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Is advanced maternal age a risk factor for congenital heart disease?

Birth Defects Res A Clin Mol Teratol. 2016 Jun;106(6):461-7

Authors: Best KE, Rankin J

Abstract
BACKGROUND: Studies have reported that advanced maternal age is a risk factor for congenital heart disease (CHD), but none of these have been performed in the United Kingdom. Currently, women in the United Kingdom are not referred for specialist fetal echocardiography based on maternal age alone. The aim of this study is to examine the association between maternal age at delivery and CHD prevalence in the North of England.
METHODS: Singleton cases of CHD notified to the Northern Congenital Abnormality Survey and born between January 1, 1998, to December 31, 2013, were included. Cases with chromosomal anomalies were excluded. The relative risk (RR) of CHD according to maternal age at delivery was estimated using Poisson regression.
RESULTS: There were 4024 singleton cases of nonchromosomal CHD, giving a prevalence of 8.1 (95% confidence interval [CI], 7.8-8.3) per 1000 live and stillbirths. There was no association between maternal age at delivery and CHD prevalence (p = 0.97), with no evidence of an increased risk of CHD in mothers aged ≥35 compared to aged 25 to 29 (RR = 0.99; 95% CI, 0.89-1.09). There were no significant associations between maternal age at delivery and severity III CHD (p = 0.84), severity II CHD (p = 0.74), or severity I CHD (p = 0.66), although there was a slight increased risk of severity I CHD in mothers aged ≥35 (RR = 1.27; 95% CI, 0.83-1.95).
CONCLUSION: We found little evidence that advanced maternal age is a risk factor for CHD. There is no evidence that women in the United Kingdom should be referred for specialist prenatal cardiac screening based on their age. Birth Defects Research (Part A) 106:461-467, 2016. © 2016 Wiley Periodicals, Inc.

PMID: 27301558 [PubMed - indexed for MEDLINE]

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Molecular genetics testing for familial absence of the left ventricular outflow tract: A rare malformation.

Int J Cardiol. 2016 Nov 15;223:7-9

Authors: Sun F, Chen Y, Xu S, Xiao Y, Ren W, Zhang Y

PMID: 27522269 [PubMed - indexed for MEDLINE]

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Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

Am J Med Genet A. 2016 Dec;170(12):3157-3164

Authors: Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R, BAVCon Investigators, GenTAC Registry Investigators, Lemaire SA, Body SC, Milewicz DM

Abstract
Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

PMID: 27604636 [PubMed - indexed for MEDLINE]

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Clinical Assessment of Histidine-Tryptophan-Ketoglutarate Solution and Modified St. Thomas' Solution in Pediatric Cardiac Surgery of Tetralogy of Fallot.

Artif Organs. 2017 May;41(5):470-475

Authors: Wang ZH, An Y, Du MC, Qin TJ, Liu YB, Xu HZ, Yang LQ

Abstract
The objective of this study is to compare the myocardium protective effect of Bretschneider's histidine-tryptophan-ketoglutarate (HTK) solution versus Modified St. Thomas' (STH) solution in pediatric cardiac surgery of Tetralogy of Fallot (TOF). Seventy-seven pediatric patients of TOF who received the total surgical repair were reviewed, from January 2014 to October 2015. A horizontal comparison between HTK solution and modified STH solution has been made since the HTK solutions were started to be used in our hospital. The patients were divided into the HTK group (n = 35) and the STH group (n = 33). The perioperative values of the groups were assessed in this study. The primary endpoints including spontaneous cardiac re-beating time, intensive care unit (ICU) stay, overall stay, mechanical ventilation postoperation, postoperation stay, overall stay, and perioperative echocardiographic results were analyzed in this study. We found that spontaneous cardiac re-beating time of the HTK group was significantly shorter than that of the STH group (0.26 min ± 0.56 vs. 1.33 ± 1.02, P < 0.001). There were no significant differences between the two groups in ICU stay (P = 0.29), postoperative mechanical ventilation time (P = 0.84), overall stay (0.73); and the mortalities of the two groups were similar (2.9 vs. 3.0%). Aimed at pediatric cardiac surgery of TOF, this study suggests that with similar aorta cross-clamping time, modified STH solution is as safe as HTK solution.

