bims-hylehe Biomed news
on Hypoplastic left heart syndrome
Issue of 2019‒02‒10
twelve papers selected by
Richard James
University of Pennsylvania


  1. Heart. 2019 Feb 02. pii: heartjnl-2018-314124. [Epub ahead of print]
    Wright LK, Knight JH, Thomas AS, Oster ME, St Louis JD, Kochilas LK.
      OBJECTIVE: Pulmonary atresia with intact ventricular septum (PA/IVS) can be treated by various operative and catheter-based interventions. We aim to understand the long-term transplant-free survival of patients with PA/IVS by treatment strategy.METHODS: Cohort study from the Pediatric Cardiac Care Consortium, a multi-institutional registry with prospectively acquired outcome data after linkage with the National Death Index and the Organ Procurement and Transplantation Network.
    RESULTS: Eligible patients underwent neonatal surgery or catheter-based intervention for PA/IVS between 1982 and 2003 (median follow-up of 16.7 years, IQR: 12.6-22.7). Over the study period, 616 patients with PA/IVS underwent one of three initial interventions: aortopulmonary shunt, right ventricular decompression or both. Risk factors for death at initial intervention included earlier birth era (1982-1992), chromosomal abnormality and atresia of one or both coronary ostia. Among survivors of neonatal hospitalisation (n=491), there were 99 deaths (4 post-transplant) and 10 transplants (median age of death or transplant 0.7 years, IQR: 0.3-1.8 years). Definite repair or last-stage palliation was achieved in the form of completed two-ventricle repair (n=201), one-and-a-half ventricle (n=39) or Fontan (n=96). Overall 20-year survival was 66%, but for patients discharged alive after definitive repair, it reached 97.6% for single-ventricle patients, 90.9% for those with one-and-a-half ventricle and 98.0% for those with complete two-ventricle repair (log-rank p=0.052).
    CONCLUSIONS: Transplant-free survival in PA/IVS is poor due to significant infantile and interstage mortality. Survival into early adulthood is excellent for patients reaching completion of their intended path independent of type of repair.
    Keywords:  congenital heart defect; congenital heart surgery; long-term outcomes; pulmonary atresia
    DOI:  https://doi.org/10.1136/heartjnl-2018-314124
  2. Congenit Heart Dis. 2019 Feb 04.
    Sluman MA, Apers S, Sluiter JK, Nieuwenhuijsen K, Moons P, Luyckx K, Kovacs AH, Thomet C, Budts W, Enomoto J, Yang HL, Jackson JL, Khairy P, Cook SC, Subramanyan R, Alday L, Eriksen K, Dellborg M, Berghammer M, Mattsson E, Mackie AS, Menahem S, Caruana M, Gosney K, Soufi A, Fernandes SM, White KS, Callus E, Kutty S, Bouma BJ, Mulder BJM, .
      BACKGROUND: Conflicting results have been reported regarding employment status and work ability in adults with congenital heart disease (CHD). Since this is an important determinant for quality of life, we assessed this in a large international adult CHD cohort.METHODS: Data from 4028 adults with CHD (53% women) from 15 different countries were collected by a uniform survey in the cross-sectional APPROACH International Study. Predictors for employment and work limitations were studied using general linear mixed models.
    RESULTS: Median age was 32 years (IQR 25-42) and 94% of patients had at least a high school degree. Overall employment rate was 69%, but varied substantially among countries. Higher education (OR 1.99-3.69) and having a partner (OR 1.72) were associated with more employment; female sex (OR 0.66, worse NYHA functional class (OR 0.67-0.13), and a history of congestive heart failure (OR 0.74) were associated with less employment. Limitations at work were reported in 34% and were associated with female sex (OR 1.36), increasing age (OR 1.03 per year), more severe CHD (OR 1.31-2.10), and a history of congestive heart failure (OR 1.57) or mental disorders (OR 2.26). Only a university degree was associated with fewer limitations at work (OR 0.62).
