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Severity of Fontan-Associated Liver Disease Correlates with Fontan Hemodynamics.

Pediatr Cardiol. 2020 Apr;41(4):736-746

Authors: Schleiger A, Salzmann M, Kramer P, Danne F, Schubert S, Bassir C, Müller T, Müller HP, Berger F, Ovroutski S

Fontan-palliated patients are at risk for the development of Fontan-associated liver disease (FALD). In this study, we performed a detailed hemodynamic and hepatic assessment to analyze the incidence and spectrum of FALD and its association with patients' hemodynamics. From 2017 to 2019, 145 patients underwent a detailed, age-adjusted hepatic examination including laboratory analysis (FibroTest®, n = 101), liver ultrasound (n = 117) and transient elastography (FibroScan®, n = 61). The median patient age was 16.0 years [IQR 14.2], and the median duration of the Fontan circulation was 10.3 years [IQR 14.7]. Hemodynamic assessment was performed using echocardiography, cardiopulmonary exercise capacity testing and cardiac catheterization. Liver ultrasound revealed hepatic parenchymal changes in 83 patients (70.9%). Severe liver cirrhosis was detectable in 20 patients (17.1%). Median liver stiffness measured by FibroScan® was 27.7 kPa [IQR 14.5], and the median Fibrotest® score was 0.5 [IQR 0.3], corresponding to fibrosis stage ≥ 2. Liver stiffness values and Fibrotest® scores correlated significantly with Fontan duration (P1 = 0.013, P2 = 0.012). Exercise performance was significantly impaired in patients with severe liver cirrhosis (P = 0.003). Pulmonary artery pressure and end-diastolic pressure were highly elevated in cirrhotic patients (P1 = 0.008, P2 = 0.003). Multivariable risk factor analysis revealed Fontan duration to be a major risk factor for the development of FALD (P < 0.001, OR 0.77, CI 0.68-0.87). In the majority of patients, hepatic abnormalities suggestive of FALD were detectable by liver ultrasound, transient elastography and laboratory analysis. The severity of FALD correlated significantly with Fontan duration and impaired Fontan hemodynamics. A detailed hepatic assessment is indispensable for long-term surveillance of Fontan patients.

PMID: 32006084 [PubMed - indexed for MEDLINE]

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Healthcare system inputs and patient-reported outcomes: a study in adults with congenital heart defect from 15 countries.

BMC Health Serv Res. 2020 Jun 03;20(1):496

Authors: Van Bulck L, Goossens E, Luyckx K, Apers S, Oechslin E, Thomet C, Budts W, Enomoto J, Sluman MA, Lu CW, Jackson JL, Khairy P, Cook SC, Chidambarathanu S, Alday L, Eriksen K, Dellborg M, Berghammer M, Johansson B, Mackie AS, Menahem S, Caruana M, Veldtman G, Soufi A, Fernandes SM, White K, Callus E, Kutty S, Moons P, APPROACH-IS consortium and the International Society for Adult Congenital Heart Disease (ISACHD)

BACKGROUND: The relationship between healthcare system inputs (e.g., human resources and infrastructure) and mortality has been extensively studied. However, the association between healthcare system inputs and patient-reported outcomes remains unclear. Hence, we explored the predictive value of human resources and infrastructures of the countries' healthcare system on patient-reported outcomes in adults with congenital heart disease.
METHODS: This cross-sectional study included 3588 patients with congenital heart disease (median age = 31y; IQR = 16.0; 52% women; 26% simple, 49% moderate, and 25% complex defects) from 15 countries. The following patient-reported outcomes were measured: perceived physical and mental health, psychological distress, health behaviors, and quality of life. The assessed inputs of the healthcare system were: (i) human resources (i.e., density of physicians and nurses, both per 1000 people) and (ii) infrastructure (i.e., density of hospital beds per 10,000 people). Univariable, multivariable, and sensitivity analyses using general linear mixed models were conducted, adjusting for patient-specific variables and unmeasured country differences.
RESULTS: Sensitivity analyses showed that higher density of physicians was significantly associated with better self-reported physical and mental health, less psychological distress, and better quality of life. A greater number of nurses was significantly associated with better self-reported physical health, less psychological distress, and less risky health behavior. No associations between a higher density of hospital beds and patient-reported outcomes were observed.
CONCLUSIONS: This explorative study suggests that density of human resources for health, measured on country level, are associated with patient-reported outcomes in adults with congenital heart disease. More research needs to be conducted before firm conclusions about the relationships observed can be drawn.
TRIAL REGISTRATION: NCT02150603. Registered 30 May 2014.

