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Independent Risk Factors and 2-Year Outcomes of Acute Kidney Injury after Surgery for Congenital Heart Disease.

Am J Nephrol. 2017;46(3):204-209

Authors: Hirano D, Ito A, Yamada A, Kakegawa D, Miwa S, Umeda C, Chiba K, Takemasa Y, Tokunaga A, Ida H

BACKGROUND: Data are limited regarding risk factors for acute kidney injury (AKI) following cardiac surgery in children with congenital heart disease (CHD). This observational study was performed to examine temporal trends in AKI incidence according to the Pediatric Risk, Injury, Failure, Loss, End-Stage Renal Disease (pRIFLE) criteria, identify independent risk factors for AKI after cardiac surgery, and examine associations between AKI and long-term mortality.
METHODS: We retrospectively evaluated 418 patients (259 males, 159 females; median age, 5 months) who underwent cardiac surgery for CHD between April 2007 and August 2013. Patients were followed up for 2 years. AKI was defined according to the pRIFLE criteria as ≥25% decrease in estimated creatinine clearance.
RESULTS: AKI developed postoperatively in 104 cases (24.9%). Approximately 80% belonged to the "Risk" category according to the pRIFLE criteria, and only 21 cases (5%) required renal replacement therapy (peritoneal dialysis in all cases). Multivariate analysis revealed 3 independent risk factors for onset of AKI: young age (<1 year), surgery in Risk Adjustment in Congenital Heart Surgery (RACHS-1) category ≥4, and long cardiopulmonary bypass (CPB) time (≥90 min). Twenty-three patients (22%) with AKI died during the 2-year follow-up. In multivariate cox hazard regression analysis, the most significant contributor to risk of mortality was AKI.
CONCLUSIONS: Postoperative AKI was strongly associated with young age, high RACHS-1 category, and prolonged CPB time. In addition, mortality rate was higher in patients who survived after recovery from AKI than in those without AKI, even among the lower pRIFLE categories.

PMID: 28858859 [PubMed - indexed for MEDLINE]

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GATA6 loss-of-function mutation contributes to congenital bicuspid aortic valve.

Gene. 2018 Jul 15;663:115-120

Authors: Xu YJ, Di RM, Qiao Q, Li XM, Huang RT, Xue S, Liu XY, Wang J, Yang YQ

Congenital bicuspid aortic valve (BAV), the most common form of birth defect in humans, is associated with substantial morbidity and mortality. Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV. However, BAV is a genetically heterogeneous disease and the genetic determinants underpinning BAV in an overwhelming majority of patients remain unknown. In the present study, the coding exons and flanking introns of the GATA6 gene, which encodes a zinc-finger transcription factor essential for the normal development of the aortic valves, were sequenced in 152 unrelated patients with congenital BAV. The available relatives of a proband harboring an identified GATA6 mutation and 200 unrelated, ethnically matched healthy individuals used as controls were also genotyped for GATA6. The functional characteristics of the mutation were analyzed by using a dual-luciferase reporter assay system. As a result, a novel heterozygous GATA6 mutation, p.E386X, was identified in a family with BAV transmitted in an autosomal dominant mode. The nonsense mutation was absent in 400 control chromosomes. Biological assays revealed that the mutant GATA6 protein had no transcriptional activity compared with its wild-type counterpart. Furthermore, the mutation disrupted the synergistic transcriptional activation between GATA6 and GATA4, another transcription factor causally linked to BAV. In conclusion, this study firstly associates GATA6 loss-of-function mutation with enhanced susceptibility to familial BAV, which provides novel insight into the molecular mechanism of BAV, implying potential implications for genetic counseling and personalized management of BAV patients.

PMID: 29653232 [PubMed - indexed for MEDLINE]

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[Cardiovascular risk factors in patients after coarctation of aorta repair].

