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https://www.readbyqxmd.com/read/27817779/-identification-of-a-novel-jag1-mutation-in-a-family-affected-by-alagille-syndrome
#1
Ying Cheng, Shu-Tao Zhao, Li Guo, Mei Deng, Qing Zhou, Yuan-Zong Song
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27462370/a-de-novo-duplication-of-chromosome-9q34-13-qter-in-a-fetus-with-tetralogy-of-fallot-syndrome
#2
Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Jiancheng Hu, Hua Wang
BACKGROUND: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with 9qter duplications. CASE PRESENTATION: A 23-year-old woman was referred for genetic counseling and prenatal diagnosis at 25(3/7) weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome (TOF) by prenatal ultrasound...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26576184/alagille-syndrome-and-a-jag1-mutation-41-cases-of-experience-at-a-single-center
#3
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Jung Min Go, Jin Su Moon, Eun Jung Bae, Chung Il Noh
PURPOSE: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. METHODS: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013...
October 2015: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/26296051/rod-cone-dystrophy-associated-with-williams-syndrome
#4
Laura Kuehlewein, SriniVas R Sadda
PURPOSE: To describe a case of rod-cone dystrophy associated with Williams syndrome. METHODS: This is an observational case report. The medical history was assessed. Examination included ophthalmoscopy, slit-lamp biomicroscopy, fundus autofluorescence imaging, optical coherence tomography, full-field and multifocal electroretinography, and fluorescence in situ hybridization for genetic testing. RESULTS: A 14-year-old Asian Indian girl with characteristic facies and heart murmur, and with findings on ophthalmoscopy, slit-lamp biomicroscopy, fundus autofluorescence imaging, optical coherence tomography, full-field electroretinography, and multifocal electroretinography consistent with panretinal rod-cone dystrophy, has been reported...
2015: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/26078681/predictors-of-postnatal-complications-and-congenital-cardiac-diseases-in-infants-of-mothers-with-pregestational-and-gestational-diabetes
#5
Savaş Demirpençe, Banu İnce Demirpençe, Timur Meşe, Sertaç Arslanoğlu, Vedide Tavlı, Şebnem Çalkavur, Özgür Olukman, Ali Rıza Firuzan
AIM: In this study, we aimed to evaluate the postnatal problems of infants of mothers with pregestational and gestational diabetes and the clinical properties of infants who were found to have congenital cardiac disease. MATERIAL AND METHODS: We retrospectively examined the records of 337 newborns who were followed up with a diagnosis of infant of diabetic mother between January 2010 and January 2012 in our Neonatology Unit. The demographic data of the diabetic mothers and their babies, the postnatal problems of the babies of diabetic mothers and congenital heart diseases found on transthoracic echocardiography were examined...
December 2014: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/26076142/jag1-mutation-spectrum-and-origin-in-chinese-children-with-clinical-features-of-alagille-syndrome
#6
Liting Li, Jibin Dong, Xiaohong Wang, Hongmei Guo, Huijun Wang, Jing Zhao, Yiling Qiu, Kuerbanjiang Abuduxikuer, Jianshe Wang
Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which is most frequently due to JAG1 mutations. This study investigated the rate, spectrum, and origin of JAG1 mutations in 91 Chinese children presenting with at least two clinical features of Alagille syndrome (cholestasis, heart murmur, skeletal abnormalities, ocular abnormalities, characteristic facial features, and renal abnormalities). Direct sequencing and/or multiplex-ligation-dependent probe amplification were performed in these patients, and segregation analysis was performed using samples available from the parents...
2015: PloS One
https://www.readbyqxmd.com/read/25638345/congenital-heart-disease-causes-diagnosis-symptoms-and-treatments
#7
RongRong Sun, Min Liu, Lei Lu, Yi Zheng, Peiying Zhang
The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect...
July 2015: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/25213570/hypertrophic-cardiomyopathy-in-pompe-disease-is-not-limited-to-the-classic-infantile-onset-phenotype
#8
Dong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Patients with classic infantile-onset Pompe disease usually present with hypertrophic cardiomyopathy and die before 1 year of age, if not treated with enzyme replacement therapy (ERT). In comparison, patients with late-onset Pompe disease typically do not have hypertrophic cardiomyopathy. However, here we describe five patients who presented with hypertrophic cardiomyopathy but did not fit the criteria of classic infantile-onset Pompe disease...
