Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being 2016-2019.
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SUBMITTER: Downing KF
PROVIDER: S-EPMC8751822 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Studies of outcomes among adults with congenital heart defects (CHDs) have focused on those receiving cardiac care, limiting generalizability. The Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) will assess comorbidities, health care utilization, quality of life, and social and educational outcomes from a US population-based sample of young adults living with CHD. METHODS:Individuals with CHD born between 1980 and 1997 were identified using active, population-based birth defects surveillance systems from 3 US locations (Arkansas [AR]; Arizona [AZ]; and Atlanta, Georgia [GA]) linked to death records. Individuals with current contact information responded to mailed survey materials during 2016 to 2019. Respondents and nonrespondents were compared using χ2 tests. RESULTS:Sites obtained contact information for 74.6% of the 9,312 eligible individuals alive at recruitment. Of those, 1,656 returned surveys, either online (18.1%) or via paper (81.9%), for a response rate of 23.9% (AR: 18.3%; AZ: 30.7%; Atlanta, GA: 28.0%; P value < .01). For 20.0% of respondents, a proxy completed the survey, with 63.9% reporting that the individual with CHD was mentally unable. Among respondents and nonrespondents, respectively, sex (female: 54.0% and 47.3%), maternal race/ethnicity (non-Hispanic white: 74.3% and 63.0%), CHD severity (severe: 33.8% and 27.9%), and noncardiac congenital anomalies (34.8% and 38.9%) differed significantly (P value < .01); birth year (1991-1997: 56.0% and 57.5%) and presence of Down syndrome (9.2% and 8.9%) did not differ. CONCLUSIONS:CH STRONG will provide the first multisite, population-based findings on long-term outcomes among the growing population of US adults with CHD.
| S-EPMC9141095 | biostudies-literature
Project description:BackgroundImproved treatment options for congenital heart disease (CHD) lead to a growing number of women with CHD at reproductive age. Due to physical and psychological burden, pregnancies in women with CHD often count for high-risk. Resulting emotional distress can adversely impact pregnancy, motherhood and fetal health. The present study aims to retrospectively investigate mental outcomes and indices of adjustment in women with CHD before, during and after pregnancy. The novel concept of illness identity is applied to explain how patients experience and integrate their CHD into their identities.MethodsPatient-reported outcome measures on mental functioning and illness identity were assessed in a sample of 121 postpartum women with CHD [mean age: 42.7±9.2 (range, 27-81) years] at the German Heart Centre Munich between August and November 2021 in a cross-sectional design. Descriptive analyses, correlations and linear regression models were calculated.ResultsRetrospectively assessed prevalence of emotional distress before giving birth was high (47.0%) and peaked shortly after childbirth in terms of elevated symptoms of postpartum depression and trauma. During the course of maternity, emotional distress decreased significantly (24.1%, P<0.001). Overall, postpartum women demonstrated high scores in functional illness identity states (i.e., acceptance and enrichment) and low scores in dysfunctional states (i.e., rejection and engulfment). CHD severity was not directly associated with mental outcomes (P>0.05), whereas maternal cardiovascular risk, according to the WHO classification, was significantly associated with a higher prevalence of postpartum trauma (t=2.485, P=0.015).ConclusionsPostpartum mental health problems, such as (postpartum) depression, anxiety, and posttraumatic stress can become a serious burden which might be detrimental to the mother's well-being and her infant's development. Present findings emphasise the urgent need for a holistic approach focusing on pregnant women with CHD starting at the prepartum stage to prevent adverse consequences and promote maternal well-being. Illness identity might become an important target construct for clinical practice as it may positively and enduringly influence mental well-being of pregnant women with CHD.
