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Congenital heart defects

Carlos Fernandez-Patron, Zamaneh Kassiri, Dickson Leung
Matrix metalloproteinase-2 (MMP-2) is a 72-kDa zinc- and calcium-dependent endopeptidase with intracellular and extracellular functions ranging from the modulation of extracellular matrix remodeling to cell growth and migration, angiogenesis, inflammation, and metabolism. An upregulation of MMP-2 activity has the potential to deregulate lipid metabolism through the cleavage of numerous metabolic mediators including plasma lipoproteins and cell surface receptors of lipoproteins. Paradoxically, MMP-2 deficiency induces inflammation and deregulates metabolism...
September 15, 2016: Comprehensive Physiology
Séverine Deguen, Wahida Kihal, Maxime Jeanjean, Cindy Padilla, Denis Zmirou-Navier
BACKGROUND: We conducted this systematic review and meta-analysis to address the open question of a possible association between the socioeconomic level of the neighborhoods in which pregnant women live and the risk of Congenital Heart Defects (CHDs), Neural Tube Defects (NTDs) and OroFacial Clefts (OFCs). METHODS: We searched MEDLINE from its inception to December 20th, 2015 for case-control, cohort and ecological studies assessing the association between neighborhood socioeconomic level and the risk of CHDs, NTDs and the specific phenotypes Cleft Lip with or without Cleft Palate (CLP) and Cleft Palate (CP)...
2016: PloS One
Mathew George, John Amodio, Haesoon Lee
Subpleural lung cysts (SPC) are seen in children with Down syndrome (DS). The incidence and the long term course of these lesions are not known. It is important for pediatricians and pediatric radiologists to be aware of these lung lesions since the DS patients' longevity has increased and they have greater frequency to encounter the clinicians. Autopsy and the radiology series have shown that these lesions are often found in association with congenital heart disease, particularly the endocardial cushion defect and prematurity...
2016: Case Reports in Pediatrics
Rogier J Vogels, Christophe P Teuwen, Tanwier T T K Ramdjan, Reinder Evertz, Paul Knops, Maarten Witsenburg, Jolien W Roos-Hesselink, Ad J J C Bogers, Natasja M S de Groot
Fragmented QRS complexes (fQRS) on 12-lead electrocardiogram are known predictors of ventricular tachyarrhythmia (VTA) in patients with coronary artery disease. There is limited knowledge of the clinical implications of fQRS in patients with congenital heart defects (CHD). Aims of this study were to examine (1) the occurrence of fQRS in patients with various types of CHD and (2) whether fQRS is associated with development of VTA. This study was designed as retrospective case-control study. Patients with CHD with VTA were included and matched with control patients of the same age, gender, and CHD type...
September 30, 2016: American Journal of Cardiology
Masoumeh Ghafarzadeh, Mehrdad Namdari, Ali Eatemadi
Congenital heart disease (CHD) is the most prevalent congenital anomaly in newborn babies. Cardiac malformations have been induced in different animal model experiments, by perturbing some molecules that take part in the developmental pathways associated with myocyte differentiation, specification, or cardiac morphogenesis. The exact epigenetic, environmental, or genetic, basis for these molecules perturbations is yet to be understood. But, scientist have bridged this gap by introducing autologous stem cell into the defective hearts to treat CHD...
October 22, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Gianluca Lucchese, Lucia Rossetti, Giuseppe Faggian, Giovanni B Luciani
Temporary tricuspid valve detachment improves the operative view of certain congenital ventricular septal defects (VSDs), but its long-term effects on tricuspid valve function are still debated. From 2002 through 2012, we performed a prospective study of 68 children (mean age, 1.28 ± 1.01 yr) who underwent transatrial closure of VSDs following temporary tricuspid valve detachment. Sixty patients had conoventricular and 8 had mid-muscular VSDs. All were in sinus rhythm. Seventeen patients had systemic pulmonary artery pressures...
October 2016: Texas Heart Institute Journal
Enkhee Ochirjav, M Tsetsegdelger, B Tuul, D Batbaatar
No abstract text is available yet for this article.
February 2016: Pathology
Ganesh Kumar Gnanappa, Karina Laohachai, Yishay Orr, Julian Ayer
Anomalous origin of a branch pulmonary artery from the aorta is a rare malformation, accounting for 0.12% of all congenital heart defects. Anomalous origin of the left pulmonary artery from the aorta (ALPA) constitutes a small proportion of these cases. ALPA has been reported to arise from the ascending aorta with various embryologic postulates. We report a case of isolated ALPA arising from the descending aorta in association with a patent ductus arteriosus, to emphasize its embryologic ambiguity.
November 2016: Annals of Thoracic Surgery
Daniel Verdini, Daniel Vargas, Anderson Kuo, Brian Ghoshhajra, Phillip Kim, Horacio Murillo, Jacobo Kirsch, Michael Lane, Carlos Restrepo
PURPOSE: Coronary-pulmonary arterial fistulas (CPAFs) are rare coronary artery anomalies that have been described only in limited case reports. This study aims to evaluate the clinical presentation and imaging findings of CPAFs collected from 6 participating medical centers along with CPAFs reported in the literature, to discern any general trends present in CPAFs. MATERIALS AND METHODS: A total of 25 cases of CPAF diagnosed by coronary computed tomography angiography were collected across 6 participating institutions...
