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cardiac malformation

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
Thomas Beez, Jennifer Brown
BACKGROUND: Atlanto-occipital dislocation (AOD) is a rare but severe sequela of high energy trauma. Children are at increased risk, due to their immature spine and biomechanical characteristics. LITERATURE REVIEW: The prevailing mechanism of injury is motor vehicle collision as passenger. AOD commonly presents with cardiorespiratory arrest, spinal cord injury or cranial nerve deficits. Concomitant injuries, such as traumatic brain injury, are frequently encountered...
October 18, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Kristin McLeod, Samuel Wall, Ida Skrinde Leren, Jørg Saberniak, Kristina Hermann Haugaa
BACKGROUND: Altered right ventricular structure is an important feature of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), but is challenging to quantify objectively. The aim of this study was to go beyond ventricular volumes and diameters and to explore if the shape of the right and left ventricles could be assessed and related to clinical measures. We used quantifiable computational methods to automatically identify and analyse malformations in ARVC patients from Cardiovascular Magnetic Resonance (CMR) images...
October 14, 2016: Journal of Cardiovascular Magnetic Resonance
Liang-Ze Zhang, Wei-Guo Ma, Shu-Geng Gao, Jie He
Unilateral absence of a pulmonary artery (UAPA) is a rare congenital cardiac malformation that is often associated with other cardiovascular deformities. Surgical repair of this rare condition is usually performed only on the abnormal lung. The occurrence of lung cancer in association with UAPA is even rarer and clinical experience is very limited. This report aims to describe a case of unilateral absence of right pulmonary artery that was complicated by primary carcinoma of the contralateral lung. A left lower lobectomy was performed despite the absence of the right pulmonary artery and repeated decreases in the arterial oxygen saturation (SaO2) were encountered intraoperatively...
September 2016: Journal of Thoracic Disease
Michael L Rigby
Major congenital or acquired heart disease in neonates presents with cyanosis, hypoxia, acute circulatory failure or cardiogenic shock. Antenatal diagnosis is made in up to 50% but heart disease is unanticipated in the remainder. The presence of significant heart disease in premature infants is also frequently not suspected at first; in general, whatever the underling cardiac anomaly, the clinical condition is worse, deteriorates more quickly and carries a poorer prognosis in premature and low birth weight infants...
October 13, 2016: Early Human Development
Katarzyna Iwanicka-Pronicka, Magdalena Socha, Maria Jędrzejowska, Małgorzata Krajewska-Walasek, Aleksander Jamsheer
Holt-Oram syndrome (HOS) features radial ray hypoplasia, heart defect and cardiac conduction impairment. Ulnar-mammary syndrome (UMS) characterizes congenital defects of the ulnar side of the upper limbs, underdevelopment of apocrine glands including hypoplasia and the dysfunction of mammary glands, hypogonadism and obesity. Inheritance of both conditions is autosomal dominant, mutations or deletions are found in the TBX5 and TBX3 gene, respectively. The Polish patient presented short stature, obesity, congenital malformation of the radial and ulnar side of the upper limbs, heart block, hypogonadism and dysmorphic features...
2016: SpringerPlus
Manoj Kumar Sahu, Anuradha Singal, Ramesh Menon, Sarvesh Pal Singh, Alka Mohan, Mala Manral, Divya Singh, V Devagouru, Sachin Talwar, Shiv Kumar Choudhary
BACKGROUND AND OBJECTIVES: Adequate nutritional supplementation in infants with cardiac malformations after surgical repair is a challenge. Critically ill infants in the early postoperative period are in a catabolic stress. The mismatch between estimated energy requirement (EER) and the intake in the postoperative period is multifactorial, predisposing them to complications such as immune deficiency, more infection, and growth failure. This study aimed to assess the feasibility and efficacy of enriched breast milk feed on postoperative recovery and growth of infants after open heart surgery...
October 2016: Annals of Cardiac Anaesthesia
Carla Frescura, Gaetano Thiene
Transposition of the great arteries (TGA) is a cardiac condition in which the arterial trunks arise from the inappropriate ventricle: the aorta from the right ventricle and the pulmonary trunk from the left ventricle [discordant ventriculo-arterial (VA) connection]. In complete TGA, the discordant VA connection is associated with situs solitus or inversus and concordant atrioventricular (AV) connection. The hemodynamic consequence of these combined connections is that systemic and pulmonary circulations function in "parallel" rather than in "series"...
2016: Frontiers in Pediatrics
Carmen Rueda-Martínez, M Carmen Fernández, María Teresa Soto-Navarrete, Manuel Jiménez-Navarro, Ana Carmen Durán, Borja Fernández
Bicuspid aortic valve (BAV) is the most frequent congenital cardiac malformation in humans, and appears frequently associated with dilatation of the ascending aorta. This association is likely the result of a common aetiology. Currently, a Syrian hamster strain with a relatively high (∼40%) incidence of BAV constitutes the only spontaneous animal model of BAV disease. The characterization of molecular alterations in the aorta of hamsters with BAV may serve to identify pathophysiological mechanisms and molecular markers of disease in humans...
2016: PloS One
Xiaolin Lin, Wentao Zhao, Junshuang Jia, Taoyan Lin, Gaofang Xiao, Shengchun Wang, Xia Lin, Yu Liu, Li Chen, Yujuan Qin, Jing Li, Tingting Zhang, Weichao Hao, Bangzhu Chen, Raoying Xie, Yushuang Cheng, Kang Xu, Kaitai Yao, Wenhua Huang, Dong Xiao, Yan Sun
Targeted disruption of Cripto-1 in mice caused embryonic lethality at E7.5, whereas we unexpectedly found that ectopic Cripto-1 expression in mouse embryos also led to embryonic lethality, which prompted us to characterize the causes and mechanisms underlying embryonic death due to ectopic Cripto-1 expression. RCLG/EIIa-Cre embryos displayed complex phenotypes between embryonic day 14.5 (E14.5) and E17.5, including fatal hemorrhages (E14.5-E15.5), embryo resorption (E14.5-E17.5), pale body surface (E14.5-E16...