| S-EPMC9412213 | biostudies-literature
Project description:Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2 (9 patients), or a 15q14 microdeletion affecting MEIS2 (14 patients). All but one de novo MEIS2 variant were identified by whole-exome sequencing. One variant was found by targeted sequencing of MEIS2 in a girl with a clinical suspicion of this syndrome. In addition to the triad of palatal defects, heart defects, and developmental delay, heterozygous loss of MEIS2 results in recurrent facial features, including thin and arched eyebrows, short alae nasi, and thin vermillion. Genotype-phenotype comparison between patients with 15q14 deletions and patients with sequence variants or intragenic deletions within MEIS2, showed a higher prevalence of moderate-to-severe intellectual disability in the former group, advocating for an independent locus for psychomotor development neighboring MEIS2.
| S-EPMC6336847 | biostudies-literature
Project description:A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the Mediator complex, was previously associated with transposition of the great arteries (TGA) and intellectual disability (ID), and led to the identification of missense mutations in three patients with isolated TGA. Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. Here, we describe for the first time, three patients with copy number changes affecting MED13L and delineate a recognizable MED13L haploinsufficiency syndrome. Using high resolution molecular karyotyping, we identified two intragenic de novo frameshift deletions, likely resulting in haploinsufficiency, in two patients with a similar phenotype of hypotonia, moderate ID, conotruncal heart defect and facial anomalies. In both, Sanger sequencing of MED13L did not reveal any pathogenic mutation and exome sequencing in one patient showed no evidence for a non-allelic second hit. A further patient with hypotonia, learning difficulties and perimembranous VSD showed a 1 Mb de novo triplication in 12q24.2, including MED13L and MAP1LC3B2. Our findings show that MED13L haploinsufficiency in contrast to the previously observed missense mutations cause a distinct syndromic phenotype. Additionally, a MED13L copy number gain results in a milder phenotype. The clinical features suggesting a neurocristopathy may be explained by animal model studies indicating involvement of the Mediator complex subunit 13 in neural crest induction.
| S-EPMC3778355 | biostudies-literature
Project description:BackgroundCongenital heart defects are the most common type of birth defects and bring a heavy disease burden in China. Examining the temporal and spatial trends of congenital heart defects epidemics can give some elementary knowledge for succeeding studies.ObjectiveTo characterize the spatial-temporal patterns of the prevalence of congenital heart defects based on a substantial cohort of the perinatal fetus in south China in 2016-2020.MethodsThis study was a retrospective population-based cohort study conducted in Guangdong, China from 2016 to 2020. Pregnant women and their infants received birth defect surveillance during pregnancy and seven days after delivery in more than 1,900 midwifery hospitals in 21 cities. Perinatal infants with congenital heart defects were identified and enrolled. The prevalence of congenital heart defects was calculated according to cities, years, urban and rural areas, regions of Guangdong, categories of maternal age at delivery, seasons of delivery, and infant's gender.ResultsA total of 8,653,206 perinatal infants and 53,912 total congenital heart defects were monitored in Guangdong, including 46,716 (86.65%) without other defects and 7,736 (13.35%) with other defects. The average prevalence of total congenital heart defects was 62.30/10,000 (95% CI, 61.78/10,000-62.83/10,000), congenital heart defects without other defects was 53.36/10,000 (95% CI, 52.88/10,000-53.85/10,000), and congenital heart defects with other defects was 8.94/10,000 (95%CI, 8.74/10,000-9.14/10,000). From 2016 to 2020, the prevalence of total congenital heart defects was 54.92/10,000, 54.23/10,000, 63.79/10,000, 73.11/10,000, 68.20/10,000, respectively. We observed geographical variations within the prevalence of congenital heart defects. The prevalence of congenital heart defects was much higher in the Pearl River Delta region than in the non-Pearl River Delta region, as well as higher in urban areas than in rural areas.ConclusionThe findings of this study are helpful to the understanding of the etiology and epidemiology characteristics of congenital heart defects in south China. Our data likely reflect a better estimate of the spatiotemporal trends in congenital heart defects prevalence than reported previously.