2014: JIMD Reports
https://www.readbyqxmd.com/read/23758042/-congenital-cardiac-anomalies-pentalogy-of-fallot-in-a-two-year-old-ram-with-brachygnathia-inferior
#9
Ricarda Pielmeier, Elisabeth Engelke, Marko Legler, Verena Haist, Charlotte Hopster-Iversen, Ottmar Distl
In a nearly two-year-old ram, descending from a breeding trial to investigate the effects of shortness of the lower jaw (brachygnathia inferior), a congenital cardiac anomaly was observed. At the age often months the affected animal, a cross breed of Cameroon Sheep and East Friesian Milk Sheep, showed exercise-induced respiratory distress for the first time. Auscultation revealed a loud systolic heart murmur (grade 5) on both sides of the thorax, most prominent over the left third intercostal space at shoulder height...
May 2013: Berliner und Münchener Tierärztliche Wochenschrift
https://www.readbyqxmd.com/read/22050842/genome-wide-analysis-of-mitral-valve-disease-in-cavalier-king-charles-spaniels
#10
Anne T French, Rob Ogden, Cathlene Eland, Gibran Hemani, Ricardo Pong-Wong, Brendan Corcoran, Kim M Summers
The Cavalier King Charles Spaniel (CKCS) is prone to severe early onset mitral valve disease. In this study, 36 purebred CKCS dogs were evaluated for mitral valve murmur and divided into early and late onset groups. A genome-wide genetic approach was used to assess whether the condition is determined by a small number of genetic factors. There were no regions of highly discrepant homo/heterozygosity in the two groups. Similarly, there was no evidence for loci associated with mitral valve murmur in a genome-wide association study...
July 2012: Veterinary Journal
https://www.readbyqxmd.com/read/22010618/evaluation-and-management-of-heart-murmurs-in-children
#11
REVIEW
Jennifer E Frank, Kathryn M Jacobe
Heart murmurs are common in healthy infants, children, and adolescents. Although most are not pathologic, a murmur may be the sole manifestation of serious heart disease. Historical elements that suggest pathology include family history of sudden cardiac death or congenital heart disease, in utero exposure to certain medications or alcohol, maternal diabetes mellitus, history of rheumatic fever or Kawasaki disease, and certain genetic disorders. Physical examination should focus on vital signs; age-appropriate exercise capacity; respiratory or gastrointestinal manifestations of congestive heart failure; and a thorough cardiovascular examination, including features of the murmur, assessment of peripheral perfusion, and auscultation over the heart valves...
October 1, 2011: American Family Physician
https://www.readbyqxmd.com/read/21971903/sydenham-s-chorea-in-a-family-with-huntington-s-disease-case-report-and-review-of-the-literature
#12
REVIEW
Rita Santos-Silva, Susana Corujeira, Ana Filipe Almeida, Sofia Granja, Cláudia Moura, Inês Azevedo, Miguel Leão, Ana Maia
CONTEXT: Sydenham's chorea affects almost 30% of patients with acute rheumatic fever. It is more frequent in females and is rare in the first decade of life, and genetic vulnerability underlies it. Because of easy access to antibiotics, it is now rare in so-called developed countries. CASE REPORT: A 6-year-old boy with a family history of Huntington's disease, who was the only child of an unscreened and asymptomatic mother, was brought for a consultation because of migratory arthralgia, depressed mood, and rapid, abrupt and unintentional movements of his right arm and leg, that had evolved over a three-week period...
2011: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/21143232/a-prospective-study-of-systolic-ejection-murmurs-and-left-ventricular-outflow-tract-in-boxers
#13
K Höglund, J Häggström, C Bussadori, C Kvart
OBJECTIVES: To investigate the prevalence and progression of murmurs and the development of the left ventricular outflow tract (LVOT) and flow velocities in the great arteries in boxer puppies through adolescence until three years of age. METHODS: Nineteen boxer puppies with or without a low-intensity murmur, but without evidence of congenital heart disease, were studied prospectively. Examinations were carried out at 7 weeks, 3, 4, 6, 9, 12 and 36 months of age by cardiac auscultation and Doppler echocardiography...
January 2011: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/20391638/congenital-cardiac-defects-in-neonatal-foals-18-cases-1992-2007
#14
T L Hall, K G Magdesian, M D Kittleson
BACKGROUND: Literature available regarding congenital cardiac defects in foals is limited to reports of individual cases or small case series. OBJECTIVE: To describe the clinical, echocardiographic, and necropsy findings and breed predilection of congenital cardiac defects in neonatal foals. ANIMALS: Eighteen foals < 15 days of age with 1 or more congenital cardiac defects. METHODS: Medical records of foals diagnosed with congenital cardiac defects at the William R...