    CONCLUSIONS: There are genuine differences in the impact of CHD on employment status in different countries. Although the majority of adult CHD patients are employed, limitations at work are common. Education appears to be the main predictor for successful employment and should therefore be encouraged in patients with CHD.
    Keywords:  adult; congenital heart defects; disability; education; employment; work ability
    DOI:  https://doi.org/10.1111/chd.12747
  3. Curr Opin Pediatr. 2019 Feb 05.
    Desai K, Rabinowitz EJ, Epstein S.
      PURPOSE OF REVIEW: We aim to improve diagnosis of congenital heart disease (CHD) with cyanosis by physiology for general practitioners to reduce time to appropriate treatment.RECENT FINDINGS: New implementation of the critical congenital heart disease (CCHD) pulse oximetry screen has improved rate of diagnosis of CHD in recent years. However, many infants with cyanotic heart lesions often decompensate before screening in the newborn nursery, or have lesions that are not amenable to pulse oximetry screening and that present later in the emergency room. Recent literature has shown preoperative acidosis because of delayed diagnosis of cyanotic CHD worsens outcomes postoperatively. Wide availability of prostaglandin therapy and catheter procedures help to preoperatively stabilize critical cardiac patients. With a firm grasp of the underlying physiology of neonatal cyanotic CHD, practitioners can appropriately implement these therapies more judiciously. This early recognition will subsequently improve overall outcomes.
    SUMMARY: Physiologic diagnosis of CHD with cyanosis by general practitioners will allow initiation of appropriate management more quickly and effectively. This may avoid progressive clinical decompensation and acidosis until cardiology consultation and potential intervention are available.
    DOI:  https://doi.org/10.1097/MOP.0000000000000742
  4. Arch Cardiovasc Dis. 2019 Feb 02. pii: S1875-2136(19)30020-8. [Epub ahead of print]
    Vincenti M, Guillaumont S, Clarivet B, Macioce V, Mura T, Boulot P, Cambonie G, Amedro P.
      BACKGROUND: Prenatal diagnosis of congenital heart disease (CHD) is controversial because of unclear benefits in terms of morbidity and mortality, and issues with healthcare costs and organization.AIM: To compare, in children with severe CHD, 1-year morbidity and mortality between prenatal and postnatal diagnosis groups.
    METHODS: All pregnancies and children aged<1 year with a diagnosis of severe CHD were collected over a 5-year period from our database. Severe CHDs were defined as lethal cases, cases leading to medical termination of pregnancy, or children requiring surgery and/or interventional catheterization and/or hospitalization during their first year of life. The primary endpoint was 1-year mortality rate among live births.
    RESULTS: Overall, 322 cases of severe CHD were identified; 200 had a prenatal diagnosis and there were 97 terminations of pregnancy. Of the 225 live births, 34 died before the age of 1 year. The 1-year mortality rate was not significantly different between prenatal and postnatal groups (16.7% vs. 13.9%; p=0.13). In the prenatal group, prostaglandin use was more important and precocious, duration of hospitalization stay was longer, extracardiac complications were less common and cardiac surgery was performed more frequently and later. An association with chromosomal or syndromic anomalies was a risk factor for 1-year mortality.
    CONCLUSIONS: Prenatal diagnosis of severe CHD had an impact on the decision regarding termination of pregnancy, but not on the 1-year prognosis among live births. We should now use large multicentre CHD registries to determine the impact of prenatal diagnosis on postnatal management, neurological prognosis and quality of life.
    Keywords:  Cardiopathie congénitale; Congenital heart disease; Morbidity; Morbidité; Mortality; Mortalité; Paediatrics; Pédiatrie; Ultrasonography; Échographie
    DOI:  https://doi.org/10.1016/j.acvd.2018.11.013
  5. J Health Psychol. 2019 Feb 07. 1359105319826354
    Morton L.
