Health-related quality of life among paediatric patients with coarctation of the aorta: an observational study

ABSTRACT

Advancements in early diagnosis and paediatric cardiac surgery have improved the long-term survival of patients with congenital heart disease, necessitating a thorough assessment of their health-related quality of life (HRQoL). This study aimed to assess HRQoL in paediatric patients with coarctation of the aorta (CoA) (both as reported by patients and caregivers), and to evaluate associated factors. Patients aged 5–18 years diagnosed with CoA and their parents were enrolled at Bambino Gesù Children’s Hospital between September 2016 and December 2017. Socio-demographic characteristics were recorded using a family form, and the Pediatric Quality of Life Inventory (PedsQL) 3.0 cardiac module was used to evaluate HRQoL. Clinical data were retrieved from medical chart reviews. In this observational study, sixty-five pediatric patients (39 males, median [IQR] age 12 [9–14]) with CoA and their parents (65 mothers and 65 fathers) were enrolled. These patients exhibited overall good HRQoL. Mothers reported significantly lower total HRQoL scores compared to patient self-reports (p = .037), as well as treatment anxiety (p = .033), and cognitive problems (p = .021). Pediatric patients with CoA perceived their HRQoL better than their mothers did. Female sex and older age were associated with lower HRQoL scores.

KEYWORDS:

• Quality of life
• congenital heart disease
• paediatric
• coarctation of the aorta

Introduction

Coarctation of the Aorta (CoA) is a Congenital Heart Disease (CHD) that manifests in 0.4–0.6 per 1000 live births. It is typified by a constriction of the aorta, potentially leading to hypertension and other complications (Torok et al., 2015). Over the past two decades, advancements in early diagnosis and pediatric cardiac surgery for patients with CHD have extended their life expectancy, allowing many to transition into adulthood without severe physical impairment (Spector et al., 2018). This progression has brought the assessment of Health-Related Quality of Life (HRQoL) to the forefront of clinical concern. HRQoL offers an overview of a patient’s well-being, enabling clinicians to identify any physical and psychosocial impairments and evaluate the long-term effects of chronic conditions such as CoA (Uzark et al., 2008). The focus on assessing the quality of life in pediatric patients with CHD, including those with CoA, has markedly increased in recent years and has become integral to the management and healthcare of these patients (De Smedt et al., 2016; Mansilla-Chacón et al., 2021). Evidence indicates that several clinical and sociodemographic determinants are associated with a poorer HRQoL in pediatric patients with CHD. These include lower parental support, lower socio-economic status, limitations due to physical impairment, CHD severity, and the presence of psychological symptoms such as anxiety or depression (Drakouli et al., 2015; Ladak et al., 2017). Studies of HRQoL in pediatric patients with CHD, including CoA, have yielded conflicting results. Some authors have reported a superior HRQoL in children with CHD compared to the general population (Reiner et al., 2019), while others have documented a decreased HRQoL compared to healthy peers, particularly post-cardiac surgery (Drakouli et al., 2015). Moreover, several studies have demonstrated significant discrepancies between children’s self-reported HRQoL and their parents’ proxy-reported responses, with children generally perceiving their HRQoL more positively than their caregivers’ assessments (Drakouli et al., 2015; Kwon et al., 2011; Moreno-Medina et al., 2020; Sears et al., 2011). Notably, patients who undergo CoA repair during infancy exhibit excellent early survival, although long-term outcomes, including the incidence of recoarctation or other complications, remain a concern (Al-Dairy, 2023; Oster et al., 2019). While surgical repair of CoA is typically recommended in infancy to mitigate long-term morbidity and reduced life expectancy (Schoeneberg et al., 2021), data on HRQoL in the pediatric population with CoA is limited, and results on the quality of life of adult patients with CoA are conflicting. For example, one study found that adult patients with CoA who underwent surgical repair reported a quality of life comparable to the healthy population (Santos Silva & Casanova, 2015). Conversely, a recent study found that adult patients with CoA who underwent surgical repair reported a significant impairment in general health (Heck et al., 2018). To date, no studies have been published about HRQoL in pediatric patients with CoA. Therefore, the aim of this study is to assess HRQoL in patients with CoA, using self-reported and parent-reported surveys, and investigate factors affecting quality of life.