Pol Merkur Lekarski. 2018 May 25;44(263):219-222

Authors: Róg B, Okólska M, Sałapa K, Smaś-Suska M, Dłużniewska N, Podolec P, Tomkiewicz-Pająk L

The coarctation of the aorta (CoA) is a congenital condition of the thoracic aorta.
AIM: The aim of the study was assessment of atherosclerosis risk factors in adult patients after surgical treatment of aortic coarctation.
MATERIALS AND METHODS: 58 patients (36 male, 22 female) at median age of 27.46 ±10.57 were compared with 30 healthy, age and sex matched volunteers. The arterial blood pressure, lipid profile, fasting glucose, inflammation markers and the lifestyle factors were analyzed.
RESULTS: CoA patients have higher systolic blood pressure 136.55±16.27 vs 123.47±10.34 mmHg, p<0.001, fasting glucose 4.95±0.5 vs 4.65±0.46 mmol/l p=0.002, hsCRP 1.03±0.12 vs 0.89±0.14 mg/l p=0.025 and fibrinogen 2.55±0.34 vs 1.98±0.28 g/l p<0.001. Hyperlipidemia is more common 44.8% vs 23.3% p=0.048, treated with statin. When comparing hypertensive patients (N=28) with normotensive ones (N=30), the patients with arterial hypertension are older 33.5±12.23 vs 25.73±7.12 p=0.004, have higher body weight 78.03±14.58 vs 68.7±14.29 p=0.017, in this group more common are: hypoplastic aortic arch 28.6% vs 6.7% p=0.027, recoarctation 39.3% vs 13.3% p=0.024, cardiovascular disease 14.3% vs 0% p=0.032 and family history 21.4% vs 3.3% p=0.034.
CONCLUSIONS: The coarctation of aorta is related to higher cardiovascular risk due to arterial hypertension, hyperlipidemia, higher glucose and inflammation markers levels when comparing with healthy population.

PMID: 29813038 [PubMed - in process]

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Rare copy number variants in patients with congenital conotruncal heart defects.

Birth Defects Res. 2017 Mar 01;109(4):271-295

Authors: Xie HM, Werner P, Stambolian D, Bailey-Wilson JE, Hakonarson H, White PS, Taylor DM, Goldmuntz E

BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome.
METHODS: Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content. Analyses were performed to ascertain differences in overall CNV prevalence and to identify enrichment of specific genes and functional pathways in conotruncal cases relative to healthy controls.
RESULTS: Only findings present in both cohorts are presented. From 973 total conotruncal cases, a burden of rare CNVs was detected in both cohorts. Candidate genes from rare CNVs found in both cohorts were identified based on their association with cardiac development or disease, and/or their reported disruption in published studies. Functional and pathway analyses revealed significant enrichment of terms involved in either heart or early embryonic development.
CONCLUSION: Our study tested one of the largest cohorts specifically with cardiac conotruncal and related defects. These results confirm and extend previous findings that CNVs contribute to disease risk for congenital heart defects in general and conotruncal defects in particular. As disease heterogeneity renders identification of single recurrent genes or loci difficult, functional pathway and gene regulation network analyses appear to be more informative. Birth Defects Research 109:271-295, 2017. © 2017 Wiley Periodicals, Inc.

PMID: 28398664 [PubMed - indexed for MEDLINE]

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Costs, mortality, and hospital usage in relation to prenatal diagnosis in d-transposition of the great arteries.

