Substantial Cardiovascular Morbidity in Adults With Lower-Complexity Congenital Heart Disease

Saha, Priyanka; Potiny, Praneetha; Rigdon, Joseph; Morello, Melissa L.; Tcheandjieu, Catherine; Romfh, Anitra; Fernandes, Susan M.; McElhinney, Doff B.; Bernstein, Daniel; Lui, George K.; Shaw, Gary M.; Ingelsson, Erik; Priest, James R.

doi:10.1161/circulationaha.118.037064

Cited by 87 publications

(68 citation statements)

References 50 publications

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“…In fact, currently there are more adult CHD patients then children born every year with CHD in the United States (Gilboa et al, 2016). However, as adult CHD patients continue to suffer high morbidity, this has created new challenges with the management of clinical care for adult CHD patients (Marelli, Miller, Marino, Jefferson, & Newburger, 2016;Saha et al, 2019).…”

Section: Critical Congenital Heart Diseasementioning

confidence: 99%

Left–right patterning in congenital heart disease beyond heterotaxy

Gabriel

2020

American J of Med Genetics Pt C

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Congenital heart defect is one of the most common structural birth defects in the human population. It is highly associated with heterotaxy, a birth defect involving randomized left–right patterning of visceral organ situs. Large scale mouse forward genetics have led to the finding of a central role for cilia in CHD pathogenesis, with some cilia and non‐cilia mutations causing CHD with heterotaxy. Interestingly, many of the mutations causing CHD with heterotaxy can give rise to three laterality outcomes comprising normal situs solitus, mirror symmetric situs inversus totalis, or randomized situs with heterotaxy. Given CHD is largely observed only with heterotaxy, this suggests a new paradigm is needed for investigating the genetics of CHD associated with heterotaxy. Furthermore, analysis of data from multiple large birth cohorts have independently confirmed a broader involvement of laterality disturbance in CHD. This was demonstrated by the common cooccurrence of rare laterality defects with CHD lesions of a wide spectrum. These findings suggest left–right patterning is tightly intertwined with the developmental processes that regulate cardiac morphogenesis and its disturbance may contribute to all types of CHD even in the absence of laterality defects.

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Section: Critical Congenital Heart Diseasementioning

confidence: 99%

Left–right patterning in congenital heart disease beyond heterotaxy

Gabriel

2020

American J of Med Genetics Pt C

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“…Using the classification schema shown in Figure 2, ICD9, ICD10, OPCS-4 and selfreported illness and operation codes were used to classify 2792 UK Biobank samples as having CVM and 472,378 samples as controls in a similar protocol to Saha et al 32 .…”

Section: Cvm Classificationmentioning

confidence: 99%

Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ∼500,000 UK Biobank individuals

Nakev

Guo

et al. 2019

Preprint

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BackgroundDeletion of a non-imprinted 500Kb genomic region at chromosome 15q11.2, between breakpoints 1 and 2 of the Prader-Willi/Angelman locus (BP1-BP2 deletion) has been associated in previous studies with phenotypes including developmental delay, autism, schizophrenia and congenital cardiovascular malformations (CVM). The deletion has a low baseline population prevalence and large-scale data regarding the magnitude of these associations and any milder effects on cognition phenotypes, in populations not selected for disease, are limited. MethodsUsing the UK Biobank (UKB) cohort of ~500,000 individuals, we identified individuals with neuropsychiatric and CVM diagnoses and investigated their association with deletions at the BP1-BP2 locus. In addition we assessed the association of BP1-BP2 deletions with cognitive function and academic achievement in individuals with no previous diagnosis. Results Casesof neurodevelopmental and CVM disease had an increased prevalence of the deletion compared to controls (0.68%; OR=1.84 [95% CI 1.23 -2.75]; p=0.004 and 0.64%; OR=1.73 [95% CI 1.08 -2.75]; p=0.03 respectively). Excluding participants diagnosed with neurodevelopmental or neuropsychiatric disease, deletion carriers had worse scores in four tests of cognitive function, and while 32.8% of UKB participants without BP1-BP2 deletion had a university or college degree as their highest educational qualification, only 22.8% of deletion carriers achieved this (OR 0.57 [95% CI 0.51-0.64]; p=5.60E-22). ConclusionsWe conclude that BP1-BP2 deletion has an appreciable population prevalence with important life-course impacts on undiagnosed carriers. These data are of potential utility in deciding the circumstances under which clinical testing for BP1-BP2 deletion may be helpful. Key messages• Deletions at chromosome 15q11.2 between breakpoints 1 and 2 (BP1-BP2), which encompass four genes, have been associated with developmental delay, autism, schizophrenia and congenital cardiovascular malformations.• Here, we use the largest cohort studied to date: the UK Biobank cohort of ~500,000 individuals, to explore the association of this deletion with neuropsychiatric and cardiovascular phenotypes as well as its effects on cognitive function and academic achievement.• We find an appreciable population prevalence of the deletion with these phenotypes and demonstrate reduced cognitive function and lower academic achievements in those individuals with no prior diagnosis.