PMID: 27878830 [PubMed - indexed for MEDLINE]

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Pulmonary Arterial Hypertension Complicating Congenital Heart Disease: Advances in Therapy.

Semin Respir Crit Care Med. 2017 Oct;38(5):636-650

Authors: Nashat H, Brida M, Price LS, McCabe C, Alonso-Gonzalez R, Wort SJ, Kempny A, Dimopoulos K, Gatzoulis MJ

PMID: 29032566 [PubMed - in process]

Where Is the "Optimal" Fontan Hemodynamics?

Korean Circ J. 2017 Sep 18;:

Authors: Ohuchi H

Abstract
Fontan circulation is generally characterized by high central venous pressure, low cardiac output, and slightly low arterial oxygen saturation, and it is quite different from normal biventricular physiology. Therefore, when a patient with congenital heart disease is selected as a candidate for this type of circulation, the ultimate goals of therapy consist of 2 components. One is a smooth adjustment to the new circulation, and the other is long-term circulatory stabilization after adjustment. When either of these goals is not achieved, the patient is categorized as having "failed" Fontan circulation, and the prognosis is dismal. For the first goal of smooth adjustment, a lot of effort has been made to establish criteria for patient selection and intensive management immediately after the Fontan operation. For the second goal of long-term circulatory stabilization, there is limited evidence of successful strategies for long-term hemodynamic stabilization. Furthermore, there have been no data on optimal hemodynamics in Fontan circulation that could be used as a reference for patient management. Although small clinical trials and case reports are available, the results cannot be generalized to the majority of Fontan survivors. We recently reported the clinical and hemodynamic characteristics of early and late failing Fontan survivors and their association with all-cause mortality. This knowledge could provide insight into the complex Fontan pathophysiology and might help establish a management strategy for long-term hemodynamic stabilization.

PMID: 29035429 [PubMed - as supplied by publisher]

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Risk Factors and Clinical Significance of Lymphopenia in Survivors of the Fontan Procedure for Single-Ventricle Congenital Cardiac Disease.

J Allergy Clin Immunol Pract. 2016 May-Jun;4(3):491-6

Authors: Morsheimer MM, Rychik J, Forbes L, Dodds K, Goldberg DJ, Sullivan K, Heimall JR

Abstract
BACKGROUND: Congenital cardiac anomalies are associated with immunologic perturbations. Surgical thymectomy, thoracic duct manipulation, and protein- losing enteropathy (PLE), a condition related to stressed Fontan hemodynamics, presumably contribute to low peripheral absolute lymphocyte counts (ALCs) and quantitative immunoglobulins. Clinical significance of lymphopenia and hypogammaglobulinemia in single-ventricle survivors requires additional study.
OBJECTIVE: Although immunologic laboratory anomalies are common in this population, we hypothesize that clinically significant immunodeficiency requiring intervention is rarely required.
METHODS: A retrospective chart review of the immunologic parameters of patients enrolled in the Single Ventricle Survivorship Program (SVSP) at the Children's Hospital of Philadelphia was performed.
RESULTS: The age range of the 178 SVSP patients was 3 to 26 years, with a median of 10.8 years. Most of the SVSP patients had some degree of lymphopenia. In the non-PLE group, the range of ALCs varied from 530 to 5322 cells/μL, with 17 patients without PLE maintaining an ALC of less than 1000 cells/μL. Among those with PLE, the median ALC and the IgG level were lower (672 cells/μL and 200 mg/dL, respectively) than in those without (1610 cells/μL and 868 mg/dL, respectively). Despite lymphopenia in the majority, few were severely clinically affected: 24% had delayed clearance of cutaneous viral infections, 63% had atopy, and 1 died of EBV-associated Hodgkin lymphoma. Immunoglobulin replacement was clinically indicated for 3 patients, 1 of whom had common variable immunodeficiency. Four patients with normal splenic function were treated with daily antibiotic prophylaxis.
CONCLUSIONS: Patients with repaired single-ventricle physiology often demonstrate T-cell lymphopenia and hypogammaglobulinemia. A significant portion of patients without PLE also have lymphopenia. The most common clinical manifestation was delayed clearance of cutaneous viral infections, but significant systemic opportunistic infections were not seen despite laboratory abnormalities and lack of antimicrobial prophylaxis.