PMID: 32493367 [PubMed - in process]

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Defibrillators in adult congenital heart disease: long-term risk of appropriate shocks, inappropriate shocks and complications.

Pacing Clin Electrophysiol. 2020 Jun 04;:

Authors: Moore BM, Cao J, Cordina RL, McGuire MA, Celermajer DS

AIMS: Sudden cardiac death (SCD) accounts for up to 25% of deaths in the adult congenital heart disease (ACHD) population. Current guidelines for defibrillator implantation are either extrapolated from acquired cardiac disease or are based upon single lesion studies, predominantly Tetralogy of Fallot (TOF). Defibrillator-related morbidity appears to be substantially higher in ACHD patients.
METHODS: We retrospectively evaluated all patients in our ACHD database who received an implantable cardioverter-defibrillator (ICD) between 2000-2019, and who were ≥ 16 years old at time of implant. Patients were followed for appropriate shocks, inappropriate shocks and complications.
RESULTS: Of 4748 patients in our database, 59 patients (1.2%) underwent ICD implantation. ICDs were for primary prevention in 63% and secondary prevention in 37%. Over a median follow up of 6.6 years, 24% received an appropriate shock, 27% an inappropriate shock and 42% suffered a device-related complication (annualised risks of 3.2%, 3.6% and 5.7% respectively). There were no significant predictors of appropriate shocks or inappropriate shocks. All appropriate shocks in primary prevention patients occurred in TOF or transposition of the great arteries (TGA) with atrial switch, typically in the presence of multiple SCD risk factors. The majority of inappropriate shocks were due to supraventricular arrhythmias. Device-related mortality was 1.7% (0.3% per annum).
CONCLUSIONS: Appropriate shocks were relatively common in an ACHD ICD population followed long-term. Device-related morbidity was significant. Although risk factors have been established for TOF, and to a lesser extent TGA, risk stratification for ICD implantation in ACHD remains challenging. This article is protected by copyright. All rights reserved.

PMID: 32495949 [PubMed - as supplied by publisher]

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Factors associated with perioperative mortality in children and adolescents operated for tetralogy of Fallot: A sub-Saharan experience.

J Card Surg. 2019 Dec;34(12):1478-1485

Authors: Tefera E, Gedlu E, Nega B, Tadesse BT, Chanie Y, Dawoud A, Moges FH, Bezabih A, Moges T, Centella T, Marianeschi S, Coca A, Collado R, Kassa MW, Johansson S, van Doorn C, Barber BJ, Teodori M

BACKGROUND: Patients with tetralogy of Fallot are now surviving to adulthood with timely surgical intervention. However, many patients in low-income countries have no access to surgical intervention. This paper reports the surgical access and perioperative mortality in a sub-Saharan center that was mainly dependent on visiting teams.
METHODS: We reviewed records of patients operated from January 2009 to December 2014. We examined perioperative outcomes, primarily focusing on factors associated with perioperative mortality.
RESULTS: During this period, 62 patients underwent surgery. Fifty-seven (91.9%) underwent primary repair, while 5 (6.5%) underwent palliative shunt surgery. Of the five patients with shunt surgery, four ultimately underwent total repair. Eight (12.9%) patients died during the perioperative period. Factors associated with perioperative mortality include repeated preoperative phlebotomy procedures (P < .001), repeated runs and long cardiopulmonary bypass time (P < .001), and aortic cross-clamp time (P < .001), narrow pulmonary artery (PA) valve annulus diameter (P = .022), narrow distal main PA diameter (P = .039), narrow left branch PA diameter (P = .049), and narrow right PA diameter (P = .039). Of these factors, cardiopulmonary bypass time/aortic cross-clamp time and pulmonary valve annulus diameter less than three SD were independently associated with perioperative mortality.
CONCLUSION: In this series of consecutive patients operated by a variety of humanitarian surgical teams, cardiopulmonary bypass time/aortic cross-clamp time, and pulmonary valve annulus diameter less than three SD were independently associated with perioperative mortality risk. As some of these factors are modifiable, we suggest that they should be considered during patient selection and at the time of surgical intervention.

