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Hanrui Zhang
PURPOSE OF REVIEW: Lysosomal acid lipase (LAL), encoded by the LIPA gene, is an essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome. This review highlights the novel pathophysiological role of LAL, the functional genomic discoveries of LIPA as a risk locus for coronary heart diseases (CHD), and the clinical advance in therapies for LAL deficiency. RECENT FINDINGS: The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency...
March 15, 2018: Current Opinion in Lipidology
C Le Roy, G Larios, D Springmüller, C Clavería
INTRODUCTION: Children with congenital heart disease (CHD) present a high percentage of undern utrition and the interpretation of their nutritional assessment is difficult. OBJECTIVE: To describe the nutritional status of infants with CHD using two anthropometric classifications and compare them. PATIENTS AND METHOD: Non-concurrent cohort study. We studied children under 12 months under going cardiac surgery. We excluded preterm infants, small for gestational age, carriers of genetic syndrome or other disease with nutritional compromise...
December 2017: Revista Chilena de Pediatría
Wail Alkashkari, Amani Alsubei, Ziyad M Hijazi
PURPOSE OF REVIEW: The past couple of decades have brought tremendous advances to the field of pediatric and adult congenital heart disease (CHD). Percutaneous valve interventions are now a cornerstone of not just the congenital cardiologist treating patients with congenital heart disease, but also-and numerically more importantly-for adult interventional cardiologists treating patients with acquired heart valve disease. Transcatheter pulmonary valve replacement (tPVR) is one of the most exciting recent developments in the treatment of CHD and has evolved to become an attractive alternative to surgery in patients with right ventricular outflow tract (RVOT) dysfunction...
March 15, 2018: Current Cardiology Reports
Tetsuro Tsujimoto, Hiroshi Kajio, Martin F Shapiro, Takehiro Sugiyama
OBJECTIVE: To assess the relationship between use of β-blockers and all-cause mortality in patients with and without diabetes. PATIENTS AND METHODS: Using data from the US National Health and Nutrition Examination Survey 1999-2010, we conducted a prospective cohort study. The study participants were followed-up from the survey participation date until December 31, 2011. We used a Cox proportional hazards model for all-cause mortality analysis. The multivariate-adjusted hazard ratios (HRs) of the participants taking β-blockers were compared with those of the participants not taking β-blockers...
March 9, 2018: Mayo Clinic Proceedings
M Snaterse, J W Deckers, M J Lenzen, H T Jorstad, D De Bacquer, R J G Peters, C Jennings, K Kotseva, W J M Scholte Op Reimer
OBJECTIVE: We investigated smoking cessation rates in coronary heart disease (CHD) patients throughout Europe; current and as compared to earlier EUROASPIRE surveys, and we studied characteristics of successful quitters. METHODS: Analyses were done on 7998 patients from the EUROASPIRE-IV survey admitted for myocardial infarction, unstable angina and coronary revascularisation. Self-reported smoking status was validated by measuring carbon monoxide in exhaled air...
May 1, 2018: International Journal of Cardiology
Faisal Junejo, Mohammad Irfan Akhtar, Mohammad Hamid, Syed Shabbir Ahmed, Fauzia Minai, Muneer Amanullah
OBJECTIVE: To compare the intravenous boluses and intravenous continuous infusion of tranexamic acid (TXA) to reduce postoperative bleeding in cyanotic congenital heart disease surgeries. STUDY DESIGN: Single-blinded randomised clinical trial. PLACE AND DURATION OF STUDY: Anaesthesia Department, The Aga Khan University Hospital, Karachi, from July 2016 to April 2017. METHODOLOGY: Sixty patients of cyanotic congenital heart disease, undergoing either palliative or corrective surgery involving cardiopulmonary bypass (CPB), were recruited...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Alexander R Opotowsky, Jonathan Rhodes, Michael J Landzberg, Ami B Bhatt, Keri M Shafer, Doreen DeFaria Yeh, Scott E Crouter, Ana Ubeda Tikkanen
