospitalized, so that they can express their wishes in a less stressful setting” [12].

The completion of advance care directives, however, does not appear to reflect standard practice among adults with ConHD [26, 27]. Tobler and colleagues evaluated the prevalence of the completion of advance directives by patients as well as patient preference regarding life expectancy information [26]. Two hundred outpatients with ConHD (mean age = 35 ± 15 years; 52 % male), of whom the majority (81 %) had moderate to severe disease complexity, completed surveys assessing their knowledge and preferences for advance care planning. Of the total sample, only 5 % had completed any advance directives and over half (56 %) indicated that they had never heard of this term. Despite these findings, a substantial majority of the sample (87 %) reported that it would be important to have an advance directive in place should they be dying and unable to express their wishes. Further, in the event that they were to become too unwell to make independent health-care decisions, most patients indicated a preference for family members (86 %) rather than physicians (50 %) to make their health-care decisions. Although only 35 % of patients reported that they would like to know when they would die (if that information was available), double this proportion (70 %) were interested in receiving information about the general life expectancy of adults with their same form of ConHD. In summary, as a group, adults with ConHD appear interested in completing advance directives, engaging family members in health-care decision-making, and obtaining information about longer-term health-care expectations. These goals can be achieved if discussions about advance care planning become a routine practice, as has recently been recommended [12, 28].

The patient perspective regarding EOL matters was explored in a survey of 123 adults with ConHD regarding their level of concern on a scale ranging from 1 (“not at all concerned”) to 5 (“extremely concerned”) on various medical, psychosocial, and lifestyle topics [29]. The mean score on the item labeled “death and dying” was 2.8 ± 1.3, with 57 % endorsing moderate to extreme concern (defined as a score of between 3 and 5 on the 5-point scale). When contemplating their own death and dying, the following items were identified as being “very important” by more than half of the respondents in Tobler et al.’s survey of adults with ConHD: (1) honest answers from doctors, (2) understanding treatment choices, (3) visits from family and friends, (4) having said everything they want to say, (5) being free from pain, (6) being physically comfortable, (7) not being a burden to loved ones, (8) knowing how to say good-bye, (9) being at peace spiritually, and (10) fulfilling personal goals/pleasures [26].

Tobler et al. found that 78 % of patients thought that a member of their medical team should initiate EOL discussions and the majority also agreed that the cardiologist was the most appropriate provider to do so [11]. The preference for EOL discussions did not differ by any demographic variables or disease complexity. In contrast to this reported preference to have EOL conversations, only 1 % of patients recalled having EOL discussions with their caregivers. Tobler et al. also surveyed 48 health professionals (primarily cardiologists) providing care to adults with ConHD [11]. Fifty percent of this provider sample reported that they commonly initiated discussions of life expectancy, advance care planning, and resuscitation preferences. Both patients and providers were asked the same question: “When do you think is the best time to bring up end-of-life discussions?” Whereas the majority of patients were in favor of earlier discussions (i.e., “before getting sick”), most providers thought that these discussions should wait until patients are first diagnosed or symptomatic with a life-threatening complication. These findings draw attention to the infrequency at which EOL discussions with adults with ConHD actually occur (or are recalled by patients) as well as the discrepancy between patient and provider perceptions regarding the optimal timing of such discussions.

The two aforementioned studies included surveys of patient preferences and recalled EOL discussions. There is a notable contrast between 1 % of patients recalling EOL discussions with providers and 50 % of providers saying that they commonly initiate such conversations. One possible explanation is that patients do not identify conversations regarding life expectancy, advance care planning, or resuscitation as EOL discussions [11]. Indeed, studies with other medical populations revealed that patients often have difficulty understanding EOL discussions when they do occur [30]. While this may also be the case with adults with ConHD, the results of another study suggest that EOL discussions with adults with ConHD are not regularly documented. Specifically, researchers retrospectively examined the experience of 48 patients with ConHD who died in hospital due to cardiac causes (mean age at death 37 ± 14 years) [27]. Careful medical chart abstraction was performed in order to document the circumstances of death, EOL discussions, and the provision of EOL care. Most patients in this study cohort had defects of moderate to severe complexity and 42 % had previously undergone assessment for heart transplantation. In other words, death was not completely unanticipated. Heart failure was the documented cause of death for 50 % of patients. Prior to death, 44 % of patients were on mechanical ventilation and 15 % were undergoing dialysis; 52 % of patients died under attempted resuscitation. Only 10 % of the patients, however, had documented EOL discussions either before or during their final admissions. Documented EOL discussions with either patients or their substitute decision makers were associated with a significantly lower incidence of attempted resuscitation (12 % vs. 100 %). Further, not one patient who had been referred to palliative care died under attempted resuscitation.