PMID: 31600427 [PubMed - indexed for MEDLINE]

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Aortic Valve Neo-Cuspidization in Children - Ready for Prime Time Yet?

World J Pediatr Congenit Heart Surg. 2019 11;10(6):731-732

Authors: Goldberg R, Kumar SR

PMID: 31701839 [PubMed - indexed for MEDLINE]

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Health Care Transition Perceptions Among Parents of Adolescents with Congenital Heart Defects in Georgia and New York.

Pediatr Cardiol. 2020 Jun 04;:

Authors: Gaydos LM, Sommerhalter K, Raskind-Hood C, Fapo O, Lui G, Hsu D, Van Zutphen A, Glidewell J, Farr S, Rodriguez FH, Hoffman T, Book W

With increasing survival trends for children and adolescents with congenital heart defects (CHD), there is a growing need to focus on transition from pediatric to adult specialty cardiac care. To better understand parental perspectives on the transition process, a survey was distributed to 451 parents of adolescents with CHD who had recent contact with the healthcare system in Georgia (GA) and New York (NY). Among respondents, 90.7% reported excellent, very good or good health-related quality of life (HRQoL) for their adolescent. While the majority of parents (77.8%) had been told by a provider about their adolescent's need to transition to adult specialty cardiac care, most reported concerns about transitioning to adult care. Parents were most commonly concerned with replacing the strong relationship with pediatric providers (60.7%), locating an appropriate adult provider (48.7%), and accessing adult health insurance coverage (43.6%). These findings may offer insights into transition planning for adolescents with CHD.

PMID: 32500288 [PubMed - as supplied by publisher]

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Trans-apical systemic tricuspid valve-in-ring replacement.

Catheter Cardiovasc Interv. 2019 05 01;93(6):1165-1169

Authors: Ghobrial J, Reemtsen B, Levi DS, Aboulhosn J

Transcatheter valve replacement offers a safe and effective alternative to traditional surgical techniques in patients with congenital heart disease, especially those at high surgical risk. The most common causes of morbidity and mortality in patients with D-transposition of the great arteries status post Senning or Mustard repair is severe tricuspid valve (TV) regurgitation. Replacement of the systemic TV may be useful in those without severe systemic ventricular dysfunction. We present a case of a patient with D-loop transposition of the great arteries status post Mustard repair and TV ring placement with subsequent severe systemic TV regurgitation, at high surgical risk, who underwent a transcatheter valve replacement via a trans-apical approach using an Edwards Sapien XT valve.

PMID: 30565408 [PubMed - indexed for MEDLINE]

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Clinical and molecular spectrum of CHOPS syndrome.