September 30, 2016: Scientific Reports
Jara E Jonker, Eryn T Liem, Nynke J Elzenga, Bouwe Molenbuur, Monika Trzpis, Paul M A Broens
OBJECTIVE: To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. STUDY DESIGN: We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major...
September 26, 2016: Journal of Pediatrics
Eva Hlavackova, Martin Liska, Hana Jicinska, Jiri Navratil, Jiri Litzman
The Fontan operation or total cavopulmonal connection (TCPC) is a palliative surgical correction of rare and complex inborn cardiac malformations that are characterized by univentricular circulation. Protein-losing enteropathy (PLE) develops in 4-13% of patients after the Fontan procedure. Fontan-related PLE leads to secondary combined immunodeficiency marked by hypogammaglobulinemia and predominantly CD4+ lymphocytopenia. Here, we present 3 case reports of patients with secondary immunodeficiency after the Fontan operation...
September 30, 2016: International Archives of Allergy and Immunology
Daphné Michelet, Christopher Brasher, Houssam Ben Kaddour, Thierno Diallo, Rachida Abdat, Serge Malbezin, Arnaud Bonnard, Souhayl Dahmani
BACKGROUND: Data on major non-surgical postoperative complications following neonatal and infant surgery is lacking. The goal of the present study was to describe common major complications and their predictive factors. MATERIAL AND METHODS: The study consisted of a retrospective review of medical charts of patients less than 6 months of age operated in our institution over one calendar year, excluding herniorraphy surgery. The data collected included demographics, preoperative ICU bed status, ASA status, a history of cardiac malformation, hyaline membrane disease (HMD) or necrotizing enterocolitis (NEC), preoperative haemoglobin, emergent surgery status, surgery type and duration, duration of anaesthesia and the need for intraoperative fluid boluses...
September 23, 2016: Anaesthesia, Critical Care & Pain Medicine
Masaya Yamoto, Noboru Inamura, Keita Terui, Kouji Nagata, Yutaka Kanamori, Masahiro Hayakawa, Yuko Tazuke, Akiko Yokoi, Hajime Takayasu, Hiroomi Okuyama, Koji Fukumoto, Naoto Urushihara, Tomoaki Taguchi, Noriaki Usui
BACKGROUND/PURPOSE: The purpose of this study was to investigate echocardiographic parameters in relation to the outcomes of isolated left-sided congenital diaphragmatic hernia (CDH). METHODS: This multicenter, retrospective, observational study was conducted among patients with CDH born between 2006 and 2010. Patients in this study did not have severe cardiac malformations or chromosomal aberrations. Patients with incomplete echocardiographic examinations were excluded...
September 15, 2016: Journal of Pediatric Surgery
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, Philip Sweet, Alexander N Yatsenko, Nijole Pollock, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko, Selma Feldman Witchel
Hand-Foot-Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss-of-function mutations in the HOXA13 gene. HOXA13 plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589 kb deletion in the 7p15.2 region identified in a male toddler and his mother. The proband had severe penoscrotal hypospadias, mild skeletal anomalies of the hands and feet, cardiac, renal, and gastrointestinal anomalies...
September 20, 2016: American Journal of Medical Genetics. Part A
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
September 19, 2016: Cardiology in the Young
Anaïs Lemaire, Sylvie DiFilippo, Jean-Jacques Parienti, Olivier Metton, Julia Mitchell, Roland Hénaine, Jean Ninet
Background Total anomalous pulmonary venous connection is a rare cardiac malformation associated with significant morbidity and mortality rates. We report a large surgical series study to evaluate mid-term and long-term results of conventional surgical techniques. Methods and Results We performed a retrospective analytic study of all patients operated on for simple total anomalous pulmonary venous connection in the University Hospital of Lyon, France, between January 1973 and June 2014. A total of 180 patients were included (43% supracardiac, 27% intracardiac, 19% infracardiac, and 11% mixed types)...
September 16, 2016: Thoracic and Cardiovascular Surgeon
Carmen Rueda-Martínez, Oscar Lamas, María José Mataró, Juan Robledo-Carmona, Gemma Sánchez-Espín, Inmaculada Moreno-Santos, Fernando Carrasco-Chinchilla, Pastora Gallego, Miguel Such-Martínez, Eduardo de Teresa, Manuel Jiménez-Navarro, Borja Fernández
OBJECTIVES: Bicuspid aortic valve (BAV) is the most prevalent congenital cardiac malformation, frequently associated with aortic dilatation (AD). The molecular mechanisms involved in AD and its aetiological link with BAV formation are poorly understood. Altered fibrillin-1 (FBN1) and metalloprotease-2, -9 (MMP2,9) protein activities have been suggested to be involved in BAV aortopathy. In addition, FBN2 participates in embryonic valve formation, but its possible involvement in BAV-associated AD has never been explored...
September 15, 2016: European Journal of Cardio-thoracic Surgery
T M Yates, C L S Turner, H V Firth, J Berg, D T Pilz
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations...
September 13, 2016: Clinical Genetics
Paldeep S Atwal, C Macmurdo
Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features...
December 2015: Journal of Pediatric Genetics
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