      Over the last few decades, medical and surgical advances have led to a growing population of individuals living with congenital heart disease. The challenges of this condition can reach beyond physical limitations to include anxiety, depression and post-traumatic stress disorder. To date, these psychological outcomes have been neglected; yet, they need not be inevitable. The factors contributing to these difficulties are considered here, drawing on current evidence and neuropsychological theories including the novel application of polyvagal theory. Suggestions for developing psychologically informed medical and social care to improve mental health, wellbeing and recovery and influence policy and training are proposed (See supplemental material for video abstract).
    Keywords:  congenital heart disease; medical trauma; polyvagal theory; post-traumatic stress disorder; psycho-cardiology; psychological medicine; training; trauma informed
    DOI:  https://doi.org/10.1177/1359105319826354
  6. Curr Opin Chem Biol. 2019 Jan 31. pii: S1367-5931(18)30138-8. [Epub ahead of print]48 150-157
    Dorr KM, Conlon FL.
      Congenital malformations, or structural birth defects, are now the leading cause of infant mortality in the United States and Europe (Dolk et al., 2010; Heron et al., 2009). Of the congenital malformations, congenital heart disease (CHD) is the most common (Dolk et al., 2010; Heron et al., 2009). Thus, a molecular understanding of heart development is an essential goal for improving clinical approaches to CHD. However, CHDs are commonly a result of genetic defects that manifest themselves in a spatial and temporal manner during the early stages of embryogenesis, leaving them mostly intractable to mass spectrometry-based analysis. Here, we describe the technologies and advancements in the field of mass spectrometry over the past few years that have begun to provide insights into the molecular and cellular basis of CHD and prospects for these types of approaches in the future.
    DOI:  https://doi.org/10.1016/j.cbpa.2019.01.001
  7. Mayo Clin Proc. 2019 Feb;pii: S0025-6196(18)30996-0. [Epub ahead of print]94(2): 194-198
    Jacobs ML.
      
    DOI:  https://doi.org/10.1016/j.mayocp.2018.12.013
  8. MMWR Morb Mortal Wkly Rep. 2019 Feb 08. 68(5): 107-111
    Glidewell J, Grosse SD, Riehle-Colarusso T, Pinto N, Hudson J, Daskalov R, Gaviglio A, Darby E, Singh S, Sontag M.
      In 2011, the U.S. Department of Health and Human Services added critical congenital heart disease (CCHD), which occurs in two of every 1,000 births, to the list of conditions recommended to states for universal newborn screening (1). Without early detection, infants with CCHD are at risk for substantial morbidity and death in the first weeks and months of life (2). Based on 2007-2013 data, deaths from CCHD and other cardiac causes in infants aged <6 months significantly declined in infants born in eight states after they had fully implemented mandated newborn CCHD screening policies by June 2013 (3). CDC collaborated with the American Academy of Pediatrics (AAP) and the Association of Public Health Laboratories' Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) to update a 2015 report (4) on states' actions toward adopting and implementing policies supporting CCHD newborn screening. In 2018, all 50 states and the District of Columbia (DC) had implemented CCHD screening policies, and, with one exception, all states mandated that screening be done (California mandates that screening be offered). However, not all states had data systems in place for tracking all screening results and outcomes. Ongoing evaluation activities, which rely on screening data, could help identify program improvement opportunities and monitor the impact of early identification of CCHD.
    DOI:  https://doi.org/10.15585/mmwr.mm6805a3
  9. Biol Res Nurs. 2019 Feb 05. 1099800419827599
    Harrison TM, Chen CY, Stein P, Brown R, Heathcock JC.
      BACKGROUND:: Infants with complex congenital heart disease (CCHD) often develop neurodevelopmental disabilities. Cognitive abilities are associated with vagally mediated autonomic function. Skin-to-skin contact (SSC) interventions enhance infant neurodevelopment and autonomic function in other high-risk populations.AIM:: To examine the effects of a neonatal SSC intervention on learning and autonomic function in 3-month-old infants: infants with CCHD who received neonatal SSC ( n = 10), typically developing (TD) infants ( n = 16), and infants with CCHD without SSC ( n = 10).