Methods

This study, approved by the Research Ethics Committee of Bambino Gesù Children’s Hospital (prot. 1315), was conducted between September 2016 and December 2017. Patients aged 5–18 years with a diagnosis of CoA were enrolled in this observational study. The inclusion criteria were: 1) age between 5 and 18 years; 2) diagnosis of CoA confirmed by an experienced cardiologist, and 3) if operated, at least 6 months post-surgery. Patients were excluded if they had a major developmental disability or an associated non-cardiac condition that could potentially affect the quality of life, or if the families were unable to read or complete the questionnaires. After obtaining informed consent, a trained psychologist performed individualized HRQoL assessments for each patient and their caregiver.

Measurements

Demographic Information A family form was used to record socio-demographic characteristics such as the parents’ age, live-birth order, the presence of siblings, the number of children in the family, parental status, parental level of education, and parental occupational status. Clinical data, such as sex, age, disease type, current medications, and previous cardiac surgical procedures, were retrieved from the medical chart review. All questionnaires were completed as self-reports by the raters.

Assessment of Health-related Quality of Life the Italian version of the Pediatric Quality of Life Inventory™ (PedsQL) 3.0 cardiac module (Grimaldi Capitello et al., 2021; Uzark et al., 2003), a disease-specific self-report HRQoL questionnaire, was administered to CoA pediatric patients and their caregivers. The PedsQL cardiac module provides child self-report modules and parent proxy-report modules that evaluate children aged 5–7, 8–12, and 13–18 years. The PedsQL 3.0 cardiac module has five scales related to symptoms (7 items), perceived physical appearance (3 items), treatment anxiety (4 items), cognitive problems (5 items), and communication (3 items). An additional scale of therapeutic barriers (5 items) was included to measure adherence problems for patients with drug addiction. A 5-point Likert scale is used with self-report and parent proxy report (0, never a problem; 1, almost never a problem; 2, sometimes a problem; 3, often a problem; 4, almost always a problem). Items are reverse-scored and linearly transformed, resulting in a score of 0–100; higher scores represent better HRQoL. The reliability and validity of the PedsQL Cardiac Module 3.0 have been established in Italian patients with acquired or congenital heart disease.

Ethics statement

The Bambino Gesù Ethics Committee approved this study (prot. 1315). Written parental consent and patient assent, when applicable, were obtained during routine outpatient clinic visits at the Bambino Gesù Children’s Hospital.

Statistical analysis

Quantitative variables were expressed as median and Interquartile Range (IQR). Qualitative variables were expressed as counts and percentages (%). No a-priori sample size calculation was performed. As the preliminary Shapiro-Wilk test rejected the null hypothesis of normality, a non-parametric one-way ANOVA on ranks (Kruskal – Wallis test) was applied in the main analysis to compare HRQOL among children, mothers, and fathers. The Dwass-Steel-Critchlow-Fligner procedure, a two-sided, non-parametric procedure that provides family-wise error protection, was most often used as a post-hoc test after significance was found from the Kruskal-Wallis Test (Hollander et al., 2014). Spearman’s correlation was used to assess the association between sex, current medications, previous surgical procedures, and age on HRQOL scores in both patients and caregivers. Multiple linear regression analysis was used to assess the relationships between predictor variables simultaneously, with HRQOL score as a continuous outcome. Statistical analyses were performed using R: A Language and Environment for Statistical Computing (Version 4.1) (R Core Team, 2021).

