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"Heart defect"

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
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
Juanjuan Zhao, Mathilda T M Mommersteeg
The Slit ligands and their Robo receptors are well-known for their roles during axon guidance in the central nervous system, but are still relatively unknown in the cardiac field. However, data from different animal models suggest a broad involvement of the pathway in many aspects of heart development, from cardiac cell migration and alignment, lumen formation, chamber formation, to the formation of the ventricular septum, semilunar and atrioventricular valves, caval veins and pericardium. Absence of one or more of the genes in the pathway results in defects ranging from bicuspid aortic valves to ventricular septal defects and abnormal venous connections to the heart...
March 10, 2018: Cardiovascular Research
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
Ze-Wei Tao, Mohamed Mohamed, Jeffrey G Jacot, Ravi K Birla
Bioengineering cardiac tissue constructs with adult cardiomyocytes may help treat adult heart defects and injury. In this study, we fabricated cardiac tissue constructs by seeding adult rat cardiomyocytes on a fibrin gel matrix and analyzed the electromechanical properties of the formed cardiac tissue constructs. Adult rat cardiomyocytes were isolated with a collagenase type II buffer using an optimized Langendorff perfusion system. Cardiac tissue constructs were fabricated using either indirect plating with cardiomyocytes that were cultured for 1 week and dedifferentiated or with freshly isolated cardiomyocytes...
March 13, 2018: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
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
H Y Ruan, Y G Zhang, R Liu
Objective: To compare the acute hemodynamic effects of intravenous fasudil with different dosage on patients with congenital heart defects (CHD) and severe pulmonary arterial hypertension (PAH). Methods: Sixty patients (37±17 years old) with CHD and PAH were consecutively enrolled. All patients underwent heart catheterization. The patients were randomly divided into two groups: the regular dosage group and the large dosage group. At initiation and 30 min after intravenous fasudil(30 mg and 60 mg respectively), the following hemodynamic parameters were measured and calculated: right atrial pressure(RAP), pulmonary arterypressure(PAP) , systemic artery pressure (SAP), pulmonary capillary wedge pressure(PCWP) , pulmonary vascular resistance(PVR) and systemic vascular resistance( SVR), cardiac index (CI) and artery oxygen saturation (SaO(2))...
March 6, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Cheng Sun, Maria I Kontaridis
The heart is one of the first organs to form and function during embryonic development. It is comprised of multiple cell lineages, each integral for proper cardiac development, and include cardiomyocytes, endothelial cells, epicardial cells and neural crest cells. The molecular mechanisms regulating cardiac development and morphogenesis are dependent on signaling crosstalk between multiple lineages through paracrine interactions, cell-ECM interactions, and cell-cell interactions, which together, help facilitate survival, growth, proliferation, differentiation and migration of cardiac tissue...
February 2018: Current Opinion in Physiology
Giulio Calcagni, Rachele Adorisio, Simone Martinelli, Giorgia Grutter, Anwar Baban, Paolo Versacci, Maria Cristina Digilio, Fabrizio Drago, Bruce D Gelb, Marco Tartaglia, Bruno Marino
RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure...
April 2018: Heart Failure Clinics
Ineke Nederend, Eco J C de Geus, Lucia J M Kroft, Jos J M Westenberg, Nico A Blom, Arend D J Ten Harkel
BACKGROUND: Coarctation of the aorta (CoA) is one of the most common congenital heart defects. Due to improved surgical techniques, most patients live into adulthood. However, late complications including hypertension, recoarctation and arrhythmias are common. The autonomic nervous system (ANS) might play a role in the pathology. The aim of this study was to evaluate cardiac ANS activity and cardiac function in children after CoA repair and investigate the relationship between the two...
March 5, 2018: Annals of Thoracic Surgery
Antonio F Corno, Saravanan Durairaj, Robert H Anderson
Aorto-ventricular tunnel is an extremely rare congenital heart defect, consisting of failure of attachment of an aortic leaflet along the semilunar hinge. In all published reports the leaflet involved was either the right coronary leaflet, most frequently, or the left coronary leaflet, in most of the cases opening toward the left ventricle, with only one-eighth of the reported cases communicating with the right ventricle. Treatment of the aorto-ventricular tunnel has been anecdotally reported by interventional closure with a device and more frequently with surgical approach, either as an isolated malformation or as associated lesions...
2018: Frontiers in Pediatrics
Paula Colvara de Souza, Vanessa Souza Gigoski, Camila Lúcia Etges, Lisiane da Rosa Barbosa
PURPOSE: Describe the findings of postoperative clinical evaluation of swallowing in infants with congenital heart disease (CHD) in a reference hospital in southern Brazil. METHODS: This is a cross-sectional study conducted postoperatively with infants with medical diagnosis of CHD aged 0-6 months in a Pediatric Intensive Care Unit. Exclusion criteria comprised infants with neurological and respiratory impairments, craniofacial malformation, structural alteration in the upper airways, and suspicion or diagnosis of genetic syndromes...