| S-EPMC9086594 | biostudies-literature
Project description:BackgroundObesity is more prevalent for disabled people (estimated as being between 27-62%) compared to the general population (17-22%). Disabled people are more likely to report poorer general health and acquire a range of obesity-related secondary conditions. Although there are many physical activity and nutrition initiatives aimed at obesity prevention, little is known about whether these options are relevant and accessible for disabled people. The Living Well Study aimed to better understand the issues faced by disabled people when engaging in physical activity and healthy eating.MethodsThe study drew on a participatory action research design involving key stakeholders. There were two core cyclical phases (A and B), in which data collection was followed by a period of analysis, reflection and refinement. Focus groups and interviews were held with individuals who experience a range of disabilities, family members, service providers and representatives from disability advocacy groups. We sought to explore the importance and meaning of physical activity and healthy eating and factors that influenced engagement in these. Data in phase A were analysed using conventional content analysis drawing on constant comparative methods to identify themes of importance. In phase B, data analysis occurred alongside data collection, using a structured template to summarise participants' agreement or disagreement with the draft themes and recommendations, until the themes and recommendations were refined based on participants' corroboration.Results146 participants aged between 10-69 years, from both rural and urban areas and of different cultural backgrounds participated. Seven interconnecting themes that related to engagement in living well behaviours emerged with a wide range of external factors (such as people, knowledge, time, cost, identity and the environment) impacting on living well options. The central theme - It depends: needs, values and competing factors - emphasised the complexity faced by a disabled person when balancing the external factors with their own personal values and needs in order to arrive at a decision to engage in healthy living behaviours.ConclusionsAlthough disabled people experience similar issues when participating in healthy living behaviours as those living without disability, additional factors need to be addressed in order to improve opportunities for 'living well' in these populations. This information has implications for health professionals to target the relevance and content of interventions.
| S-EPMC3765294 | biostudies-literature
Project description:BackgroundAdvances in the management of congenital heart disease (CHD) patients have enabled improvement in long-term survival even for those with serious defects. Research priorities (for patients, families and clinicians) have shifted from a focus on how to improve survival to exploring long-term outcomes in patients with CHD. A comprehensive appraisal of available evidence could inform best practice to maximize health and well-being, and identify research gaps to direct further research toward patient and clinical need. We aimed to critically appraise all available published systematic reviews of health and well-being outcomes in adult patients with CHD.MethodsWe conducted an umbrella review, including any systematic reviews that assessed the association of having vs. not having CHD with any long-term health (physical or mental), social (e.g., education, occupation) or well-being [e.g., quality of life (QoL)] outcome in adulthood (≥18-years).ResultsOut of 1330 articles screened, we identified five systematic reviews of associations of CHD with adult outcomes. All but one (which studied QoL) explored health outcomes: one cardiovascular, two mental, and one mortality after transplant. CHD patients had a higher risk of stroke, coronary heart disease and heart failure, with the pooled relative risk (RR) for any outcome of 3.12 (95% CI: 3.01 to 3.24), with substantial heterogeneity (I2 = 99%) explained by the outcome being studied (stronger association for heart failure) and geography (stronger in Europe compared with other regions). CHD patients had a higher risk of anxiety (OR = 2.58 (1.45 to 4.59)], and higher mean scores for depression/anxiety symptoms (difference in means = -0.11 SD (-0.28 to 0.06), I2 = 94%)]. Compared with patients having a cardiac transplant for other (non-CHD) diseases, CHD patients had higher short-term mortality (RR at 30-days post-transplant = 2.18 [1.62 to 2.93)], with moderate heterogeneity (I2 = 41%) explained by previous surgery (higher mortality with prior Fontan/Glenn operation). All domains of QoL were lower in patients with Fontan's circulation than non-CHD adults.ConclusionAdults with CHD have poorer cardiovascular, mental health and QoL outcomes, and higher short-term mortality after transplant. The paucity of systematic reviews, in particular for outcomes such as education, occupation and lifestyles, highlights the need for this to be made a priority by funders and researchers.Systematic review registration[www.crd.york.ac.uk/prospero], identifier [CRD42020175034].
