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https://www.readbyqxmd.com/read/28318658/sudden-death-in-athletes
#1
Domenico Corrado, Alessandro Zorzi
Competitive sports activity is associated with an increased risk of sudden cardiovascular death (SCD) in adolescents and young adults with clinically silent cardiovascular disorders. While in middle-aged/senior athletes atherosclerotic coronary artery disease accounts for the vast majority of SCDs, in young athletes the spectrum of substrates is wider and includes inherited (cardiomyopathies) and congenital (anomalous origin of coronary arteries) structural heart diseases. Inherited ion channel diseases have been implicated in SCDs occurring with an apparently normal heart at autopsy...
March 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28318514/incorporating-comorbidity-within-risk-adjustment-for-uk-pediatric-cardiac-surgery
#2
Katherine L Brown, Libby Rogers, David J Barron, Victor Tsang, David Anderson, Shane Tibby, Thomas Witter, John Stickley, Sonya Crowe, Kate English, Rodney C Franklin, Christina Pagel
BACKGROUND: When considering early survival rates after pediatric cardiac surgery it is essential to adjust for risk linked to case complexity. An important but previously less well understood component of case mix complexity is comorbidity. METHODS: The National Congenital Heart Disease Audit data representing all pediatric cardiac surgery procedures undertaken in the United Kingdom and Ireland between 2009 and 2014 was used to develop and test groupings for comorbidity and additional non-procedure-based risk factors within a risk adjustment model for 30-day mortality...
March 15, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28318513/improving-risk-adjustment-for-mortality-after-pediatric-cardiac-surgery-the-uk-prais2-model
#3
Libby Rogers, Katherine L Brown, Rodney C Franklin, Gareth Ambler, David Anderson, David J Barron, Sonya Crowe, Kate English, John Stickley, Shane Tibby, Victor Tsang, Martin Utley, Thomas Witter, Christina Pagel
BACKGROUND: Partial Risk Adjustment in Surgery (PRAiS), a risk model for 30-day mortality after children's heart surgery, has been used by the UK National Congenital Heart Disease Audit to report expected risk-adjusted survival since 2013. This study aimed to improve the model by incorporating additional comorbidity and diagnostic information. METHODS: The model development dataset was all procedures performed between 2009 and 2014 in all UK and Ireland congenital cardiac centers...
March 15, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28318457/school-related-adjustment-in-children-and-adolescents-with-chd
#4
Yu-Mi Im, Sunhee Lee, Tae-Jin Yun, Jae Young Choi
Advancements in medical and surgical treatment have increased the life expectancy of patients with CHD. Many patients with CHD, however, struggle with the medical, psychosocial, and behavioural challenges as they transition from childhood to adulthood. Specifically, the environmental and lifestyle challenges in school are very important factors that affect children and adolescents with CHD. This study aimed to evaluate school-related adjustments depending on school level and disclosure of disease in children and adolescents with CHD...
March 20, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28318089/a-cacna1d-mutation-in-a-patient-with-persistent-hyperinsulinaemic-hypoglycaemia-heart-defects-and-severe-hypotonia
#5
S E Flanagan, F Vairo, M B Johnson, R Caswell, T W Laver, H Lango Allen, K Hussain, S Ellard
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guide medical management and will provide valuable insights into β-cell physiology. We sequenced the exome of a child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay as well as the unaffected parents...
March 20, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28317159/surgical-planning-for-a-complex-double-outlet-right-ventricle-using-3d-printing
#6
Puneet Bhatla, Justin T Tretter, Sathish Chikkabyrappa, Sujata Chakravarti, Ralph S Mosca
Rapid prototyping may be beneficial in properly selected cases of complex congenital heart disease, providing detailed anatomical understanding that helps to guide potential surgical and cardiac catheterization interventions. We present a case of double-outlet right ventricle, where the decision to obtain a three-dimensional printed model helped for better understanding of the anatomy, with the additional advantage of surgical simulation in planning the surgical approach and type of surgical repair.
March 19, 2017: Echocardiography
https://www.readbyqxmd.com/read/28316101/n-terminal-pro-b-type-natriuretic-peptide-and-phonocardiography-in-differentiating-innocent-cardiac-murmurs-from-congenital-cardiac-anomalies-in-asymptomatic-puppies
#7
S M Marinus, H van Engelen, V Szatmári
BACKGROUND: Differentiating innocent cardiac murmurs from murmurs caused by congenital cardiac anomalies can be challenging with auscultation alone in asymptomatic puppies. HYPOTHESIS: Plasma N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentrations and phonocardiograms recorded by an electronic stethoscope can differentiate innocent from pathologic cardiac murmurs. ANIMALS: A total of 186 client-owned asymptomatic dogs: 135 Cairn Terriers (age: 45-124 days), 20 adult Cairn Terriers (age: 7...