Results

Patient characteristics

This observational study enrolled sixty-five pediatric patients (39 males, median [IQR] age 12 [9–14]) with CoA and their parents (65 mothers and 65 fathers). The sample consisted entirely of Caucasian patients. Most parents were married (80.0%), and most of the participants had at least one sibling (76.9%). More than half of the mothers (55.4%) and fathers (70.8%) had 10–11 years of education. Socio-demographic information, including age, sex, parental status, parent’s educational level, previous surgical cardiac procedures, and current medications, is shown in Table 1.

Table 1. Sample characteristics.

	Overall
n	65
Age (years)	12 (9–14)
Sex = male (%)	39 (60.0)
Previous cardiac surgical procedures (%)	54 (83.1)
Current medications (%)	20 (30.8)
Live-birth order (%)
Only child	15 (23.1)
Second Child	26 (40.0)
Third child or more	24 (36.9)
Presence of sibling = Yes (%)	50 (76.9)
Number of children (%)
One	17 (26.2)
Two	38 (58.5)
Three or more	10 (15.4)
Parental status (%)
Unmarried couples	6 (9.2)
Divorced	7 (10.8)
Married	52 (80.0)
Mother’s age (years)	43 (39–47)
Mother’s educational level (%)
0–9 years	7 (10.8)
10–11 years	36 (55.4)
12+ years	22 (33.8)
Mother’s occupational status (%)
Freelance	1 (1.5)
Full time	15 (23.1)
Not declared	40 (61.5)
Part-time	9 (13.8)
Father’s age (years)	46 (42–50)
Father’s educational level (%)
0–9 years	9 (13.8)
10–11 years	46 (70.8)
12+ years	10 (15.4)
Father’s occupational status (%)
Freelance	1 (1.5)
Full time	21 (32.3)
Not declared	41 (63.1)
Part-time	2 (3.1)

Note. Data are expressed as median and interquartile range (IQR) and counts (percentages) for continuous and categorical variables, respectively.

Health-related quality of life

HRQoL scores for the PedsQL cardiac module for the entire cohort are shown in Figure 1. Overall, pediatric patients with CoA reported better HRQoL scores than their mothers, who showed scores comparable to those of the fathers. There were significant differences between self-reported and proxy-reported HRQoL (Table 2) in total score (p = 0.029), treatment anxiety (p = .032), and cognitive problems (p = .031). Specifically, mothers reported significantly lower total HRQoL scores compared to patients’ self-reports (p = .037), as well as treatment anxiety (p = .033), and cognitive problems (p = .021). No differences were found between HRQoL reported by fathers and self-reported HRQoL scores. Comparisons between patient, father, and mother report scores are presented in Table 3.

Figure 1. HRQoL median domains scores as reported by fathers, mothers and patients.

Note. (F) = Fathers; (M) = Mothers

Table 2. Differences between HRQOL scores domains as reported by raters.

Domain	χ^2	df	p
Heart problems and treatment	4.20	2	0.122
Problems with treatment	3.71	2	0.157
Physical appearance	2.43	2	0.296
Treatment anxiety	6.91	2	0.032
Cognitive problems	6.98	2	0.031
Communication problems	2.46	2	0.292
Total score	7.08	2	0.029

Note. Kruskal – Wallis test; χ² = chi squared; df= degree of freedom; p < 0.05 values are considered as statistically significant.

Table 3. Post-hoc analysis of HRQOL scores according to raters split by HRQOL domains.

