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heart murmur genetics

Ruo-Hao Wu, Dong-Fang Li, Wen-Ting Tang, Kun-Yin Qiu, Yu Li, Xiong-Yu Liao, Dan-Xia Tang, Li-Jun Qin, Bing-Qing Deng, Xiang-Yang Luo
BACKGROUND: Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing congenital heart defect...
January 24, 2018: Journal of Medical Case Reports
Hua Li, Jia-Jia Liu, Mei Deng, Li Guo, Ying Cheng, Yuan-Zong Song
Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred to the hospital with jaundiced skin and sclera for 3 months. Physical examination revealed wide forehead and micromandible. A systolic murmur of grade 3-4/6 was heard between the 2th and 3th intercostal spaces on the left side of the sternum...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Hashem Jarineshin, Fereydoon Fekrat, Mehdi Feiz Dowlat Abadi
Osteopetrosis is a rare genetic disorder of osteoclast dysfunction leading to anatomical and physiological disorders. We present the anesthesia management for the femur fracture of a 4-year-old girl with malignant infantile type of osteopetrosis. She had a ventriculoperitoneal shunt, impaired motion, visual disturbance, growth failure, facial deformity, heart murmur of moderate tricuspid regurgitation, and left ventricular heart failure, with splenomegaly and severe anemia.
July 2017: Anesthesia, Essays and Researches
Christina L Marino, Jimmy N S N Tran, Tracy Stokol
A 4-y-old neutered male German Shepherd Dog was presented with a 3-d duration of lethargy, restlessness, and vomiting. Physical examination revealed generalized lymphadenopathy, pale mucous membranes, systolic heart murmur, dehydration, and fever. Hematologic abnormalities included moderate-to-marked leukocytosis, characterized by neutrophilia with a left shift to progranulocytes and 2% presumptive myeloid blasts, marked anemia that was nonregenerative, and marked thrombocytopenia. Dysplasia was evident in neutrophils and platelets...
May 2017: Journal of Veterinary Diagnostic Investigation
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
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
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
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
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
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
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, , 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
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
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
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
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
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
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
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
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
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
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