March 18, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28315668/cmybp-c-was-decreased-via-klhl3-mediated-proteasomal-degradation-in-congenital-heart-diseases
#8
Leitong Wang, Guangrui Lai, Guoming Chu, Xiaoyan Liang, Yanyan Zhao
Cardiac myosin binding protein C (cMyBP-C) is a cardiac structural and regulatory protein; mutations of cMyBP-C are frequently associated with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Cardiac special transcription factors may regulate the expression of cMyBP-C. However, the role of cMyBP-C in congenital heart diseases (CHD) remains poorly understood. In the current study, western blotting and the MRM approach showed that cMyBP-C expression was significantly reduced in fetuses with CHD compared to those without...
March 15, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28315566/directly-ventricular-septal-defect-closure-without-using-arteriovenous-wire-loop-our-adult-case-series-using-transarterial-retrograde-approach
#9
Nihat Pekel, Ertuğrul Ercan, Mehmet Emre Özpelit, Ferhat Özyurtlu, Akar Yılmaz, Caner Topaloğlu, Serkan Saygı, Serkan Yakan, İstemihan Tengiz
OBJECTIVE: The standard transcatheter ventricular septal defects (VSD) closure procedure is established with arteriovenous (AV) loop and is called as antegrade approach. The directly retrograde transarterial VSD closure without using AV loop might be better option as shortens the procedure time and decreases radiation exposure. METHODS: Our series consist of twelve sequential adult cases with congenital VSDs (seven with perimembranous, four with muscular, one with postoperative residuel VSD)...
February 21, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28314706/characteristics-and-outcomes-of-heart-failure-related-hospitalization-in-adults-with-congenital-heart-disease
#10
Nidhal Ben Moussa, Clement Karsenty, Florence Pontnau, Sophie Malekzadeh-Milani, Younes Boudjemline, Antoine Legendre, Damien Bonnet, Laurence Iserin, Magalie Ladouceur
BACKGROUND: Heart failure (HF) is the main cause of death in adult congenital heart disease (ACHD). AIMS: We aimed to characterize HF-related hospitalization of patients with ACHD, and to determine HF risk factors and prognosis in this population. METHODS: We prospectively included 471 patients with ACHD admitted to our unit over 24 months. Clinical and biological data and HF management were recorded. Major cardiovascular events were recorded for ACHD with HF...
March 14, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28314527/current-and-future-trends-in-coagulation-management-for-congenital-heart-surgery
#11
EDITORIAL
Erin A Gottlieb, Dean B Andropoulos
No abstract text is available yet for this article.
February 16, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28314442/-adult-congenital-heart-disease-medical-and-psychosocial-issues
#12
Magalie Ladouceur, Florence Pontnau, Laurence Iserin
The population of adults with congenital heart disease (ACHD) is continuously increasing with now a higher prevalence than that of the pediatric population. This concerns above all complex congenital heart diseases. Heart failure is the primary cause of death followed by arrhythmia, which is very common in ACHD. A specialized follow-up by dedicated centers is significantly associated with an improvement of survival of ACHD patients compared to non-expert follow-up. Extracardiac disorders (liver, kidney, respiratory) are frequent and require an accurate and specific management...
March 14, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28306681/anesthesia-in-adults-with-congenital-heart-disease
#13
Torsten Baehner, Richard K Ellerkmann
PURPOSE OF REVIEW: The current review focuses on patients with congenital heart disease (CHD) with regard to recent trends in global demographics, healthcare provision for noncardiac surgery, as well as anesthetic and perioperative care for these patients. RECENT FINDINGS: About 40 years after milestones of surgical innovation in CHD, the number of adults with CHD (ACHD) now surpasses those of children with CHD. This development leads to the fact that even patients with complex CHD managed for noncardiac surgery are not restricted to highly specialized centers...
March 16, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28306488/spinal-neurenteric-cyst-in-a-dog
#14
Daniela S Alder, Anna Oevermann, Stephan A Pfister, Frank Steffen
CASE DESCRIPTION An 11-year-old English Cocker Spaniel was evaluated because of chronic progressive ataxia of the hind limbs. CLINICAL FINDINGS The dog had no history of previous illness, and findings of physical examination and laboratory tests were unremarkable. Neurologic examination revealed that the dog was ambulatory with severe ataxia of the hind limbs. Proprioception was decreased in the right and left hind limbs (right affected more than left), and spinal reflexes were bilaterally unremarkable. Moderate signs of pain were detected during palpation of the lumbar portion of the vertebral column...
