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Congenital heart

Lijiang Ma, Wendy K Chung
Group 1 pulmonary hypertension or pulmonary arterial hypertension (PAH) is a rare disease characterized by proliferation and occlusion of small pulmonary arterioles, leading to progressive elevation of pulmonary artery pressure and pulmonary vascular resistance, and right ventricular failure. Historically it has been associated with a high mortality rate, although over the last decade, treatment has improved survival. PAH includes idiopathic PAH (IPAH), heritable PAH (HPAH), and PAH associated with certain medical conditions...
October 22, 2016: Journal of Pathology
K L Yew, Z Kang, A Anum
Coronary artery anomalies are often discovered incidentally during cardiac catheterization or computed tomography coronary angiography and may involve the affected coronary artery origin and its course. Coronary artery anomalies are associated with congenital heart disease. The affected coronary arteries may have an unusual high take off origin, origin from contralateral or non-coronary sinus, origin from the pulmonary artery, single coronary system or coronary artery fistula.
August 2016: Medical Journal of Malaysia
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
Amee M Bigelow, Brandon S Arnold, Gregory C Padrutt, John M Clark
In current practice, children with anatomically normal hearts routinely undergo fluoroscopy-free ablations. Infants and children with congenital heart disease (CHD) represent the most difficult population to perform catheter ablation without fluoroscopy. We report two neonatal patients with CHD in whom cardiac ablations were performed without fluoroscopy. The first infant had pulmonary atresia with intact ventricular septum with refractory supraventricular tachycardia, and the second infant presented with Ebstein's anomaly of the tricuspid valve along with persistent supraventricular tachycardia...
October 21, 2016: Cardiology in the Young
Abraham Speedie, Cinosh Mathew, Rashmi Kerr, Rajneesh Calton
Coronary artery anomalies include anomalies of origin, termination, structure or course. Coronary artery fistulae (CAF) are classified as abnormalities of termination and are considered a major congenital anomaly. A coronary artery fistula involves a sizable communication between a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or a great vessel. Bilateral coronary artery fistula, are a rare variant. We describe a bilateral CAF with angina and significant coronary artery disease requiring percutaneous coronary intervention...
August 2016: Journal of the Association of Physicians of India
Mahmood D Al-Mendalawi, Hany M Abo-Haded
[No abstract available].
November 2016: Saudi Medical Journal
H Kaemmerer, C Apitz, K Brockmeier, A Eicken, M Gorenflo, A Hager, F deHaan, M Huntgeburth, R Kozlik-Feldmann, O Miera, G P Diller
The 2015 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension are also valid for Germany. The guidelines contain detailed recommendations for different forms of PH, and specifically address PH associated with congenital heart disease (CHD). However, the practical implementation of the European Guidelines in Germany requires the consideration of several country-specific issues and already existing novel data. This requires a detailed commentary to the guidelines, and in some aspects an update already appears necessary...
October 2016: Deutsche Medizinische Wochenschrift
Christoph Preuss, Melanie Capredon, Florian Wünnemann, Philippe Chetaille, Andrea Prince, Beatrice Godard, Severine Leclerc, Nara Sobreira, Hua Ling, Philip Awadalla, Maryse Thibeault, Paul Khairy, Mark E Samuels, Gregor Andelfinger
Left-ventricular outflow tract obstructions (LVOTO) encompass a wide spectrum of phenotypically heterogeneous heart malformations which frequently cluster in families. We performed family based whole-exome and targeted re-sequencing on 182 individuals from 51 families with multiple affected members. Central to our approach is the family unit which serves as a reference to identify causal genotype-phenotype correlations. Screening a multitude of 10 overlapping phenotypes revealed disease associated and co-segregating variants in 12 families...
October 2016: PLoS Genetics
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
Olga Trojnarska, Ludwina Szczepaniak-Chicheł, Marcin Gabriel, Agnieszka Bartczak-Rutkowska, Joanna Rupa-Matysek, Andrzej Tykarski, Stefan Grajek
BACKGROUND: Mortality in cyanotic patients with congenital heart diseases (CHD) is high, mainly due to cardiovascular complications. It is known that endothelial dysfunction, increased arterial stiffness, and impaired vascular function have negative influence on cardiovascular prognosis. The aim of the study was to assess parameters of arterial stiffness and vascular dysfunction in cyanotic patients with CHD as well as their potential relation to impaired blood oxygen saturation and polycythemia parameters typical for cyanosis...
October 15, 2016: Journal of Cardiology
Pedro Pallangyo, Isaac Mawenya, Paulina Nicholaus, Henry Mayala, Amida Kalombola, Godwin Sharau, Naiz Majani, Mohamed Janabi
BACKGROUND: Congenital complete heart block is a life-threatening condition which is highly associated with autoimmune and connective tissue disorders. Presence of maternal autoantibodies for associated conditions increases the risk of delivering a child with congenital complete heart block, however, less than a half of all women with such antibodies are symptomatic even after delivery. Mortality rate is highest during the neonatal period (45 %) and about two-thirds of all cases will require permanent pacing at some point in their lives...
October 19, 2016: Journal of Medical Case Reports
Kyoung Im Cho, Min Gu Chon
OBJECTIVE: Inhaled ilroprost can improve clinical status and symptoms in Eisenmenger syndrome (ES). Right ventricular (RV) function is important prognostic factor of pulmonary arterial hypertension. But there has been insufficient data in echocardiographic parameters related to RV function after long term iloprost therapy. So we evaluated effect of long term iloprost treatment on RV function and other parameters measured by echocardiography in this study. DESIGN AND METHOD: Eleven consecutive patients with ES associated with congenital heart disease underwent echocardiographic measurements at baseline and 48 weeks after iloprost therapy...
September 2016: Journal of Hypertension
Abby Li, Daniel Y Wang, Krista L Lanctôt, Ian Mitchell, Bosco A Paes
BACKGROUND: Respiratory syncytial virus hospitalization (RSVH) rates in children less than <2 years of age with hemodynamically significant congenital heart disease (HSCHD) are 2-4 fold higher compared with healthy term infants. Pediatric recommendations differ as to whether palivizumab is beneficial beyond 1 year of age. The objective was to determine whether differences exist in respiratory-related illness hospitalization (RIH) and RSVH in HSCHD infants receiving palivizumab during the first year versus second year of life in the Canadian Registry of Palivizumab (CARESS)...
October 6, 2016: Pediatric Infectious Disease Journal
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
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS: A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
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