BACKGROUND: Cardiac rehabilitation (CR) improves exercise capacity and quality of life while reducing mortality in adults with acquired heart disease. Cardiac rehabilitation has not been extensively studied in adults with congenital heart disease (CHD). METHODS: We performed a prospective, randomized controlled trial (NCT01822769) of a 12-week clinical CR program compared with standard of care (SOC). Participants were ≥16 years old, had moderate or severe CHD, had O2 saturation ≥92%, and had peak O2 consumption ([Formula: see text]) < 80% predicted...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Laura J Olivieri, David Zurakowski, Karthik Ramakrishnan, Lillian Su, Fahad A Alfares, Matthew R Irwin, Jenna Heichel, Axel Krieger, Dilip S Nath
BACKGROUND: Postoperative care delivered in the pediatric cardiac intensive care unit (CICU) relies on providers' understanding of patients' congenital heart defects (CHDs) and procedure performed. Novel, bedside use of virtual, three-dimensional (3D) heart models creates access to patients' CHD to improve understanding. This study evaluates the impact of patient-specific virtual 3D heart models on CICU provider attitudes and care delivery. METHODS: Virtual 3D heart models were created from standard preoperative cardiac imaging of ten patients with CHD undergoing repair and displayed on a bedside tablet in the CICU...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Cathy Liu, Jade Lodge, Christopher Flatley, Alexander Gooi, Cameron Ward, Karen Eagleson, Sailesh Kumar
OBJECTIVE: To determine obstetric, intrapartum and perinatal outcomes for pregnancies with isolated fetal congenital heart defects (CHD). METHODS: This was a retrospective cohort study of women that delivered an infant with an isolated major CHD between January 2010 and April 2017 at a major Australian perinatal centre. The study cohort was compared with a cohort of women with infants without CHD. Cardiac abnormalities were broadly subdivided into the following five categories using the International Classification of Diseases Tenth Revision (ICD-10) as a guide - transposition of the great arteries (TGA), septal defects, right heart lesions (RHL), left heart lesions (LHL) and "other"...
March 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Albert C Hergenroeder, Douglas S Moodie, Daniel J Penny, Constance M Wiemann, Blanca Sanchez-Fournier, Lauren K Moore, Jane Head
OBJECTIVE: To describe changes in functional status between the last pediatric and first adult congenital heart disease (CHD) clinic visits in patients with moderate to severe CHD after implementing a healthcare transition (HCT) planning program. DESIGN: Quasi-experimental design. Patients were followed prospectively following the implementation of the intervention; Control patients transitioned from the Pediatric CHD Clinic into Adult CHD Clinic before the intervention...
March 15, 2018: Congenital Heart Disease
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
Saurabh Rajpal, Laith Alshawabkeh, Nureddin Almaddah, Caroline M Joyce, Keri Shafer, Michelle Gurvitz, Sushrut S Waikar, Finnian R Mc Causland, Michael J Landzberg, Alexander R Opotowsky
Importance: Albuminuria is associated with adverse outcomes in diverse groups of patients, but the importance of albuminuria in the emerging population of increasingly complex adults with congenital heart disease (ACHD) remains unknown. Objective: To assess the prevalence, risk factors, and prognostic implications of albuminuria in ACHD. Design, Setting, and Participants: This prospective study assessed a cohort of ambulatory patients aged 18 years and older who were examined at an ACHD referral center and enrolled in the Boston ACHD Biobank between May 17, 2012, to August 5, 2016...
March 14, 2018: JAMA Cardiology
Qinghai Peng, Shi Zeng, Qichang Zhou, Wen Deng, Tao Wang, Ya Tan, Yushan Liu
To observe Doppler changes in the three main cerebral arteries in fetuses with congenital heart defects (CHDs). The pulsatility index (PI) values of the anterior cerebral artery (ACA), middle cerebral artery (MCA), and posterior cerebral artery (PCA) were prospectively compared in 78 CHD fetuses and 78 normal control fetuses. Correlations between the cerebral artery PIs and the neurodevelopment scores (psychomotor development index [PDI] and mental development index [MDI]) were assessed. The MCA-PI was decreased significantly in fetuses with hypoplastic left heart syndrome (HLHS)...