Am J Med Genet A. 2019 07;179(7):1126-1138

Authors: Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K

CHOPS syndrome is a multisystem disorder caused by missense mutations in AFF4. Previously, we reported three individuals whose primary phenotype included cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, and short stature. This syndrome overlaps phenotypically with Cornelia de Lange syndrome, but presents distinct differences including facial features, pulmonary involvement, and obesity. Here, we provide clinical descriptions of an additional eight individuals with CHOPS syndrome, as well as neurocognitive analysis of three individuals. All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. Congenital heart disease and pulmonary involvement were common, and those were seen in about 70% of individuals with CHOPS syndrome. Skeletal abnormalities are also common, and those include abnormal shape of vertebral bodies, hypoplastic long bones, and low bone mineral density. Our observation indicates that obesity, pulmonary involvement, skeletal findings are the most notable features distinguishing CHOPS syndrome from Cornelia de Lange syndrome. In fact, two out of eight of our newly identified patients were found to have AFF4 mutations by targeted AFF4 mutational analysis rather than exome sequencing. These phenotypic findings establish CHOPS syndrome as a distinct, clinically recognizable disorder. Additionally, we report three novel missense mutations causative for CHOPS syndrome that lie within the highly conserved, 14 amino acid sequence of the ALF homology domain of the AFF4 gene, emphasizing the critical functional role of this region in human development.

PMID: 31058441 [PubMed - indexed for MEDLINE]

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Exploring associations of maternal sleep during periconceptional period with congenital heart disease in offspring.

Birth Defects Res. 2019 08 01;111(13):920-931

Authors: Zhao A, Zhao K, Xia Y, Yin Y, Zhu J, Hong H, Li S

BACKGROUND: In general, the existing evidence points to a role for maternal sleep in pregnancy complications and fetal growth, however, little has been focused on birth defects. We aimed to explore the association between periconceptional poor sleep and the risk of congenital heart disease (CHD), and to examine if daytime napping could to some extent change the association.
METHODS: A case-control study was conducted in Shanghai Children's Medical Center, in which, a total of 524 cases (262 simple CHD vs. 262 severe CHD), along with 262 controls.
RESULTS: In the multivariable logistic analysis, poor sleep could increase the risk of both simple CHD (OR = 2.486, 95% CI = 1.619-3.818) and severe CHD (OR = 1.950, 95% CI = 1.269-2.997), while routine daytime nap could decrease risk of simple CHD (OR = 0.634, 95% CI = 0.435-0.923). In the stratified analysis, the concurrence with routine daytime nap could weaken the risk of simple CHD caused by poor sleep (OR = 3.183, 95% CI: 1.830-5.537 decreased to OR = 2.236, 95% CI: 1.200-4.165). The examinations were repeated in ventricular septal defect and tetralogy of Fallot, and the established associations can be verified. Moreover, all these findings were also similarly observed in both propensity-score-adjusted and propensity-score-matched analyses.
CONCLUSIONS: Poor maternal sleep around periconceptional period seems to be an independent risk factor for CHD. The concurrence with daytime nap could to some extent reduce the risk in simple CHD. The results individually and collectively put forward the importance of maternal sleep in embryonic heart development.

PMID: 31206252 [PubMed - indexed for MEDLINE]

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Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Birth Defects Res. 2019 08 01;111(13):888-905

Authors: Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E

Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We hypothesized that similar genetic variants, developmental pathways and biological functions, contribute to disease risk for CTRD in patients without a 22q11.2 deletion (ND-CTRD) and with a 22q11.2 deletion (DS-CTRD). To test this hypothesis, we performed rare CNV (rCNV)-based analyses on 630 ND-CTRD cases and 602 DS-CTRD cases with comparable cardiac lesions separately and jointly. First, we detected a collection of heart development related pathways from Gene Ontology and Mammalian Phenotype Ontology analysis. We then constructed gene regulation networks using unique genes collected from the rCNVs found in the ND-CTRD and DS-CTRD cohorts. These gene networks were clustered and their predicted functions were examined. We further investigated expression patterns of those unique genes using publicly available mouse embryo microarray expression data from single-cell embryos to fully developed hearts. By these bioinformatics approaches, we identified a commonly shared gene expression pattern in both the ND-CTRD and DS-CTRD cohorts. Computational analysis of gene functions characterized with this expression pattern revealed a collection of significantly enriched terms related to cardiovascular development. By our combined analysis of rCNVs in the ND-CTRD and DS-CTRD cohorts, a group of statistically significant shared pathways, biological functions, and gene expression patterns were identified that can be tested in future studies for their biological relevance.

PMID: 31222980 [PubMed - indexed for MEDLINE]