Heart-Focused Anxiety Is Prevalent in Adults With Congenital Heart Disease and Associated With Reduced Exercise Capacity

Willinger, Laura; Hock, Julia; Hager, Alfred; Oberhoffer‐Fritz, Renate; Ewert, Peter; Müller, Jan

doi:10.1097/hcr.0000000000000763

Cited by 3 publications

(3 citation statements)

References 28 publications

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“…These cross-sectional findings by Willinger et al 14 indicate a need for individualised activity advice to families who have children with CHD, as this may empower parents and significant others to promote activity. The evidence from paediatric and adult CHD cohort studies [15][16][17] and meta-analyses of physical activity interventions and exercise testing 4,18 show the risk of cardiac events (i.e., arrhythmia and sudden cardiac death) during activity/exercise is unlikely and the benefits of activity outweigh the risks.…”

Section: Introductionmentioning

confidence: 96%

“…13 Moreover, people with CHD and heart-focused anxiety may be less likely to perform activity due to concerns about symptoms and deterioration of their condition. Recent data provided by Willinger et al 14 states that adults with CHD (n = 984) had significantly higher heart-focused anxiety compared to the general population, and increased heartfocused anxiety was significantly correlated with lower cardiorespiratory fitness (r = −0.28, P < 0.001), independent of CHD diagnosis, CHD severity, and surgical status.…”

Section: Introductionmentioning

confidence: 97%

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Parental recommendations and exercise attitudes in congenital hearts

Wadey,

Leggat,

Potter

et al. 2023

Cardiol Young

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Background: Children and young people with CHD benefit from regular physical activity. Parents are reported as facilitators and barriers to their children’s physical activity. The aim of this study was to explore parental factors, child factors, and their clinical experience on physical activity participation in young people with CHD. Methods: An online questionnaire was co-developed with parents (n = 3) who have children with CHD. The survey was then distributed in the United Kingdom by social media and CHD networks, between October 2021 and February 2022. Data were analysed using mixed methods. Results: Eighty-three parents/guardians responded (94% mothers). Young people with CHD were 7.3 ± 5.0 years old (range 0–20 years; 53% female) and 84% performed activity. Parental participation in activity (X2(1) = 6.9, P < 0.05) and perceiving activity as important for their child were positively associated with activity (Fisher’s Exact, P < 0.05). Some parents (∼15%) were unsure of the safety of activity, and most (∼70%) were unsure where to access further information about activity. Fifty-two parents (72%) had never received activity advice in clinic, and of the 20 who received advice, 10 said it was inconsistent. Qualitative analysis produced the theme “Knowledge is power and comfort.” Parents described not knowing what activity was appropriate or the impact of it on their child. Conclusion: Parental participation and attitudes towards activity potentially influence their child’s activity. A large proportion of young people performed activity despite a lack and inconsistency of activity advice offered by CHD clinics. Young people with CHD would benefit from activity advice with their families in clinics.

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Section: Introductionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 97%

Parental recommendations and exercise attitudes in congenital hearts

Wadey,

Leggat,

Potter

et al. 2023

Cardiol Young

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“…As a global pediatric concern, congenital heart defects comprise a wide spectrum of cardiovascular developmental defects, which are categorized into >25 distinct clinical subtypes, including tetralogy of Fallot (TOF) (1). Although certain minor congenital heart defects spontaneously resolve, severe congenital heart disease may lead to poor health and quality of life (5)(6)(7)(8), diminished physical exercise capacity (9)(10)(11)(12)(13), impaired neurodevelopment (the most prevalent extracardiac manifestation in patients with a congenital heart defect) and brain damage (14)(15)(16)(17)(18), thromboembolic complications (19)(20)(21), acute renal injury and chronic kidney disease (22)(23)(24), hepatic dysfunction (25), pulmonary arterial hypertension (26)(27)(28), infective endocarditis (29)(30)(31), congestive cardiac failure (32)(33)(34), miscellaneous cardiac dysrhythmia (35)(36)(37) and cardiovascular demise (38)(39)(40). Improvement has been made in cardiovascular surgery and transcatheter interventional treatment, which has allowed >90% of children with congenital heart defects to survive to adulthood; adults living with various congenital heart defects outnumber children affected by congenital heart defects (41)…”

Section: Introductionmentioning

confidence: 99%

Somatic GATA4 mutation contributes to tetralogy of Fallot

Abhinav,

Li,

Huang

et al. 2024

Exp Ther Med

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Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart pathology and causes infant morbidity and mortality worldwide. GATA-binding protein 4 (GATA4) serves as a pivotal transcriptional factor for embryonic cardiogenesis and germline GATA4 mutations are causally linked to TOF. However, the effects of somatic GATA4 mutations on the pathogenesis of TOF remain to be ascertained. In the present study, sequencing assay of GATA4 was performed utilizing genomic DNA derived from resected heart tissue specimens as well as matched peripheral blood specimens of 62 patients with non-familial TOF who underwent surgical treatment for TOF. Sequencing of GATA4 was also performed using the heart tissue specimens as well as matched peripheral venous blood samples of 68 sporadic cases who underwent heart valve displacement because of rheumatic heart disorder and the peripheral venous whole blood samples of 216 healthy subjects. The function of the mutant was explored by dual-luciferase activity analysis. Consequently, a new GATA4 mutation, NM_002052.5:c.708T>G;p.(Tyr236*), was found in the heart tissue of one patient with TOF. No mutation was detected in the heart tissue of the 68 cases suffering from rheumatic heart disorder or in the venous blood samples of all 346 individuals. GATA4 mutant failed to transactivate its target gene, myosin heavy chain 6. Additionally, this mutation nullified the synergistic transactivation between GATA4 and T-box transcription factor 5 or NK2 homeobox 5, two genes causative for TOF. Somatic GATA4 mutation predisposes TOF, highlighting the significant contribution of somatic variations to the molecular pathogenesis underpinning TOF.

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