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ventricular septal defect, and failure to thrive

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https://www.readbyqxmd.com/read/27895952/severe-hiatal-hernia-as-a-cause-of-failure-to-thrive-discovered-by-transthoracic-echocardiogram
#1
Clint J Moore, Devan A Conley, Cristóbal S Berry-Cabán, Ryan P Flanagan
A newborn infant with failure to thrive presented for murmur evaluation on day of life three due to a harsh 3/6 murmur. During the evaluation, a retrocardiac fluid filled mass was seen by transthoracic echocardiogram. The infant was also found to have a ventricular septal defect and partial anomalous pulmonary venous return. Eventually, a large hiatal hernia was diagnosed on subsequent imaging. The infant ultimately underwent surgical repair of the hiatal hernia at a tertiary care facility. Hiatal hernias have been noted as incidental extracardiac findings in adults, but no previous literature has documented hiatal hernias as incidental findings in the pediatric population...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27625018/interventional-closure-of-secundum-type-atrial-septal-defects-in-infants-less-than-10-kilograms-indications-and-procedural-outcome
#2
Yves Wyss, Daniel Quandt, Roland Weber, Brian Stiasny, Benedikt Weber, Walter Knirsch, Oliver Kretschmar
AIMS: This study set out to assess indications, feasibility, complications, and clinical outcome of percutaneous transcatheter device closure of atrial septal defects (ASDs) in infants with a bodyweight below 10 kg. METHODS AND RESULTS: Retrospective single center chart and echocardiography review study from 8/2005-12/2013. Twenty-eight children with ASD (13 female) with a median age of 1.15 years (0.2-2.8) and a median weight of 7.2 kg (4.5-9.9) were analyzed...
December 2016: Journal of Interventional Cardiology
https://www.readbyqxmd.com/read/26922111/echocardiography-for-the-assessment-of-congenital-heart-defects-in-calves
#3
REVIEW
Katharyn Jean Mitchell, Colin Claudio Schwarzwald
Congenital heart disease should be considered when evaluating calves with chronic respiratory signs, failure to thrive, poor growth, or if a murmur is heard on physical examination. Echocardiography is currently the gold standard for diagnosing congenital heart defects. A wide variety of defects, either alone or in combination with a ventricular septal defect, are possible. A standardized approach using sequential segmental analysis is required to fully appreciate the nature and severity of more complex malformations...
March 2016: Veterinary Clinics of North America. Food Animal Practice
https://www.readbyqxmd.com/read/26803197/cardiac-gated-computed-tomography-angiography-in-three-alpacas-with-complex-congenital-heart-disease
#4
S M Stieger-Vanegas, K F Scollan, L Meadows, D Sisson, J Schlipf, T Riebold, C V Löhr
BACKGROUND: The prevalence of congenital heart disease is higher in camelids than in other domestic species and complex defects, often involving the great vessels, are more frequently encountered in llamas and alpacas than in other species. Some of these complex defects can be difficult to accurately characterize via echocardiography, the most commonly used diagnostic imaging technique to evaluate the heart in veterinary patients. Contrast-enhanced, electrocardiogram (ECG)-gated computed tomography (CT) has proven utility for the evaluation of human patients with certain congenital heart defects, including those with conotruncal septation defects and other abnormalities involving the formation of the great vessels...
March 2016: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/26646145/catch-up-growth-in-term-and-preterm-infants-after-surgical-closure-of-ventricular-septal-defect-in-the-first-year-of-life
#5
Luísa Correia Martins, Rita Lourenço, Susana Cordeiro, Nuno Carvalho, Inês Mendes, Marisa Loureiro, Miguel Patrício, Rui Anjos
UNLABELLED: Growth impairment in infants with unrestrictive ventricular septal defects (VSD) is common, and normalisation of growth has been reported after surgical correction. Literature is inconsistent about growth velocity after surgery in term and preterm infants. We aimed to establish the pattern of catch-up growth in term and preterm infants submitted to VSD surgical correction before 1 year of age. Fifty-two infants (41 term, 11 preterm) were studied. Anthropometric data at birth, surgery and 3, 6, 12 and 24 months after surgery were collected retrospectively...
April 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/25786293/aortopulmonary-window-a-rare-congenital-heart-disease
#6
T J Costa, N Damry, C Jacquemart, C Christophe
We report the case of a 3,5 month-old infant presented at cardiology consultation of our institution for investigation of a heart murmur associated with failure to thrive and respiratory distress. Echocardiogram showed dilatation of left heart cavities, patent foramen ovale, small muscular ventricular septal defect and pulmonary hypertension. Angio-CT was performed on a 64-slice CT to better characterize the congenital heart disease. Aortopulmonary window was diagnosed and surgically corrected. Patient evolution was good with discharge 10 days after surgery...