    METHODS:: This secondary data analysis measured cognitive function using the mobile paradigm (MP), a classic measure of learning based on operant conditioning. Autonomic function was assessed with heart rate (HR) and HR variability (HRV). Data were analyzed with repeated-measures general linear mixed modeling with α = .10 for this exploratory study.
    RESULTS:: Learning rates were TD = 75%, cardiac-SSC = 70%, and cardiac-control = 40%. Learners demonstrated significant reductions in HRV during the MP; nonlearners exhibited no change. TD and cardiac-SSC groups exhibited increases in HR and reductions in HRV during the MP. No significant changes occurred in the cardiac-control group. Nonlinear HRV during the MP differed only in the TD group.
    CONCLUSIONS:: Findings suggest improvements in cognitive and autonomic development in 3-month-old infants with CCHD who received neonatal SSC. Learning and autonomic function results in infants with CCHD who had not received SSC suggest reduced capacity to muster the physiologic resources to carry out this cognitive task. Findings provide preliminary evidence in support of implementation of SSC with infants with CCHD and support additional research.
    Keywords:  autonomic nervous system; congenital heart disease; heart rate variability; neurodevelopment; skin-to-skin contact
    DOI:  https://doi.org/10.1177/1099800419827599
  10. Congenit Heart Dis. 2019 Feb 06.
    Kim YY, Goldberg LA, Awh K, Bhamare T, Drajpuch D, Hirshberg A, Partington SL, Rogers R, Ruckdeschel E, Tobin L, Venuti M, Levine LD.
      OBJECTIVE: To assess performance of risk stratification schemes in predicting adverse cardiac outcomes in pregnant women with congenital heart disease (CHD) and to compare these schemes to clinical factors alone.DESIGN: Single-center retrospective study.
    SETTING: Tertiary care academic hospital.
    PATIENTS: Women ≥18 years with International Classification of Diseases, Ninth Revision, Clinical Modification codes indicating CHD who delivered between 1998 and 2014. CARPREG I and ZAHARA risk scores and modified World Health Organization (WHO) criteria were applied to each woman.
    OUTCOME MEASURES: The primary outcome was defined by ≥1 of the following: arrhythmia, heart failure/pulmonary edema, transient ischemic attack, stroke, dissection, myocardial infarction, cardiac arrest, death during gestation and up to 6 months postpartum.
    RESULTS: Of 178 women, the most common CHD lesions were congenital aortic stenosis (15.2%), ventricular septal defect (13.5%), atrial septal defect (12.9%), and tetralogy of Fallot (12.9%). Thirty-five women (19.7%) sustained 39 cardiac events. Observed vs expected event rates were 9.9% vs 5% (P = .02) for CARPREG I score 0 and 26.1% vs 7.5% (P < .001) for ZAHARA scores 0.51-1.5. ZAHARA outperformed CARPREG I at predicting adverse cardiovascular outcomes (AUC 0.80 vs 0.72, P = .03) but was not significantly better than modified WHO. Clinical predictors of adverse cardiac event were symptoms (P = .002), systemic ventricular dysfunction (P < .001), and subpulmonary ventricular dysfunction (P = .03) with an AUC 0.83 comparable to ZAHARA (P = .66).
    CONCLUSIONS: CARPREG I and ZAHARA scores underestimate cardiac risk for lower risk pregnancies in these women. Of the three risk schemes, CARPREG I performed least well in predictive capacity. Clinical factors specific to the population studied are comparable to stratification schemes.
    Keywords:  adult congenital heart disease; outcomes; pregnancy; risk stratification
    DOI:  https://doi.org/10.1111/chd.12750