November 2016: Journal of Thoracic Imaging
Breanna L Alman, Evan Coffman, Anna Maria Siega-Riz, Thomas J Luben
BACKGROUND: Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. METHODS: We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Wasay M Shaikh Qureshi, Lianjie Miao, David Shieh, Jingjing Li, Yangyang Lu, Saiyang Hu, Margarida Barroso, Joseph Mazurkiewicz, Mingfu Wu
Single clonal tracing and analysis at the whole-heart level can determine cardiac progenitor cell behavior and differentiation during cardiac development, and allow for the study of the cellular and molecular basis of normal and abnormal cardiac morphogenesis. Recent emerging technologies of retrospective single clonal analyses make the study of cardiac morphogenesis at single cell resolution feasible. However, tissue opacity and light scattering of the heart as imaging depth is increased hinder whole-heart imaging at single cell resolution...
October 7, 2016: Journal of Visualized Experiments: JoVE
Xiaojing Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H Finnell, Zhangmin Yang, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang
The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3 , one family of the core PCP genes, in human cohorts composed of 352 NTD cases, 412 CHD cases, and matched controls. A total of 72 disease-specific rare novel coding mutations were identified, of which 37 were identified in CHD cases, and 36 were identified in NTD patients...
October 18, 2016: Clinical Science (1979-)
Nathan R Tucker, Saagar Mahida, Jiangchuan Ye, Elizabeth J Abraham, Julie A Mina, Victoria A Parsons, Michael A McLellan, Marisa A Shea, Alan Hanley, Emelia J Benjamin, David J Milan, Honghuang Lin, Patrick T Ellinor
BACKGROUND: The genetic basis of atrial fibrillation (AF) and congenital heart disease remains incompletely understood. OBJECTIVE: We sought to determine the causative mutation in a family with AF, atrial septal and ventricular septal defects. METHODS: We evaluated a pedigree with 16 family members, one with an atrial septal defect, one with a ventricular septal defect and three with AF; we performed whole exome sequencing in three affected family members...
October 15, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Fabio de Araujo Motta, Libera Maria Dalla-Costa, Marisol Dominguez Muro, Andrea Lenzi, Gledson Luiz Picharski, Marion Burger
BACKGROUND: Candida species are the primary cause of invasive fungal infection in hospitalized children. There are few data on risk factors for postoperative candidemia in pediatric patients with congenital heart defects. This study aimed to identify risk factors for candidemia in patients with congenital heart defects who underwent cardiac surgery. METHODS: This was a case-control study conducted in patients admitted to a pediatric cardiology intensive care unit from January 2006 to December 2013...
November 2016: Pediatric Infectious Disease Journal
Bin Zhang, Jinzhu Zhao, Rong Yang, Zhengmin Qian, Shengwen Liang, Bryan A Bassig, Yiming Zhang, Ke Hu, Shunqing Xu, Guanghui Dong, Tongzhang Zheng, Shaoping Yang
The objective of this study was to evaluate whether high levels of maternal exposure to O3, SO2, NO2, CO are related to increased risk of congenital heart defects (CHDs) in Wuhan, China. The study included mothers living in the central districts of Wuhan during pregnancy over the two-year period from June 10, 2011 to June 9, 2013. For each study participant, we assigned 1-month averages of O3, SO2, NO2 and CO exposure based on measurements obtained from the nearest exposure monitor to the living residence of mothers during their early pregnancy period...
October 18, 2016: Scientific Reports
Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Tatsuki Oyoshi, Nayuta Higa, Hiroshi Tokimura, Kazunori Arita, Toshiyuki Yamamoto
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones...
October 14, 2016: European Journal of Medical Genetics
Sudip Dutta Baruah, Ashutosh Marwah, Bharat Dalvi, Rajesh Sharma
Successful repair of congenitally corrected transposition with ventricular septal defect and pulmonary stenosis presenting with heart failure in the fifth decade of life is described. This is the oldest patient to undergo this surgery, as per existing literature.
September 2016: Indian Heart Journal
Jagdish C Mohan, Vishwas Mohan, Madhu Shukla, Arvind Sethi
Hypoplastic right heart syndrome is a rare cyanotic congenital heart disease with under-development of the right ventricle, tricuspid, and pulmonary valves leading to right-to-left shunting of the blood through inter-atrial septal defect. Perinatal mortality is high with very few patients surviving to adulthood without corrective surgery. This report describes a 26-year-old young woman, who had recurrent abortions and stillbirths and detected to have marked cyanosis with hypoplastic right heart, sub-arterial ventricular septal defect, absent pulmonary valve, non-compaction of the left ventricle, and bicuspid aortic valve with aortic regurgitation...
September 2016: Indian Heart Journal
Jagdish C Mohan, Madhu Shukla, Vishwas Mohan, Arvind Sethi
Parachute mitral valve and Pacman heart (incomplete muscular ventricular septal defect) are rare congenital deformities usually reported in infants and children. Very few adult patients with these anomalies are reported but the association of the two has not been described. This report describes a 56-year-old male with exertional dyspnea who was detected to have moderately severe mitral regurgitation and mitral stenosis. Typical parachute deformity of the mitral valve with a reduced opening and common attachment of all the chordae to a single posteromedial papillary muscle was evident...
September 2016: Indian Heart Journal
Ana L Neves, Tiago Henriques-Coelho, Adelino Leite-Moreira, José C Areias
OBJECTIVE: The aim of this article is to evaluate the clinical utility of brain natriuretic peptide in pediatric patients, examining the diagnostic value, management, and prognostic relevance, by critical assessment of the literature. DATA SOURCES: In December 2015, a literature search was performed (PubMed access to MEDLINE citations; and included these Medical Subject Headings and text terms for the key words: "brain natriuretic peptide," "amino-terminal pro-brain natriuretic peptide," "children," "neonate/s," "newborn/s," "infant/s," and "echocardiography...
September 30, 2016: Pediatric Critical Care Medicine
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