PMID: 26897303 [PubMed - indexed for MEDLINE]

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Maternal hyperhomocysteinemia and congenital heart defects: A prospective case control study in Indian population.

Indian Heart J. 2017 Jan - Feb;69(1):17-19

Authors: Malik RA, Lone MR, Ahmed A, Koul KA, Malla RR

Abstract
OBJECTIVE: Very few studies have been conducted in this part of world to identify relation between maternal serum homocysteine levels and congenital heart disease in their offsprings. With this perspective in mind, this study was carried out.
METHODS: Fifty women were enrolled in this study. Thirty of these had delivered neonates who were diagnosed to have congenital heart diseases. These were treated as cases. Twenty of these women had delivered neonates who did not have any congenital heart diseases and were treated as controls. For estimating the levels of plasma homocysteine, fasting blood samples were taken from the women in both groups.
RESULTS: Out of 30 cases, 14 (46.6%) had a tHcy level more than 15μmol/l and all these women had delivered babies who were found to have congenital heart diseases. Out of controls, only 3 (15%) had a tHcy level more than 15μmol/l. In babies with ventricular septal defects, the mean maternal plasma tHcy level was 13.30μmol/l. In babies with Tetralogy of Fallot, the mean maternal plasma tHcy level was 40.07μmol/l. In babies with Transposition of Great Vessels, the mean maternal plasma tHcy level was 40.93μmol/l. In babies with Tricuspid atresia, the mean maternal plasma tHcy level was 24.89μmol/l.
CONCLUSIONS: Increased levels of maternal serum homocysteine are associated with increased risk of occurrence of congenital heart defects in their offsprings, suggesting that maternal hyperhomocysteinemia is an independent risk factor for congenital heart defects.

PMID: 28228299 [PubMed - indexed for MEDLINE]

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TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population.

Genet Test Mol Biomarkers. 2017 May;21(5):312-315

Authors: Yang L, Gao X, Luo H, Huang Q, Su D, Tan X, Lu C

Abstract
AIMS: TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear.
METHODS: A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects. The genotype frequency of rs12190287 polymorphisms was determined by real-time polymerase chain reaction.
RESULTS: There were significant differences in the genotype and allele frequencies of rs12190287 between the cases and controls in a Chinese population. Allele G of rs12190287 was significantly associated with an increased risk of VSD in a Chinese population.
CONCLUSIONS: Our results demonstrate that rs12190287 polymorphisms confer predisposition to VSDs in the Chinese population studied here.

PMID: 28346832 [PubMed - indexed for MEDLINE]

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Heart transplantation using a donor with partial anomalous pulmonary venous connection and atrial septal defect.

Interact Cardiovasc Thorac Surg. 2017 Jun 01;24(6):978-979

Authors: de Beco G, Duisit J, Poncelet AJ

Abstract
Over the last decade, the shortage of donors has led to increased waiting time prior to transplantation and its related mortality. Therefore, extended criteria for donor hearts have been proposed. In this report, we describe a successful transplantation despite a diagnosis of partial abnormal pulmonary venous return associated with an atrial septal defect sinus venosus and persisting left-sided superior vena cava. Knowledge in congenital cardiac disease can broaden the definition of 'marginal' donor hearts and allow their use without increasing the risk of transplantation.

PMID: 28379508 [PubMed - indexed for MEDLINE]

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