Birth Defects Res. 2017 Mar 01;109(4):262-270

Authors: Pinto NM, Nelson R, Botto L, Puchalski MD, Krikov S, Kim J, Waitzman NJ

BACKGROUND: The impact of prenatal diagnosis of d-transposition of the great arteries (dTGA) on health-care usage is largely unknown. We evaluated a population-based cohort to assess costs, mortality and inpatient encounters by whether dTGA was prenatally diagnosed or not.
METHODS: The dTGA cases (born 1997-2011) identified at the Utah Birth Defect Network, which includes data on timing of diagnosis, were linked to statewide inpatient discharge data. We excluded preterm cases or cases with additional major heart defects. We evaluated hospitalizations and costs for infants (first year of life) and mothers (10 months before birth) using multivariable models adjusted for demographic and clinical risk factors.
RESULTS: Of 119 cases, 14 (12%) were prenatally diagnosed. Birth weight, surgical complexity and extracardiac defects/syndromes were similar between groups. Of 7 deaths (6%), two occurred pre-intervention in postnatally diagnosed infants. Prenatal diagnosis was associated with more in-hospital days (estimate 13 additional days, p = 0.03) and higher mean costs for mothers ($4,141 vs $12,148) and infants (90,419 vs $49,576). Prenatal diagnosis independently predicted higher adjusted costs for the overall cohort ($22,570, p = 0.045). After excluding deaths, total costs were no longer significantly different.
CONCLUSION: Mothers of prenatally diagnosed infants with dTGA had higher inpatient costs compared with those postnatally diagnosed. Costs trended higher for their infants, although were not significantly different. Linkage of population-based surveillance systems and outcome databases can be a powerful tool to further explore the complex relationship of prenatal diagnosis to costs and outcomes in other types of congenital heart diseases. Birth Defects Research 109:262-270, 2017. © 2017 Wiley Periodicals, Inc.

PMID: 28398667 [PubMed - indexed for MEDLINE]

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Clinical presentation and outcomes of patients with acute rheumatic fever and rheumatic heart disease seen at a tertiary hospital setting in Port Elizabeth, South Africa.

Cardiovasc J Afr. 2017 Jul/Aug 23;28(4):248-250

Authors: Makrexeni ZM, Pepeta L

BACKGROUND: The incidence of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) has waned in Western countries, however that is not the situation in developing nations.
METHODS: Records were reviewed of patients from the Eastern Cape municipal districts who presented to the Paediatric Cardiology Unit with ARF and RHD from January 2008 to August 2015.
RESULTS: Total of 56 patients with ARF/RHD was reviewed. The majority of patients (n = 52) presented for the first time with RHD. Four patients presented with ARF and two had recurrent ARF. Six patients presented with a combination of RHD and congenital heart disease. Twenty-three patients were operated on for chronic rheumatic valve disease, with good outcomes.
CONCLUSION: The true burden of ARF/RHD is unknown in the Eastern Cape. Prospective studies are needed to accurately determine the prevalence of RHD in this province.

PMID: 28430286 [PubMed - indexed for MEDLINE]

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Interrupted aortic arch complicated with takotsubo cardiomyopathy mimicking aortic dissection.

BMJ Case Rep. 2017 Oct 09;2017:

Authors: Mari Baloch F, Tai JM, Hameed Khan A, Baqi A

A 50-year-old man presented to the emergency department with interscapular pain, diaphoresis and restlessness. Initial examination raised the possibility of aortic dissection; however, the CT scan did not concur with the diagnosis. An ECG showed ST segment elevation in leads V1-V6 and echocardiography showed severe left ventricular systolic dysfunction. Coronary angiography through the right femoral artery was attempted but the diagnostic catheter could not be advanced to the ascending aorta. Radiocontrast injection showed complete obstruction of the descending aorta. Coronary angiography through right radial approach showed mild left anterior descending disease. The aortogram showed complete interruption of the ascending aorta with extensive collateral network. Left ventricle gram was consistent with stress-induced cardiomyopathy. We noticed intermittent confusion and agitation. MRI of the brain showed areas of deep white matter ischaemia as well as microhaemorrhages, suggesting posterior reversible leucoencephalopathy syndrome. He unfortunately went into cardiac arrest and could not be revived.

PMID: 28993347 [PubMed - indexed for MEDLINE]

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Stroke in Adults With Coarctation of the Aorta: A National Population-Based Study.