November 2014: JBR-BTR: Organe de la Société Royale Belge de Radiologie (SRBR)
https://www.readbyqxmd.com/read/25620341/-hypertrophic-cardiomyopathy-and-costello-syndrome-review-of-recent-related-literature-with-case-report
#7
Osman Güvenç, Fatma Sevinç Şengül, Murat Saygı, Yakup Ergül, Alper Güzeltaş
Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis. Cardiac involvement is seen in almost two thirds of patients, and is a determinant for the prognosis of Costello syndrome. The most common cardiac anomalies are pulmonary stenosis, hypertrophic cardiomyopathy, atrial septal defect, ventricular septal defect and arrhytmia...
December 2014: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/25523232/ventricular-septal-defect
#8
REVIEW
Diane E Spicer, Hao H Hsu, Jennifer Co-Vu, Robert H Anderson, F Jay Fricker
BACKGROUND: Ventricular septal defects are the commonest congenital cardiac malformations. They can exist in isolation, but are also found as integral components of other cardiac anomalies, such as tetralogy of Fallot, double outlet right ventricle, or common arterial trunk. As yet, there is no agreement on how best to classify such defects, nor even on the curved surface that is taken to represent the defect. METHODS: Based on our previous pathological and clinical experiences, we have reviewed the history of classification of holes between the ventricles...
December 19, 2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/25335496/compound-heterozygous-or-homozygous-truncating-mybpc3-mutations-cause-lethal-cardiomyopathy-with-features-of-noncompaction-and-septal-defects
#9
Marja W Wessels, Johanna C Herkert, Ingrid M Frohn-Mulder, Michiel Dalinghaus, Arthur van den Wijngaard, Ronald R de Krijger, Michelle Michels, Irenaeus Fm de Coo, Yvonne M Hoedemaekers, Dennis Dooijes
Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four unrelated neonates with lethal cardiomyopathy, and performed molecular studies to identify the genetic defect. We also present a literature overview of reported patients with compound heterozygous or homozygous pathogenic MYBPC3 mutations and describe their clinical characteristics...
July 2015: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/25035421/new-braf-knockin-mice-provide-a-pathogenetic-mechanism-of-developmental-defects-and-a-therapeutic-approach-in-cardio-facio-cutaneous-syndrome
#10
Shin-Ichi Inoue, Mitsuji Moriya, Yusuke Watanabe, Sachiko Miyagawa-Tomita, Tetsuya Niihori, Daiju Oba, Masao Ono, Shigeo Kure, Toshihiko Ogura, Yoichi Matsubara, Yoko Aoki
Cardio-facio-cutaneous (CFC) syndrome is one of the 'RASopathies', a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS-MAPK pathway. Germline mutations in BRAF cause CFC syndrome, which is characterized by heart defects, distinctive facial features and ectodermal abnormalities. To define the pathogenesis and to develop a potential therapeutic approach in CFC syndrome, we here generated new knockin mice (here Braf(Q241R/+)) expressing the Braf Q241R mutation, which corresponds to the most frequent mutation in CFC syndrome, Q257R...
December 15, 2014: Human Molecular Genetics
https://www.readbyqxmd.com/read/25003005/a-human-de-novo-mutation-in-myh10-phenocopies-the-loss-of-function-mutation-in-mice
#11
Lea Tuzovic, Lan Yu, Wenqi Zeng, Xiang Li, Hong Lu, Hsiao-Mei Lu, Kelly Df Gonzalez, Wendy K Chung
We used whole exome sequence analysis to investigate a possible genetic etiology for a patient with the phenotype of intrauterine growth restriction, microcephaly, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus, and congenital diaphragmatic hernia (CDH). Whole exome sequencing identified a novel de novo c.2722G > T (p.E908X) mutation in the Myosin Heavy Chain 10 gene (MYH10) which encodes for non-muscle heavy chain II B (NMHC IIB)...
2013: Rare Diseases
https://www.readbyqxmd.com/read/24719542/closure-of-a-large-perimembranous-ventricular-septal-defect-in-a-4-8%C3%A2-kg-baby-with-down-syndrome-using-a-duct-occluder
#12
Mohammed H Alghamdi, M O Galal, Fahad Al-Habshan, Mansour Al-Mutairi
A 9.5-month-old boy with Down syndrome, weighing 4.8 kg, presented with history of failure to thrive. Clinically, he had symptoms and signs of congestive heart failure. His echocardiogram showed a large perimembranous ventricular septal defect (pmVSD) with some inlet extension covered by a large aneurysmal tissue with multiple right ventricular (RV) exits. Additionally, he had hypothyroidism and Hirschsprung disease. Instead of closing the VSD surgically, the VSD was successfully closed utilizing an 8 × 6 mm duct occluder...
April 2014: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/24458596/coarctation-of-the-aorta-in-noonan-like-syndrome-with-loose-anagen-hair
#13
Michaela Zmolikova, Alena Puchmajerova, Petr Hecht, Jan Lebl, Marie Trkova, Anna Krepelova
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical abnormal hair. We report on a patient with molecularly confirmed NS/LAH with coarctation of the aorta. The girl was precipitously born at 37 weeks of gestation at home and required a 3-min resuscitation. Increased nuchal translucency and aortic coarctation with a small ventricular septal defect were described prenatally, hypertrophic cardiomyopathy was detected postnatally...
