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Maternal and fetal outcomes in pregnancies complicated by the inherited aortopathy Loeys Dietz Syndrome.

BJOG. 2019 Feb 27;:

Authors: Cauldwell M, Steer PJ, Curtis S, Mohan AR, Dockree S, Mackillop L, Parry H, Oliver J, Sterrenburg M, Bolger A, Siddiqui F, Simpson M, Walker N, Bredaki F, Walker F, Johnson MR

Abstract
OBJECTIVE: Pregnancies in women with Loeys Dietz Syndrome (LDS) are rare, and typically documented in case reports only. Early reports suggested high rates of maternal complications during pregnancy and the puerperium, including aortic dissection and uterine rupture, but information on fetal outcomes was very limited.
DESIGN: A retrospective cohort study.
SETTING: 8 specialist UK centres.
SAMPLE: Pregnant women with LDS.
METHODS: Data was collated on cardiac, obstetric and neonatal outcomes.
MAIN OUTCOME MEASURES: Maternal and perinatal outcomes in pregnancies complicated by LDS.
RESULTS: 20 pregnancies in 13 women with LDS were identified. There was one miscarriage, one termination of pregnancy and 18 livebirths. In 8 women the diagnosis was known prior to pregnancy but only one woman had preconception counselling. In 4 women the diagnosis was made during pregnancy through positive genotyping, and the other was diagnosed following delivery. Five women had a family history of aortic dissection. There were no aortic dissections in our cohort during pregnancy or postpartum. Obstetric complications were common, including postpartum haemorrhage (33%) and preterm delivery (50%). 14/18 (78%) of deliveries were by elective caesarean section, at a median gestational age at delivery of 37 weeks. Over half the infants (56%) were admitted to the neonatal unit following delivery.
CONCLUSION: Women with LDS require multidisciplinary specialist management throughout pregnancy. Women should be referred for preconception counselling to make informed decisions around pregnancy risk and outcomes. Early elective preterm delivery needs to be balanced against a high infant admission rate to the neonatal unit This article is protected by copyright. All rights reserved.

PMID: 30811810 [PubMed - as supplied by publisher]

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A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.

Am J Med Genet A. 2018 03;176(3):609-617

Authors: Nembhard WN, Tang X, Li J, MacLeod SL, Levy J, Schaefer GB, Hobbs CA, National Birth Defects Prevention Study

Abstract
The association between conotruncal heart defects (CTHDs) and maternal genetic and environmental exposures is well studied. However, little is known about paternal genetic or environmental exposures and risk of CTHDs. We assessed the effect of paternal genetic variants in the folate, homocysteine, and transsulfuration pathways on risk of CTHDs in offspring. We utilized National Birth Defects Prevention Study data to conduct a family-based case only study using 616 live-born infants with CTHDs, born October 1997-August 2008. Maternal, paternal and infant DNA was genotyped using an Illumina® Golden Gate custom single nucleotide polymorphism (SNP) panel. Relative risks (RR) and 95% confidence intervals (CI) from log-linear models determined parent of origin effects for 921 SNPs in 60 candidate genes involved in the folate, homocysteine, and transsulfuration pathways on risk of CTHDs. The risk of CTHD among children who inherited a paternally derived copy of the A allele on GLRX (rs17085159) or the T allele of GLRX (rs12109442) was 0.23 (95%CI: 0.12, 0.42; p = 1.09 × 10-6 ) and 0.27 (95%CI: 0.14, 0.50; p = 2.06 × 10-5 ) times the risk among children who inherited a maternal copy of the same allele. The paternally inherited copy of the GSR (rs7818511) A allele had a 0.31 (95%CI: 0.18, 0.53; p = 9.94 × 10-6 ] risk of CTHD compared to children with the maternal copy of the same allele. The risk of CTHD is less influenced by variants in paternal genes involved in the folate, homocysteine, or transsulfuration pathways than variants in maternal genes in those pathways.

PMID: 29399948 [PubMed - indexed for MEDLINE]

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[The change in mortality and major causes of death among Chinese adolescents from 1990 to 2016].