| S-EPMC9226339 | biostudies-literature
Project description:Incomplete penetrance of congenital heart defects (CHDs) was observed in a mouse model. We hypothesized that the contribution of a major genetic locus modulates the manifestation of the CHDs. After genome-wide linkage mapping, fine mapping, and high-throughput targeted sequencing, a recessive frameshift mutation of the heterogeneous nuclear ribonucleoprotein A1 (Hnrnpa1) gene was confirmed (Hnrnpa1ct). Hnrnpa1 was expressed in both the first heart field (FHF) and second heart field (SHF) at the cardiac crescent stage but was only maintained in SHF progenitors after heart tube formation. Hnrnpa1ct/ct homozygous mutants displayed complete CHD penetrance, including truncated and incomplete looped heart tube at E9.5, ventricular septal defect (VSD) and persistent truncus arteriosus (PTA) at E13.5, and VSD and double outlet right ventricle at P0. Impaired development of the dorsal mesocardium and sinoatrial node progenitors was also observed. Loss of Hnrnpa1 expression leads to dysregulation of cardiac transcription networks and multiple signaling pathways, including BMP, FGF, and Notch in the SHF. Finally, two rare heterozygous mutations of HNRNPA1 were detected in human CHDs. These findings suggest a role of Hnrnpa1 in embryonic heart development in mice and humans.
| S-EPMC5821217 | biostudies-literature
Project description:Importance:Subjective well-being is associated with reduced mortality, but it is not clear whether additional time is spent in good health or with chronic disease and disability. Objective:To evaluate the associations between affective well-being, total life expectancy, and life expectancy free of disability and chronic disease. Design, Setting, and Participants:This survey study used data on 9761 participants from the English Longitudinal Study of Ageing who were followed up for a maximum of 10 years (mean [SD] follow-up, 6 [3.7] years). Discrete-time multistate life table models were used to estimate total life expectancy and life expectancy free of disability or chronic disease. Data were collected between March 2002 and March 2013 and analyzed from December 2018 to April 2019. Analyses were adjusted for wealth and cohabiting status. Main Outcomes and Measures:The main outcome was life expectancy free of disability and chronic disease. Affective well-being was assessed at baseline as a combination of enjoyment of life and the lack of significant depressive symptoms. Disability was measured in terms of impaired activities of daily living and instrumental activities of daily living, and chronic disease as the occurrence of 6 serious illnesses. Results:Data were analyzed from 9761 participants (5297 [54%] female; mean [SD] age at baseline, 64 [9.9] years). High affective well-being was associated with longer life expectancy and with longer disability-free and chronic disease-free life expectancies. For example, a woman aged 50 years who reported high affective well-being could expect to live 6 years longer than a woman of similar age with low well-being; 31.4 of her remaining years (95% CI, 30.5-31.9 years) would be likely to be free of disability, compared with 20.8 years (95% CI, 20.1-22.1 years) for a woman with low affective well-being. A man aged 50 years with high affective well-being could expect to live 20.8 years (95% CI, 18.7-22.4 years) without chronic disease, compared with 11.4 years (95% CI, 8.5-14.6 years) for a man reporting low well-being. Similar patterns were observed at the ages of 60, 70, and 80 years. Conclusions and Relevance:This study suggests that people who report high levels of subjective well-being live longer and also healthier lives than those with lower well-being. These findings add weight to endeavors to promote the subjective well-being of older people.
| S-EPMC6624816 | biostudies-other
Project description:The importance of promoting well-being for healthcare professionals has never been as important as during the current coronavirus disease 2019 pandemic. It is recognized that the concept of well-being is a multifaceted phenomenon which is influenced by individual, team, and system characteristics. We outline an approach to practically initiating supportive strategies within the PICU using a well-being approach to improve baseline resilience alongside an acute rescue strategy utilizing a peer-support network. These strategies are practical interventions and we share them with the aim of encouraging the international PICU community to use these or other strategies to support their teams. We encourage shared learning and collaboration during these difficult times.
| S-EPMC7402608 | biostudies-literature