March 1, 2018: CoDAS
T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, E C Bedoukian, E J Bhoj, D Bonneau, E Boudry-Labis, S Bouquillon, O Boute-Benejean, R Caumes, N Chatron, C Colson, C Coubes, C Coutton, F Devillard, A Dieux-Coeslier, M Doco-Fenzy, L J Ewans, L Faivre, E Fassi, M Field, C Fournier, C Francannet, D Genevieve, I Giurgea, A Goldenberg, A K Green, A M Guerrot, D Heron, B Isidor, B A Keena, B L Krock, P Kuentz, E Lapi, N Le Meur, G Lesca, D Li, I Marey, C Mignot, C Nava, A Nesbitt, G Nicolas, C Roche-Lestienne, T Roscioli, V Satre, A Santani, M Stefanova, S Steinwall Larsen, P Saugier-Veber, S Picker-Minh, C Thuillier, A Verloes, G Vieville, M Wenzel, M Willems, S Whalen, Y A Zarate, A Ziegler, S Manouvrier-Hanu, V M Kalscheuer, B Gerard, Jamal Ghoumid
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies...
March 6, 2018: Neurogenetics
Jarle Jortveit, Jakob Klcovansky, Leif Eskedal, Sigurd Birkeland, Gaute Døhlen, Henrik Holmstrøm
OBJECTIVES: Congenital heart defects (CHD) are the most common birth defects worldwide and are an important cause of morbidity and early death. A significant number of deaths occur among patients with infections. CHDs predispose to the development of infective endocarditis (IE) and represent a risk factor for increased mortality due to IE. The aim of this study was to investigate the occurrence and outcomes of IE in children and adolescents with CHDs. METHODS: Data on all children with CHD and IE born in Norway between 1994 and 2016 were retrieved from the Oslo University Hospital's Clinical Registry for Congenital Heart Defects...
March 6, 2018: Archives of Disease in Childhood
J Pavlíček, E Klásková, E Doležálková, D Matura, R Špaček, T Gruszka, S Polanská, M Procházka
OBJECTIVE: To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes. SETTING: Department of Pediatrics, University Hospital Ostrava. DESIGN: Retrospective study. METHODS: Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016...
2018: Ceská Gynekologie
Alka Anilkumar, D M Vasudevan, Mahesh Kappanayil, K R Sundaram, R Krishna Kumar, Sheela Nampoothiri
BACKGROUND AND OBJECTIVES: The 22q11 deletion syndrome is associated with a wide spectrum of phenotypic features, hence clinical diagnosis is difficult. Individuals with this syndrome are found to have a risk of developing transfusion associated graft-versus-host reaction, if they are given nonirradiated blood. Our aim was to elucidate whether chromosome 22q11 deletion in children with syndromic conotruncal heart defects is associated with platelet abnormality. MATERIALS AND METHODS: The genetic analysis was performed by standard cytogenetic and Fluorescence in situ hybridization technique...
March 5, 2018: Congenital Heart Disease
J Lévy, D Haye, N Marziliano, G Casu, F Guimiot, C Dupont, N Teissier, B Benzacken, P Gressens, E Pipiras, A Verloes, A-C Tabet
Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in EFNB2 and a family in which segregates a 610-kb deletion at chromosome 13q33 encompassing only ARGLU1 and EFNB2 genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay. The deletion was identified in 2 sibs with congenital heart defect and mild developmental delay...
March 6, 2018: Clinical Genetics
Norain Talib, Khairil Amir Sayuti, Mohd Shafie Abdullah, Mohd Rizal Mohd Zain
Total anomalous pulmonary venous return (TAPVR) is a rare congenital heart defect, and patients are usually symptomatic at a very young age. Survival to adulthood without surgical correction is extremely rare. We report a 33-year-old woman with a heart murmur and a history of a successful pregnancy. Echocardiogram revealed a large atrial septal defect with suspicious pulmonary vein anomaly. Chest radiograph demonstrated classical 'snowman' configuration. Cardiac catheterisation was consistent with anomalous pulmonary venous drainage...
March 5, 2018: BMJ Case Reports
Tarun Raina Ramman, Nilanjan Dutta, Kuntal Roy Chowdhuri, Sunny Agrawal, Sumir Girotra, Sushil Azad, Sitaraman Radhakrishnan, Parvathi Unninayar Iyer, Krishna Subramony Iyer
Persistent left superior vena cava is a common congenital anomaly of the thoracic venous system. Left superior vena cava draining into left atrium is a malformation of sinus venosus and caval system. The anomaly may be a cause of unexplained hypoxia even in adults. It may give rise to various diagnostic and technical challenges during cardiac catheterization and open-heart surgery. It is often detected serendipitously during diagnostic workup. Isolated left superior vena cava opening into left atrium is very commonly associated with other congenital heart defects...
January 1, 2018: World Journal for Pediatric & Congenital Heart Surgery
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