March 14, 2018: Scientific Reports
Hannah L Mayr, Audrey C Tierney, Colleen J Thomas, Miguel Ruiz-Canela, Jessica Radcliffe, Catherine Itsiopoulos
The health benefits of a Mediterranean diet are thought to be mediated via its anti-inflammatory effects; however, the anti-inflammatory effect of this diet is unclear in patients who have already developed coronary heart disease (CHD). This systematic review and meta-analysis assessed the effect of Mediterranean-type diets on cytokines and adipokines in patients with CHD. An electronic search of the literature was conducted up to October 2016 using PubMed, Scopus, Web of Science, and Cochrane Library. Eleven of the 435 articles identified met eligibility criteria...
February 2018: Nutrition Research
Fenglong Xie, Lisandro D Colantonio, Jeffrey R Curtis, Meredith L Kilgore, Emily B Levitan, Keri L Monda, Monika M Safford, Ben Taylor, Mark Woodward, Paul Muntner
BACKGROUND: Cause of death is often not available in administrative claims data. OBJECTIVE: To develop claims-based algorithms to identify deaths due to fatal cardiovascular disease (CVD; ie, fatal coronary heart disease [CHD] or stroke), CHD, and stroke. METHODS: Reasons for Geographic and Racial Differences in Stroke (REGARDS) study data were linked with Medicare claims to develop the algorithms. Events adjudicated by REGARDS study investigators were used as the gold standard...
March 14, 2018: Pharmacoepidemiology and Drug Safety
Ping Hu, Fengchang Qiao, Yan Wang, Lulu Meng, Xiuqing Ji, Chunyu Luo, Tianhui Xu, Ran Zhou, Jingjing Zhang, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Dong Liang, Zhengfeng Xu
OBJECTIVES: This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) in prenatal diagnosis of congenital heart defects (CHDs) and for investigating the possible genetic etiology of prenatal CHD cases. METHODS: Forty-four fetuses with CHDs and normal molecular karyotypes underwent targeted NGS in this study. Fetal genomic DNA was directly extracted from amniotic fluid cells in each prenatal case. A customized targeted NGS panel containing 77 CHD-associated genes was designed to detect variants in the coding regions and the splicing sites of these genes...
March 13, 2018: Ultrasound in Obstetrics & Gynecology
Greggory R DeVore, Berthold Klas, Gary Satou, Mark Sklansky
OBJECTIVES: The purpose of this study was to measure the fractional area change (FAC) of the right and left ventricles in normal fetal hearts between 20 and 40 weeks of gestation using speckle-tracking software. METHODS: The 4-chamber view of the fetal heart was obtained in 200 control fetuses between 20 and 40 weeks of gestation. The FAC was computed from the ventricular areas [((end-diastolic area) - (end-systolic area)/(end-diastolic area)) x 100] for the right and left ventricles and regressed against 7 independent biometric and age variables...
March 14, 2018: Ultrasound in Obstetrics & Gynecology
Luis R Castellanos, Omar Viramontes, Nainjot K Bains, Ignacio A Zepeda
PURPOSE: Despite the well-described benefits of cardiac rehabilitation (CR) on long-term health outcomes, CR is a resource that is underutilized by a significant proportion of patients that suffer from cardiovascular diseases. The main purpose of this study was to examine disparities in CR referral and participation rates among individuals from rural communities and racial and ethnic minority groups with coronary heart disease (CHD) when compared to the general population. METHODS: A systematic search of standard databases including MedlLine, PubMed, and Cochrane databases was conducted using keywords that included cardiac rehabilitation, women, race and ethnicity, disparities, and rural populations...
March 13, 2018: Journal of Racial and Ethnic Health Disparities
Anum Saeed, Vijay Nambi, Wensheng Sun, Salim S Virani, George Taffet, Anita Deswal, Elizabeth Selvin, Kunihiro Matsushita, Lynne E Wagenknecht, Ron Hoogeveen, Josef Coresh, James A de Lemos, Christie M Ballantyne
BACKGROUND: Current prevention guidelines recommend using the Pooled Cohort Equation (PCE) for 10-year atherosclerotic cardiovascular disease (CVD) risk assessment. However, the PCE has serious limitations in older adults: it excludes heart failure (HF) hospitalization, estimates 10-year risk which may not be the most relevant time frame, and is not indicated for individuals aged >79 years. OBJECTIVES: To determine whether adding biomarkers to PCE variables improves global CVD (coronary heart disease [CHD], stroke, and HF) risk prediction in older adults over a shorter time period...
March 3, 2018: Journal of the American College of Cardiology
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