May 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24252233/synopsis-of-congenital-cardiac-disease-among-children-attending-university-of-nigeria-teaching-hospital-ituku-ozalla-enugu
#14
Josephat M Chinawa, John C Eze, Ikechukwu Obi, Ijeoma Arodiwe, Fortune Ujunwa, Adiele K Daberechi, Herbert A Obu
BACKGROUND: The objective of this study was to determine the pattern of congenital cardiac disease among children attending UNTH, Enugu, Nigeria. The nature of these abnormalities and the outcome were also considered. The exact etiology is unknown but genetic and environmental factors tend to be implicated. The difference in the pattern obtained worldwide and few studies in Nigeria could be due to genetic, environmental, socioeconomic, or ethnic origin. METHODS: A retrospective analysis of discharged cases in which a review of the cases of all children attending children outpatient clinics including cardiology clinic of the University of Nigeria Teaching Hospital (UNTH), Enugu over a five year period (January 2007-June 2012) was undertaken...
2013: BMC Research Notes
https://www.readbyqxmd.com/read/24097742/incidence-of-congenital-heart-disease-in-tertiary-care-hospital
#15
G S Shah, M K Singh, T R Pandey, B K Kalakheti, G P Bhandari
Aims and Objectives: The present study was under taken to determine the spectrum, clinical profile and outcome of patients with congenital heart disease (CHD) admitted to a tertiary care hospital. Materials and methods: This is a retrospective, observational hospital based study conducted during January 2006 to December 2006. Out of 14461 admissions, 84 were cases of CHD. Only patients with echocardiographic proof of CHD were included in the study. Detailed clinical and laboratory findings and outcome of all cases were noted in pre-structured formats...
January 2008: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/23426833/hypercortisolism-and-hypothyroidism-in-an-infant-with-smith-lemli-opitz-syndrome
#16
Suresh Kumar, Renu Suthar, Inusha Panigrahi
BACKGROUND: The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome caused by a defect in cholesterol synthesis. Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation. Diagnostic biochemical features include low plasma cholesterol levels and elevated levels of cholesterol precursors, including 7-dehydrocholesterol (7DHC). AIMS: The aim of this study is to report a case of SLOS with hypercortisolism and hypothyroidism...
2012: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/23388225/transcatheter-closure-of-secundum-asd-using-occlutech-figulla-n-device-in-symptomatic-children-younger-than-2-years-of-age
#17
COMPARATIVE STUDY
Rasha I Ammar, Ranya A Hegazy
INTRODUCTION: Atrial septal defect (ASD) transcatheter occlusion techniques have become alternatives to surgical procedures. We evaluated the efficiency and safety of the Occlutech Figulla-N device in percutaneous closure of secundum ASDs in symptomatic children younger than 2 years of age. METHODS: The study included 17 patients (9 girls, 8 boys; mean age, 10.3 ± 2.1 months). Mean weight was 7.4 ± 1.3 kg, with secundum ASDs measuring more than 8 mm with a hemodynamically significant shunt, resulting in failure to thrive, right ventricular dilatation, and pulmonary hypertension...
February 2013: Journal of Invasive Cardiology
https://www.readbyqxmd.com/read/22572516/a-case-of-dyspnoea-evaluated-by-cardiac-computed-tomography-angiography
#18
Johann Christopher, Shweta Bakru, Ravi Bathina, Nageshwara Rao Koneti
No abstract text is available yet for this article.
March 2012: Indian Heart Journal
https://www.readbyqxmd.com/read/22455281/presentation-of-congestive-cardiac-failure-in-children-with-ventricular-septal-defect
#19
Maqbool Hussain, Sajjad Hussain, Jai Krishin, Saleem Abbasi
BACKGROUND: While there is much data on cardiac problems of adults, there is a limited statistical data available to evaluate the magnitude of the cardiac problems in children in Pakistan. Many of these children present with recurrent chest infections and congestive cardiac failure (CCF), and are managed by general practitioners. A careful search for underlying cardiac problems and awareness about the presentation of CCF and its magnitude will definitely decrease the morbidity and mortality of these children...
October 2010: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/22065268/cobalamin-f-disease-detected-by-newborn-screening-and-follow-up-on-a-14-year-old-patient
#20
Olajumoke Oladipo, David S Rosenblatt, David Watkins, Isabelle Racine Miousse, Laurie Sprietsma, Dennis J Dietzen, Marwan Shinawi
The cobalamin F (cblF) defect is caused by disturbed lysosomal release of cobalamin (vitamin B(12)) into the cytoplasm caused by mutations in the LMBRD1 gene. We present the clinical and biochemical characterization of a patient with newly diagnosed cblF disease and a follow-up on a 14-year-old patient. The new patient presented with elevation of propionyl carnitine found on a newborn screen. The patient was small for gestational age, exhibited dysmorphic features and mild developmental delay, and had trigonocephaly and ventricular septal defect...
December 2011: Pediatrics
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