Domain	Comparison		W	p
Heart problems and treatment	Fathers	Mothers	−2.365	0.216
	Fathers	Patients	−2.738	0.129
	Mothers	Patients	0.646	0.892
Problems with treatment	Fathers	Mothers	−1.09	0.723
	Fathers	Patients	−2.32	0.229
	Mothers	Patients	−2.06	0.310
Physical appearance	Fathers	Mothers	−2.15	0.283
	Fathers	Patients	−1.28	0.640
	Mothers	Patients	1.22	0.665
Treatment anxiety	Fathers	Mothers	−2.665	0.143
	Fathers	Patients	0.378	0.961
	Mothers	Patients	3.547	0.033
Cognitive problems	Fathers	Mothers	−1.96	0.350
	Fathers	Patients	1.25	0.649
	Mothers	Patients	3.77	0.021
Communication problems	Fathers	Mothers	−1.192	0.677
	Fathers	Patients	0.839	0.824
	Mothers	Patients	2.199	0.266
Total score	Fathers	Mothers	−2.926	0.096
	Fathers	Patients	0.014	1.000
	Mothers	Patients	3.475	0.037

Note. Dwass-Steel-Critchlow-Fligner (DSCF), test for multiple comparisons analysis of the differences between the median values of the quality of life, rated by the patients, mothers and fathers. W = Wilcoxon rank sum test statistic; p < 0.05 values are considered as statistically significant.

Relationship between HRQoL and clinical outcomes in children with CoA

The effects of sex, age, current medications, and previous cardiac surgical procedures on HRQoL scores reported by children/adolescents and parents were computed using a correlation matrix and linear regression analysis. In the correlation analysis, there was no significant correlation between all considered factors and overall HRQoL reported by mothers. Upon analyzing the scores of the fathers, we noticed a small positive correlation (rho = − 0.35, p < .05) between age and physical appearance and between the sex of female children and lower scores in the communication problems area (rho = 0.37, p < .05). Finally, there was also a slight positive correlation (rho = 0.33, p < .05) between sex (female) and lower scores in the heart problems and treatment scale. Upon analyzing the patient scoring, we also noticed an inverse correlation between age and cognitive problems (rho = − 0.26, p < .05).

In the regression analysis (Table 4), considering the PedsQL scores as reported by patients, being female influenced most of the self-reported HRQoL domains (e.g. Heart problems and treatment, Physical appearance, Treatment anxiety, Cognitive problems, Communication problems, and Total score), and age affected several HRQoL domains (e.g. Problems with treatment, Cognitive problems, and Communication problems). Father-reported HRQoL was affected by the age (Problems with treatment and Physical appearance) and sex of the child (Physical appearance, Communication problems, and Total score). Mother-reported HRQoL was affected by the age (Cognitive problems) and sex of the child (Physical appearance, and Total score). Previous cardiac surgical procedures and the need for medication seem to have a lower influence on self-reported HRQoL domains as reported by all raters, except for the Problems with treatment domain (fathers) and Cognitive problems (mothers).

Table 4. Multiple regression analysis of predictors (age, sex, surgery and medication) on dependent variables (HRQOL domain scores) as reported by raters.

		Age		Sex		Surgery		Medication
Patients	Heart problems and treatment	−0.03		−4.1	*	2.6		3.32
	Problems with treatment	−0.72	*	−2.1		3.1		−7.5
	Physical appearance	0.1		−10.1	*	8.7		0.2
	Treatment anxiety	0.5		−8.1	*	6.9		−4.7
	Cognitive problems	−0.8	*	−7.9	*	4.9		0.1
	Communication problems	1.1	*	−7.1	*	0.2		−0.9
	Total score	0.1		−7.3	*	4.3		−2.7
Fathers	Heart problems and treatment	0.2		−2.9		7.3	*	4.1
	Problems with treatment	−0.5	*	−2.1		3.5		4.0
	Physical appearance	−1.1	*	−8.5	*	2.7		−0.7
	Treatment anxiety	0.2		−3.8		11.9		0.6
	Cognitive problems	0.7		−2.3		8.5		0.5
	Communication problems	0.4		−10.1	*	6.4		0.7
	Total score	0.1		−5.5	*	4.6		−2.7
Mothers	Heart problems and treatment	0.1		−0.4		1.7		4.2
	Problems with treatment	−0.4		−2.2		−4.1		5.0
	Physical appearance	−0.8		−8.2	*	8.9		−2.6
	Treatment anxiety	0.4		−3.6		7.5		−5.2
	Cognitive problems	1.2	*	−2.5		9.5	*	−0.5
	Communication problems	0.4		−6.7		3.4		−1.4
	Total score	0.3		−4.4	*	4.7		−4.4

Note. Values are linear regression coefficients (estimate). *p < .05. Reference level: Age (years); Sex (female); the presence of current medications; and the presence of previous cardiac surgical procedures.

