Examining the Real‐Life Journey of Individuals and Families Affected by Single‐Ventricle Congenital Heart Disease

Abstract

Background The lifetime journey of patients with single‐ventricle congenital heart disease is characterized by long‐term challenges that are incompletely understood and still unfolding. Health care redesign requires a thorough understanding of this journey to create and implement solutions that improve outcomes. This study maps the lifetime journey of individuals with single‐ventricle congenital heart disease and their families, identifies the most meaningful outcomes to them, and defines significant challenges in the journey. Methods and Results This qualitative research study involved experience group sessions and 1:1 interviews of patients, parents, siblings, partners, and stakeholders. Journey maps were created. The most meaningful outcomes to patients and parents and significant gaps in care were identified across the life journey. A total of 142 participants from 79 families and 28 stakeholders were included. Lifelong and life‐stage specific journey maps were created. The most meaningful outcomes to patients and parents were identified and categorized using a “ capability (doing the things in life you want to), comfort (experience of physical/emotional pain/distress), and calm (experiencing health care with the least impact on daily life) ” framework. Gaps in care were identified and classified into areas of ineffective communication, lack of seamless transitions, lack of comprehensive support, structural deficiencies, and insufficient education. Conclusions There are significant gaps in care during the lifelong journey of individuals with single‐ventricle congenital heart disease and their families. A thorough understanding of this journey is a critical first step in developing initiatives to redesign care around their needs and priorities. This approach can be used for people with other forms of congenital heart disease and other chronic conditions. Registration URL: https://www.clinicaltrials.gov ; Unique identifier: NCT04613934.

Medical and Day-to-Day Burden on Families of Children with Hypoplastic Left Heart Syndrome Who Have Undergone Single Ventricle Surgical Palliation over a Decade

“…It is important that parents have a full understanding of the disease course, of the complex needs of their children and the challenge for the entire family in order to make an informed decision about their child's care [11].…”

“…It is imperative that families understand and appreciate what these surgeries entail and what life after SVSP may look like when they choose surgical palliation [11]. Even with improving survival, children with HLHS need continuous medical attention and face frequent complications if they are to survive to adulthood [4,12,13].…”

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

“…Notably, if minor cardiac developmental aberrations are encompassed, such as patent foramen ovale and aortic bicuspid valve, the prevalence of CHD rises to around 5% of all live births [4][5][6]. As an array of cardiovascular developmental deformations, CHD is clinically categorized into > 30 distinct isoforms, encompassing double-outlet right ventricle (DORV) and ventricular septal defect (VSD) [2,[7][8][9][10][11][12][13][14]. Though certain mild/minor forms of CHD may resolve spontaneously [2], severe/complex forms of CHD usually lead to worse quality of life [15][16][17], reduced exercise performance [18][19][20][21], neurodevelopmental delay and structural brain anomaly [22][23][24][25][26], ischemic/thromboembolic stroke [27,28], acute renal injury/chronic kidney disease [29][30][31][32], hepatic fibrosis [33,34], pulmonary dysplasia/ pulmonary arterial hypertension [35][36][37], bacte-Am J Transl Res 2024;16 (5):2034-2048 rial endocarditis [38][39][40][41][42], chronic heart failure …”

Discovery of BMP10 as a new gene underpinning congenital heart defects

“…Besides, when minor cardiovascular developmental deformities are encompassed, such as atrial septal aneurysm, patent foramen ovale, right aortic arch, and aortic bicuspid valve (the most common form of congenital cardiovascular abnormalities, occurring in 1% to 2% of people), the prevalence of CHD is as high as ~5% among live births [3][4][5]. As a vast collection of cardiovascular developmental anomalies, CHD is clinically assorted to >26 diverse isoforms, including patent ductus arteriosus (PDA), aortic/pulmonary atresia, aortic/pulmonary stenosis, aortic coarctation, aortopulmonary window, atrial/ ventricular septal defect, tetralogy of Fallot (the Am J Transl Res 2024;16(1):109-125 commonest cyanotic CHD), atrioventricular septal defect, single ventricle, endocardial cushion defect, transposition of the major arteries, double outlet right ventricle, aortic arch interruption, abnormal coronary artery connection, cor triatriatum, and left heart hypoplasia/left ventricular noncompaction/spongy myocardium [2,[6][7][8][9][10][11]. Though some minor types of CHD do resolve spontaneously [2], severe types of CHD may give rise to degraded health-correlated quality of life [12][13][14][15], impaired exercise capacity [16][17][18], pulmonary arterial hypertension [19][20][21], acute brain injury and delayed neurodevelopment [22][23][24][25], thromboembolic/ischemic cerebral stroke [26][27][28], acute renal injury and chronic kidney disease [29][30][31], liver fibrosis and dysfunction [32], infective endocarditis [33][34][35]…”