January 2010: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/20386415/infantile-onset-pompe-disease-a-diagnosis-not-to-miss
#15
Cinnamon A Dixon, Jeffrey B Anderson, Richard M Ruddy, Linda H Cripe
Pompe disease is a rare genetic disorder that affects glycogen and lysosome storage secondary to a deficiency in the enzyme that breaks down glycogen (acid alpha-glucosidase). With such deficiency, glycogen buildup occurs within lysosomes and cells, causing dysfunction of several organ systems (typically skeletal and respiratory muscles). Within this disease, the spectrum of severity is attributed to the differing amounts of enzyme deficiency. The most severe and lethal of the spectrum is infantile-onset Pompe disease...
April 2010: Pediatric Emergency Care
https://www.readbyqxmd.com/read/20347358/heritability-of-premature-mitral-valve-disease-in-cavalier-king-charles-spaniels
#16
Tom Lewis, Simon Swift, John A Woolliams, Sarah Blott
Mixed model analysis of 1252 records of cardiac auscultation of 4- to 5-year-old Cavalier King Charles spaniels (CKCS) from 1991 to 2008 in conjunction with the Kennel Club pedigree records of all dogs registered from the mid 1980s to September 2007 was used to estimate variance parameters of premature mitral valve disease (MVD). Data were limited to dogs ≥4 and <5 years of age to ensure diagnostic distinction between early and late onset MVD. Cardiac murmurs were detected in 108/1252 (8.6%) dogs. Heritability estimates of 0...
April 2011: Veterinary Journal
https://www.readbyqxmd.com/read/20186037/noncompaction-of-ventricular-myocardium-associated-with-hypertrophic-cardiomyopathy-and-polycystic-kidney-disease
#17
Rajesh Ramineni, Ramanna Merla, Alexander Chernobelsky
Noncompaction of ventricular myocardium (NVM), a relatively new diagnostic entity, is described as an arrest in the process of compaction of myocardial fibers, which results in a prominent trabecular network and deep intertrabecular recesses. Its coexistence with other cardiac anomalies like hypertrophic obstructive cardiomyopathy (HOCM) or polycystic kidney disease (PKD) had been reported in the past. We report the first case with all 3 different inherent conditions (NVM, HOCM, and PKD) manifesting in 1 patient...
April 2010: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/20062791/ochronosis-as-an-unusual-cause-of-valvular-defect-a-case-report
#18
Andreas Wilke, Dietmar Steverding
INTRODUCTION: Alkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid deposits in connective tissue. In rare cases, ochronosis can cause valvular heart disease. CASE PRESENTATION: We present the case of a 68-year-old Caucasian man with alkaptonuria-associated degenerative valvular defects with aortic, mitral and tricuspid valve insufficiency. The patient did not have any cardiac complaints and was referred to our clinic for evaluation of a conspicuous new heart murmur...
2009: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/19822442/interleukin-1-receptor-antagonist-gene-il1rn-polymorphism-possibly-associated-to-severity-of-rheumatic-carditis-in-a-brazilian-cohort
#19
Pedro Ming Azevedo, Raquel Bauer, Valeria de Falco Caparbo, Clovis Artur Almeida Silva, Eloísa Bonfá, Rosa Maria Rodrigues Pereira
AIMS: To evaluate the IL1RN polymorphism as a possible marker for Rheumatic Fever (RF) susceptibility or disease severity. METHODS: The genotypes of 84 RF patients (Jones criteria) and 84 normal race-matched controls were determined through the analysis of the number of 86-bp tandem repeats in the second intron of IL1RN. The DNA was extracted from peripheral-blood leukocytes and amplified with specific primers. Clinical manifestations of RF were obtained through a standardized questionnaire and an extensive chart review...
January 2010: Cytokine
https://www.readbyqxmd.com/read/19228357/hemolysis-myopathy-and-cardiac-disease-associated-with-hereditary-phosphofructokinase-deficiency-in-two-whippets
#20
Karen Gerber, John W Harvey, Sara D'Agorne, Jonathan Wood, Urs Giger
Two male castrated Whippet littermates were presented at 1 year of age for pallor, tachycardia, systolic heart murmur, dark yellow to orange feces, intermittent lethargy, pigmenturia, and muscle shivering or cramping after exercise. Persistent macrocytic hypochromic anemia with marked reticulocytosis and metarubricytosis was found when CBC results were compared with reference values for Whippets. Increased serum creatine kinase activity and hyperkalemia also were sometimes present over the 4-year period of evaluation...
March 2009: Veterinary Clinical Pathology
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