J Am Heart Assoc. 2018 Jun 01;7(11):

Authors: Pickard SS, Gauvreau K, Gurvitz M, Gagne JJ, Opotowsky AR, Jenkins KJ, Prakash A

BACKGROUND: Adults with repaired coarctation of the aorta (CoA) have reduced long-term survival compared with the general population. This study aimed to determine whether CoA is independently associated with premature ischemic and hemorrhagic stroke in the contemporary era.
METHODS AND RESULTS: This was a cross-sectional study utilizing the National Inpatient Sample database from 2005 to 2014. We hypothesized that patients with CoA are hospitalized with ischemic and hemorrhagic stroke at a younger age compared with the general population. To test this hypothesis, we compared the age at stroke in patients with and without a diagnosis of CoA using simple and multivariable weighted linear regression. Among 4 894 582 stroke discharges, 207 had a diagnosis of CoA. Patients with CoA had strokes at significantly younger age compared with patients without CoA: 18.9 years younger for all-cause stroke (P<0.001), 15.9 years younger for ischemic stroke (P<0.001), and 28.5 years younger for hemorrhagic stroke (P<0.001), after adjusting for potential confounders. There was no significant difference in the proportion of ischemic strokes between those with and without CoA (79.2% versus 83.0%, P=0.50). However, CoA patients had a higher proportion of subarachnoid hemorrhage (11.8% versus 4.8%, P=0.039) than those without CoA. Among patients who had a hemorrhagic stroke, the prevalence of unruptured intracranial aneurysms was higher in patients with CoA compared with those without CoA (23.3% versus 2.5%, P=0.002).
CONCLUSIONS: Patients with CoA have both ischemic and hemorrhagic strokes at significantly younger ages compared with the general population.

PMID: 29858370 [PubMed - in process]

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Risk of thromboembolic complications in adult congenital heart disease: A literature review.

Arch Cardiovasc Dis. 2018 May 30;:

Authors: Karsenty C, Zhao A, Marijon E, Ladouceur M

Adult congenital heart disease (ACHD) is a constantly expanding population with challenging issues. Initial medical and surgical treatments are seldom curative, and the majority of patients still experience late sequelae and complications, especially thromboembolic events. These common and potentially life-threating adverse events are probably dramatically underdiagnosed. Better identification and understanding of thromboembolic risk factors are essential to prevent long-term related morbidities. In addition to specific situations associated with a high risk of thromboembolic events (Fontan circulation, cyanotic congenital heart disease), atrial arrhythmia has been recognized as an important risk factor for thromboembolic events in ACHD. Unlike in patients without ACHD, thromboembolic risk stratification scores, such as the CHA2DS2-VASc score, may not be applicable in ACHD. Overall, after a review of the scientific data published so far, it is clear that the complexity of the underlying congenital heart disease represents a major risk factor for thromboembolic events. As a consequence, prophylactic anticoagulation is indicated in patients with complex congenital heart disease and atrial arrhythmia, regardless of the other risk factors, as opposed to simple heart defects. The landscape of ACHD is an ongoing evolving process, and specific thromboembolic risk scores are needed, especially in the setting of simple heart defects; these should be coupled with specific trials or long-term follow-up of multicentre cohorts.

PMID: 29859704 [PubMed - as supplied by publisher]

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Impact of Percutaneous Pulmonary Valve Implantation on the Timing of Reintervention for Right Ventricular Outflow Tract Dysfunction.

Rev Esp Cardiol (Engl Ed). 2018 May 30;:

Authors: de Torres-Alba F, Kaleschke G, Baumgartner H

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. Early surgical repair has dramatically improved the outcome of this condition. However, despite the success of contemporary approaches with early complete repair, these are far from being curative and late complications are frequent. The most common complication is right ventricle outflow tract (RVOT) dysfunction, affecting most patients in the form of pulmonary regurgitation, pulmonary stenosis, or both, and can lead to development of symptoms of exercise intolerance, arrhythmias, and sudden cardiac death. Optimal timing of restoration of RVOT functionality in asymptomatic patients with RVOT dysfunction after TOF repair is still a matter of debate. Percutaneous pulmonary valve implantation, introduced almost 2 decades ago, has become a major game-changer in the treatment of RVOT dysfunction. In this article we review the pathophysiology, the current indications, and treatment options for RVOT dysfunction in patients after TOF repair with a focus on the role of percutaneous pulmonary valve implantation in the therapeutic approach to these patients.

PMID: 29859895 [PubMed - as supplied by publisher]