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Congenital heart diseases

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
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
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
Naveena Jagadeeshan, Shilpa Jayaprakash, Raghu Thagachagere Ramegowda, Cholenahally Nanjappa Manjunath, V Lavanya
Corynebacterium striatum (C. striatum) is a ubiquitous saprophyte with a potential to cause bacteremia. We report the first case of C. striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease.
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
Manavi Tyagi, Theodora Fteropoulli, Catherine S Hurt, Shashivadan P Hirani, Lorna Rixon, Anna Davies, Nathalie Picaut, Fiona Kennedy, John Deanfield, Shay Cullen, Stanton P Newman
OBJECTIVE: We carried out a cross-sectional study to assess cognitive function in a sample of adult CHD patients, within the Functioning in Adult Congenital Heart Disease study London. The association between cognitive functioning and disease complexity was examined. METHODS: A total of 310 patients participated in this study. Patients were classified into four structural complexity groups - tetralogy of Fallot, transposition of the great arteries, single ventricle, and simple conditions...
October 18, 2016: Cardiology in the Young
Tanja Radovanovic, Slobodan Spasojevic, Vesna Stojanovic, Aleksandra Doronjski
INTRODUCTION: An apparent life-threatening event (ALTE) is defined as "an episode that is frightening to the observer and is characterized by some combination of apnea, color change, marked change of muscle tone, choking, or gagging." OBJECTIVE: The aims of this study were to determine etiology and outcome of severe ALTE (requiring resuscitation measures) and to review diagnostic approaches in infants hospitalized after such an episode of ALTE. METHODS: Retrospective analysis included patients hospitalized at the Intensive Care Unit, Institute of Child and Youth Healthcare of Vojvodina, after an episode of severe ALTE over a 4-year period...
September 30, 2016: Pediatric Emergency Care
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
Kirsten C Odegard, Robert Vincent, Rahul G Baijal, Suanne M Daves, Robert G Gray, Alexander J Javois, Barry A Love, Philip Moore, David Nykanen, Lori Q Riegger, Scott G Walker, Elizabeth C Wilson
Current practice of sedation and anesthesia for patients undergoing pediatric and congenital cardiac catheterization laboratory (PCCCL) procedures is known to vary among institutions, a multi-society expert panel with representatives from the Congenital Heart Disease Council of the Society for Cardiovascular Angiography and Interventions, the Society for Pediatric Anesthesia and the Congenital Cardiac Anesthesia Society was convened to evaluate the types of sedation and personnel necessary for procedures performed in the PCCCL...
October 3, 2016: Anesthesia and Analgesia
Barakat Adeola Animasahun, Akpoembele D Madise-Wobo, Bode A Falase, Samuel I Omokhodion
BACKGROUND: There are only very few reports on Fallot's tetralogy in Africa especially from sub-Saharan Africa. At best tetralogy of Fallot (TOF) is only mentioned as part of reports of surveys of other congenital heart diseases or as case reports in the region. There has been no report on cohorts of children with TOF in West Africa. This article describes the pattern and presentation of children diagnosed with TOF patients in a tertiary hospital in sub-Saharan Africa over a 9-year period...
October 2016: Cardiovascular Diagnosis and Therapy
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