Zhonghua Yu Fang Yi Xue Za Zhi. 2018 Aug 06;52(8):802-808

Authors: Xu RB, Wen B, Song Y, Luo DM, Dong YH, Dong B, Ma J

Abstract
Objective: To analyze the change in mortality and major causes of death among Chinese adolescents aged 10-19 years from 1990 to 2016. Methods: Data of death for Chinese adolescents aged 10-19 years were extracted from the Global Burden of Disease Study 2016 (GBD 2016). The data was used to describe the change in mortality of Chinese adolescents from 1990 to 2016.Top 15 causes of death were compared between 1990 and 2016. Results: From 1990 to 2016, the all-cause mortality of Chinese adolescents aged 10-19 years old dropped from 102.5/100 000 to 41.2/100 000, reaching about a half of the global average (78.6/100 000) but still almost twice as high as the average of high-income countries (24.3/100 000) by 2016; the reduction in mortality was higher among females than that among males (decreased 68.7% vs. 54.7%), and among adolescents aged 10-14 years than that among those aged 15-19 years (decreased 62.1% vs. 57.1%). During the 26-year period, the cause-specific mortality of all top 15 causes saw sharp decreases. Among them, communicable, maternal, and nutritional diseases saw the most significant decrease (78.1%), and its proportion in all adolescent deaths fell from 11.1% to 6.1%. Meanwhile, non-communicable diseases and injuries saw relatively small decreases (58.2% and 57.3% respectively), and their proportions rose from 33.4% and 55.6% to 34.8% and 59.1%, respectively. The top 5 causes of death changed from drowning (17.39/100 000 in mortality, 17.0% in proportion), road injuries (14.77/100 000, 14.4%), self-harm (11.44/100 000, 11.2%), leukemia (5.48/100 000, 5.4%) and interpersonal violence (3.12/100 000, 3.0%) in1990 into road injuries (9.27/100 000, 22.5%), drowning (6.83/100 000, 16.6%), leukemia(2.73/100 000, 6.6%), self-harm (2.53/100 000, 6.2%) and congenital birth defects (1.76/100 000, 4.3%) in 2016, and tuberculosis, poisonings and rheumatic heart disease had dropped out of the top 15 in 2016. Conclusion: The mortality of Chinese adolescents aged 10-19 years has decreased significantly, but still higher than developed countries. Since 1990, injuries,especially for road injuries and drowning, have always been the leading causes of death among Chinese adolescents aged 10-19 years, followed by non-communicable diseases.

PMID: 30107713 [PubMed - indexed for MEDLINE]

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Substantial Cardiovascular Morbidity in Adults with Lower-Complexity Congenital Heart Disease.

Circulation. 2019 Feb 28;:

Authors: Saha P, Potiny P, Rigdon J, Morello M, Tcheandjieu C, Romfh A, Fernandes SM, McElhinney DB, Bernstein D, Lui GK, Shaw GM, Ingelsson E, Priest JR

Abstract
BACKGROUND: Although lower-complexity cardiac malformations constitute the majority of adult congenital heart disease (ACHD), the long-term risks of adverse cardiovascular events and relationship with conventional risk factors in this population are poorly understood. We aimed to quantify the risk of adverse cardiovascular events associated with lower-complexity ACHD that is unmeasured by conventional risk factors.
METHODS: A multi-tiered classification algorithm was used to select individuals with lower-complexity ACHD and individuals without ACHD for comparison amongst >500,000 British adults in the UK Biobank (UKB). ACHD diagnoses were sub-classified as "isolated aortic valve (AoV)" and "non-complex" defects. Time-to-event analyses were conducted for primary endpoints of fatal or non-fatal acute coronary syndrome (ACS), ischemic stroke, heart failure (HF), and atrial fibrillation, and a secondary combined endpoint for major adverse cardiovascular event (MACE). Maximum follow-up time for the study period was 22 years using retrospectively and prospectively collected data from the UKB.
RESULTS: We identified 2,006 individuals with lower-complexity ACHD and 497,983 unexposed individuals in the UKB (median [IQR] age at enrollment 58 [51,63]). Of the ACHD-exposed group, 59% were male; 51% were current or former smokers; 30% were obese; 69%, 41%, and 7% were diagnosed or treated for hypertension, hyperlipidemia, and diabetes respectively. After adjustment for 12 measured cardiovascular risk factors, ACHD remained strongly associated with the primary endpoints, with hazard ratios (HR) ranging from 2.0 (95% confidence interval [CI] 1.5-2.8, p<0.001) for ACS to 13.0 (95% CI 9.4-18.1, p<0.001) for HF. ACHD-exposed individuals with ≤2 cardiovascular risk factors had a 29% age-adjusted incidence rate of MACE in contrast to 13% in non-ACHD individuals with ≥5 risk factors.
CONCLUSIONS: Individuals with lower-complexity ACHD had higher burden of adverse cardiovascular events relative to the general population that was unaccounted for by conventional cardiovascular risk factors. These findings highlight the need for closer surveillance of patients with mild to moderate ACHD and further investigation into management and mechanisms of cardiovascular risk unique to this growing population of high-risk adults.