April 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28304193/peptidomic-analysis-of-fetal-heart-tissue-for-identification-of-endogenous-peptides-involved-in-tetralogy-of-fallot
#15
Jingjing Zhang, Dong Liang, Qing Cheng, Li Cao, Yun Wu, Yan Wang, Shuping Han, Zhangbin Yu, Xianwei Cui, Tianhui Xu, Dingyuan Ma, Ping Hu, Zhengfeng Xu
Tetralogy of fallot (TOF) is one of the most prevalent types of congenital heart diseases. As a category of bioactive molecules, peptides have been proved to participate in various biological processes. However, the role of endogenous peptides in the pathogenesis of TOF has not been studied. In this study, we performed a comparative peptidomic profile in the fetal heart of TOF and the control group for the first time by liquid chromatography-tandem mass spectrometry. Our data demonstrated that a total of 201 peptides derived from 176 precursor proteins were differentially expressed in the heart tissues of TOF fetuses compared with normal controls, including 41 upregulated peptides and 160 downregulated peptides...
March 17, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#16
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28302752/lower-circulating-folate-induced-by-a-fidgetin-intronic-variant-is-associated-with-reduced-congenital-heart-disease-susceptibility
#17
Dan Wang, Feng Wang, Kai-Hu Shi, Hui Tao, Yang Li, Rui Zhao, Han Lu, Wenyuan Duan, Bin Qiao, Shi-Min Zhao, Hongyan Wang, Jian-Yuan Zhao
Background -Folate deficiency is an independent risk factor for congenital heart disease (CHD); however, the maternal plasma folate level is paradoxically not a good diagnostic marker. Genome-wide surveys have identified variants of non-folate metabolic genes associated with the plasma folate level, suggesting that these genetic polymorphisms are potential risk factors for CHD. Methods -To examine the effects of folate concentration-related variations on CHD risk in the Han Chinese population, we performed three independent case-control studies including a total of 1,489 CHD patients and 1,745 controls...
March 16, 2017: Circulation
https://www.readbyqxmd.com/read/28302746/current-interventional-and-surgical-management-of-congenital-heart-disease-specific-focus-on-valvular-disease-and-cardiac-arrhythmias
#18
Kimberly A Holst, Sameh M Said, Timothy J Nelson, Bryan C Cannon, Joseph A Dearani
Successful outcome in the care of patients with congenital heart disease depends on a comprehensive multidisciplinary team. Surgery is offered for almost every heart defect, despite complexity. Early mortality for cardiac surgery in the neonatal period is ≈10% and beyond infancy is <5%, with 90% to 95% of patients surviving with a good quality of life into the adult years. Advances in imaging have facilitated accurate diagnosis and planning of interventions and surgical procedures. Similarly, advances in the perioperative medical management of patients, particularly with intensive care, has also contributed to improving outcomes...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28302745/current-status-and-future-potential-of-transcatheter-interventions-in-congenital-heart-disease
#19
Damien P Kenny, Ziyad M Hijazi
Percutaneous therapies for congenital heart disease have evolved rapidly in the past 3 decades. This has occurred despite limited investment from industry and support from regulatory bodies resulting in a lack of specific device development. Indeed, many devices remain off-label with a best-fit approach often required, spurning an innovative culture within the subspecialty, which had arguably laid the foundation for many of the current and evolving structural heart interventions. Challenges remain, not least encouraging device design focused on smaller infants and the inevitable consequences of somatic growth...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28302744/noninvasive-imaging-in-adult-congenital-heart-disease
#20
Luke J Burchill, Jennifer Huang, Justin T Tretter, Abigail M Khan, Andrew M Crean, Gruschen R Veldtman, Sanjiv Kaul, Craig S Broberg
Multimodality cardiovascular imaging plays a central role in caring for patients with congenital heart disease (CHD). CHD clinicians and scientists are interested not only in cardiac morphology but also in the maladaptive ventricular responses and extracellular changes predisposing to adverse outcomes in this population. Expertise in the applications, strengths, and pitfalls of these cardiovascular imaging techniques as they relate to CHD is essential. The purpose of this article is to provide an overview of cardiovascular imaging in CHD...
March 17, 2017: Circulation Research
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