Discussion

Pediatric patients with CoA reported better self-reported HRQoL compared to their mothers’ reports, and also when compared to their fathers’ report scores. Overall, findings on HRQoL in children with CoA are better compared to those with other chronic health conditions, and are comparable to results in healthy children. These results are consistent with previous findings in pediatric CoA patients, both with or without the same metric of HRQoL (Remmele et al., 2022; Uzark et al., 2003). Furthermore, our findings seem to align with data on HRQoL in adult patients with CoA, who report a fairly good quality of life when compared with healthy controls (Heck et al., 2018). As Moons et al. (2021) previously suggested, this could be due to the protective effect of the cardio-pulmonary bypass used during the correction of CoA that reduces the risk for neurologic and cognitive sequelae. Pediatric patients with CoA had better median scores in total HRQoL as well as in treatment anxiety and cognitive problems than their mothers. The observed tendency of mothers to underestimate HRQoL in their children could be due to the high rate of parental anxiety for the perceived uncertainty in the prenatal diagnosis pathway. Prenatal diagnosis of CoA during the fetal period remains challenging: the ventricular discrepancy for the diagnosis of coarctation is moderately sensitive but there is a high rate of false positives, especially after 34 weeks (up to 80%), that can increase the level of parental anxiety (Buyens et al., 2012). Moreover, female sex and older age were associated with lower HRQoL scores in several areas (physical appearance, communication problems, heart problems and treatment, and cognitive problems) as perceived by patients and their caregivers. These results are consistent with what has been previously reported in studies investigating risk factors for HRQoL in populations with CHD: particularly, female sex and older age have been suggested to predict lower HRQoL (Andonian et al., 2021; Mei et al., 2021). The divergence between self- and proxy-reported HRQoL has been reported before in several studies on HRQoL in pediatric CHD (Drakouli et al., 2015). Differences in HRQoL perception might be explained by the gap between a patient’s own expectations and parents’ or caregivers’ expectations regarding their social and cognitive skills and adaptive behaviors (Moreno-Medina et al., 2020).

Strengths and limitations

To the best of our knowledge, this is the first study that specifically investigates HRQoL in pediatric CoA patients and their caregivers. Furthermore, in this study, we used a questionnaire specifically developed for patients with CHD (PedsQL 3.0 cardiac module) to evaluate HRQoL in pediatric patients with CoA. The main limitation of this study is the absence of a control group of healthy children. Another limitation is the cross-sectional research design; follow-up data and measurements are useful to properly assess longitudinal HRQoL trajectories. Moreover, another study limitation might include constraints in generalizability to a wider population because the study recruitment was completed in a single hospital and excluded individuals who cannot read/write. Finally, in this study, we did not include an evaluation of HRQoL of CoA patients with neurodevelopmental disabilities and/or intellectual disabilities, nor parental mental health.

Conclusion

Overall, the HRQoL levels in paediatric patients with CoA are found to be satisfactory when compared with healthy controls. Mothers tended to underestimate the HRQoL scores in comparison to the patients’ self-perception. Despite the fact that the quality of life reported in patients with CoA is comparable to the healthy population, the diagnosis of the disease carries a significant emotional burden, especially for the parents. This burden relates to anxiety and distress, leading to an excessive concern for the health of their child. Further longitudinal monitoring of the psychological well-being of patients with CoA and their parents will serve to confirm these preliminary data.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported also by the Italian Ministry of Health with Current Research funds.