PMID: 30813762 [PubMed - as supplied by publisher]

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Left Atrial Wall Trauma Causing Intracardiac Thrombus After Device Closure of Patent Foramen Ovale.

Circ Cardiovasc Imaging. 2019 Mar;12(3):e008720

Authors: Small AJ, Denton KL, Aboulhosn JA

PMID: 30813771 [PubMed - in process]

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A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A.

Sci Rep. 2019 Feb 27;9(1):2959

Authors: Demal TJ, Heise M, Reiz B, Dogra D, Brænne I, Reichenspurner H, Männer J, Aherrahrou Z, Schunkert H, Erdmann J, Abdelilah-Seyfried S

Abstract
The genetics of many congenital heart diseases (CHDs) can only unsatisfactorily be explained by known chromosomal or Mendelian syndromes. Here, we present sequencing data of a family with a potentially multigenic origin of CHD. Twelve of nineteen family members carry a familial mutation [NM_004329.2:c.1328 G > A (p.R443H)] which encodes a predicted deleterious variant of BMPR1A. This mutation co-segregates with a linkage region on chromosome 1 that associates with the emergence of severe CHDs including Ebstein's anomaly, atrioventricular septal defect, and others. We show that the continuous overexpression of the zebrafish homologous mutation bmpr1aap.R438H within endocardium causes a reduced AV valve area, a downregulation of Wnt/ß-catenin signalling at the AV canal, and growth of additional tissue mass in adult zebrafish hearts. This finding opens the possibility of testing genetic interactions between BMPR1A and other candidate genes within linkage region 1 which may provide a first step towards unravelling more complex genetic patterns in cardiovascular disease aetiology.

PMID: 30814609 [PubMed - in process]

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Electronic health record associated stress: A survey study of adult congenital heart disease specialists.

Congenit Heart Dis. 2019 Mar 01;:

Authors: Marckini DN, Samuel BP, Parker JL, Cook SC

Abstract
BACKGROUND: Physician burnout has many undesirable consequences, including negative impact on patient care delivery and physician career satisfaction. Electronic health records (EHRs) may exacerbate burnout by increasing physician workload.
OBJECTIVE: To determine burnout in adult congenital heart disease (ACHD) specialists by assessing stress associated with EHRs.
DESIGN: Electronic survey study of ACHD providers.
SETTING: Canada and United States.
PARTICIPANTS: Three hundred eighty-three ACHD specialists listed on the Adult Congenital Heart Association directory between February and April 2017.
OUTCOME MEASURES: Burnout was measured using the Maslach Burnout Inventory (MBI) to understand factors contributing to work life and EHR satisfaction. Chi-square and Wilcoxon Rank Sum tests were used for statistical analysis.
RESULTS: Of the 383 invited participants, 110 (28.7%) completed surveys with the majority (n = 88, 80.7%) reporting from an academic medical center. Burnout was defined as high scores on the emotional exhaustion and/or depersonalization MBI subscales. When comparing the 40% (n = 44) that met criteria for burnout with those that did not, there was strong disagreement that a reasonable amount of time is spent on clerical tasks related to direct (P = .0043) or indirect (P = .0004) patient care. There was strong disagreement that EHRs increased efficiency (P = .006) or the patient portal improved patient care (P = .0215). Finally, physicians who met criteria for burnout had lower personal accomplishment scores (P = .0355).
CONCLUSIONS: Our results suggest time spent on EHRs creates clerical burden exacerbating ACHD physician burnout. The high levels of emotional exhaustion may decrease quality of ACHD care by directing focus away from physician-patient interaction. Health care systems must develop best practice for EHR design and implementation to optimize patient advocacy and care, and decrease physician burnout.

PMID: 30825270 [PubMed - as supplied by publisher]

Lifelong burden of small unrepaired atrial septal defect: Results from the Danish National Patient Registry.