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“…[5,6] Indeed, more than 30% of adults with a CHD are lost to follow-up despite a signi cant risk of arrhythmia, heart failure, pulmonary hypertension and acquired cardiovascular diseases. [7,8] Even patients with lower-complexity CHD are concerned with a higher burden of adverse cardiovascular events relative to the general population. [7] Some lost to follow-up adult patients with a CHD reintegrate the healthcare system for administrative issues: they may be referred to an expert CHD centre by an occupational medicine physician, or when taking out a bank loan by an insurance service.…”

Section: Introductionmentioning

confidence: 99%

“…[7,8] Even patients with lower-complexity CHD are concerned with a higher burden of adverse cardiovascular events relative to the general population. [7] Some lost to follow-up adult patients with a CHD reintegrate the healthcare system for administrative issues: they may be referred to an expert CHD centre by an occupational medicine physician, or when taking out a bank loan by an insurance service. Lost to follow-up female CHD patients are frequently referred by obstetricians in early pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Impact of a Transition Education Program on the Quality of Life in Pediatric Patients with Congenital Heart Disease: Study Design for a Randomised Controlled Trial

Werner¹,

Bredy²,

Lavastre³

et al. 2020

Preprint

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Background: Recent advances in the field of congenital heart disease (CHD) led to an improved prognosis of the patients and in consequence the growth of a new population: the grown up with congenital heart disease. Until recently, more than 50% of these patients were lost to follow up because of the lack of specialized structures. The critical moment is the transition between paediatric and adult unit. Therapeutic education is crucial to solve this issue by helping patient to become independent and responsible. The TRANSITION randomized trial aims to assess the impact of a transition education program on the quality of life (QoL) of adolescents and young adults with CHD. Methods: multicentre, randomised, controlled, parallel arm study in CHD patients aged from 13 to 25 years old. Patients will be randomised into 2 groups (Education program vs. no intervention). The primary outcome is the change in self-reported QoL between baseline and 12-month follow-up. A total of 100 patients in each group is required to observe a significant increase of the overall QoL score of 7±13.5 points (on 100) with a power of 80% and an alpha risk of 5%. The secondary outcomes are: clinical outcomes, cardiopulmonary exercise test parameters (VO2max,VE/VCO2 slope), level of knowledge, physical and psychological status.Discussion: As the current research is opening on patient related outcomes, and as the level of proof in therapeutic education still low, we sought to assess the efficacy of a therapeutic education program on the QoL of CHD patients with a randomized trial.Trial registration: This study was approved by the National Ethics Committee (South-Mediterranean IV 2016-A01681-50) and was registered on Clinicaltrials.gov (NCT03005626) on 29th December 2016

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Substantial Cardiovascular Morbidity in Adults With Lower-Complexity Congenital Heart Disease

Cited by 87 publications

References 50 publications

Left–right patterning in congenital heart disease beyond heterotaxy

Left–right patterning in congenital heart disease beyond heterotaxy

Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ∼500,000 UK Biobank individuals

Impact of a Transition Education Program on the Quality of Life in Pediatric Patients with Congenital Heart Disease: Study Design for a Randomised Controlled Trial

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