Int J Cardiol. 2019 Feb 16;:

Authors: Udholm S, Nyboe C, Karunanithi Z, Christensen AI, Redington A, Nielsen-Kudsk JE, Hjortdal VE

Abstract
BACKGROUND: Adult patients with small, unrepaired atrial septal defects (ASD) have higher late mortality than the background population. In this nationwide study, we characterize the late natural history of adults with small, unrepaired ASD.
METHODS: Using the Danish National Patient Registry, we included all Danish patients, diagnosed between 1953 and 2011 with an unrepaired ASD. Additionally, all patients, aged 18-65, were invited for clinical testing. Patients also completed a general health survey for comparison with the general population.
RESULTS: We identified 723 patients with a small unrepaired ASD. Since the time of diagnosis, 182 patients had died, with an average lifespan of 63 years. The most common cause of death was heart failure. Furthermore, ASD patients had a higher burden of chronic disease than the general population (38.2% vs. 26.9%; p = 0.005), particularly lung disease (3.6% vs. 0.9%; p = 0.008). A total of 153 patients (mean age 32 y) underwent additional testing. On echocardiography an open defect was verified in 19.6% (n = 30) of the patients, of which half subsequently underwent intervention. Interestingly, 6-minute walking distance was markedly reduced (p < 0.0001 compared to normative values) no matter whether the defect was open or closed by echocardiography. Finally, 25.5% of the patients often felt stressed or nervous as compared with 16.3% of the general population (p = 0.004).
CONCLUSIONS: Patients with small, unrepaired ASD in adult life have reduced lifespan, more chronic diseases, impaired submaximal exercise capacity, and higher levels of stress than the general population. The current guidelines for intervention and follow-up may need to be reconsidered.

PMID: 30826194 [PubMed - as supplied by publisher]

Living With, and Caring for, Congenital Heart Disease in Australia: Insights From the Congenital Heart Alliance of Australia and New Zealand Online Survey.

Heart Lung Circ. 2019 Jan 24;:

Authors: Strange G, Stewart S, Farthing M, Kasparian NA, Selbie L, O'Donnell C, Ayer J, Cordina R, Celermajer D

Abstract
BACKGROUND: There is a paucity of data describing the day-to-day experiences of adult Australians personally living with or caring for a child born with congenital heart disease (CHD). Such data would be of great practical importance to inform health care initiatives to improve outcomes.
METHODS: 588 men (38.3 ± 11.9 years) and women (39.6 ± 12.6 years, 78% of respondent patients) living with CHD and 1,091 adult carers (93% mothers) of children with CHD (median age 7.3 [IQR 3.5-13.3 years], 54% male), representing all Australian states and territories, responded to a comprehensive online survey designed and hosted by the Congenital Heart Alliance of Australia and New Zealand. Data on demographic factors, the nature of underlying CHD, interactions with health care services, psychological wellbeing and wider impacts of CHD were collected.
RESULTS: Most respondents were able to identify the type of CHD they (29% with a simple lesion such atrial septal defect, 17% tetralogy of Fallot) or their child had (21% with a simple lesion, 15% tetralogy of Fallot), whilst 90% cases of CHD had undergone cardiac surgery. Patients with CHD were mostly employed (70%) or studying (8.8%), whilst 9.1% were receiving disability benefits. In terms of transition care, 52% of adult patients had been referred by a paediatric to adult cardiologist with 84% still actively managed by a specialist. Overall, 31% of patients with CHD sought emergency care and required >10 days sick leave in the past 12 months. Moreover, 71% and 55% of patients, respectively, reported recent feelings of anxiety/worry or depressive thoughts related to their CHD (61% sought professional assistance). Consistent with high levels of disruption to daily living, 59% of carer respondents (24%>10 days) had taken carer's leave in the past 12 months.
CONCLUSIONS: These contemporary, self-reported, Australian data reveal the burden of living and caring for CHD from an adult's perspective. Survey respondents highlighted the potential disconnect between paediatric and adult CHD services and suggest an important, unmet need for dedicated health services/community care to cost-effectively manage high levels of health care utilisation coupled with associated psychological distress.

PMID: 30826267 [PubMed - as supplied by publisher]

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Anesthetic management for cesarean delivery in a patient with uncorrected pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries.

Int J Obstet Anesth. 2018 Nov;36:125-129

Authors: Gang SP, Fang KY, Ma Y, Zhang FX, Xiang DK, Liu XL, Wang RP, Chen DD, Ma XW

Abstract
Pulmonary atresia witha ventricular septal defect and major aortopulmonary collateral arteries is an extremely rare congenital disorder characterized by a high risk of maternal mortality. We present the case of a 24-year-old primigravid woman with uncorrected pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arterieswho presented at 35+5 weeks' gestation. Based on the pathophysiology of the congenital cardiac lesion, cesarean delivery was performed under epidural anesthesia under management by a multidisciplinary team. This report highlights the anesthesia management of a rare uncorrected congenital cardiac lesion for cesarean delivery.

PMID: 30054110 [PubMed - indexed for MEDLINE]

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