Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Robinow syndrome, originally described in 1969, consists of mesomelic brachymelia, short stature, genital hypoplasia and characteristic facies. Associated organ system involvement may include developmental delay, congenital heart disease, obstructive disorders of the urinary tract and renal cysts. As there is a potential for airway problems related to the facial features, such as midface hypoplasia and micrognathia, perioperative management of these patients is important. The authors present an 8-year-old boy, previously diagnosed with Robinow syndrome, who was admitted for an emergency surgical procedure. The perioperative implications of this disorder are reviewed.
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PMID:Anaesthetic implications of the child with Robinow syndrome. 1295 Aug 66

Kabuki (Niikawa-Kuroki) syndrome is associated with growth retardation, developmental delay, congenital heart disease, cleft palate, and characteristic facial features. Although the external appearance of the eyes has been well-described, the type and frequency of structural and functional eye anomalies has not been emphasized. We report three children with Kabuki syndrome who also had a retinal coloboma. A diagnosis of CHARGE association was initially suggested in two of the patients before the typical facial features of Kabuki syndrome emerged. A detailed review of reported cases of Kabuki syndrome shows that a variety of eye anomalies are associated with Kabuki syndrome. The incidence of coloboma is greatly increased in Kabuki syndrome. Thus, ophthalmologic abnormalities are frequently associated with Kabuki syndrome, and an ophthalmologic evaluation should be performed for each patient. Phenotypic overlap, including congenital heart, ear, and renal defects, can lead to the diagnosis of CHARGE association, especially since the typical facial features of Kabuki syndrome may not be apparent in early infancy. Thus, Kabuki syndrome should be considered in patients with coloboma if other features consistent with this condition are present, and follow-up evaluations are indicated for establishing the proper diagnosis.
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PMID:Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. 1460 45

Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal.
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PMID:Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. 1565 96

Human metapneumovirus (hMPV) causes respiratory tract infections in all age groups. The characteristics of pediatric hMPV infection in Northern Alberta have not been studied. The objectives of this study were to determine the seasonality of pediatric hMPV infections over a 13-month period, the genetic relationship of hMPV isolates to hMPV detected in other parts of Canada, and the burden of illness and possible risk factors for pediatric hMPV hospitalization. Detection of hMPV by polymerase chain reaction was performed on nasopharyngeal specimens collected from outpatients and inpatients at the Stollery Children's Hospital in Edmonton, Alberta, November 12, 2002-December 31, 2003. Forty-two of 1,079 specimens were positive for hMPV (3.9%) from 41 patients (14 outpatients and 27 inpatients), with a peak incidence during January-April, but isolates were detected 10 months of the year. Co-infection was not detected in 39 specimens from which RSV had been detected. Two hMPV genetic clusters were detected, and the isolates were homologous to those of previous Canadian isolates. Four of the 14 outpatients had reactive airways disease. Possible risk factors in the 27 inpatients included prematurity (n = 8), congenital heart disease (n = 6), gastroesophageal reflux disease or aspiration (n = 6), global developmental delay (n = 5), and multiple congenital anomalies (n = 4). Risk factors for hospitalization appear to be similar to risk factors for respiratory syncytial virus hospitalization.
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PMID:Seasonality and clinical features of human metapneumovirus infection in children in Northern Alberta. 1577 61

The epicardium of the heart originates from a cluster of mesothelial-derived cells that develop beneath the sinus venosus in the embryonic day (E) 9.0-9.5 mouse. The subsequent proepicardium-epicardium transition that forms the epicardial layer of epithelial cells covering the myocardial surface is nearly complete by E10.0-E10.5 and results in a fully covered heart by E11.0. In this study, we show that an established model of congenital heart disease, the retinoid X receptor alpha knockout (RXRalpha-/-) embryo, displays a malformed epicardium. At E10.0-E10.5, the RXRalpha-/- has several large regions of myocardium that remain bare. Furthermore, by E11.5-E12.5, when a complete epithelial layer is formed in the mutant, large regions of the epicardium become distended from the underlying myocardium. Close examination of the E9.5 mutant revealed an elevated apoptosis level within the proepicardial cluster of mesothelial cells. Additionally, among the extracellular matrix proteins analyzed, expression of fibronectin was elevated in the RXRalpha-/- as assessed by immunostaining in paraffin-embedded sections and proepicardial explants. We propose that these events contribute to a developmental delay in the formation of the epicardium, which leads to an abnormal epicardium and ultimately contributes to the cardiac malformations seen in the RXRalpha-/-.
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PMID:Analysis of the proepicardium-epicardium transition during the malformation of the RXRalpha-/- epicardium. 1586 8

We report the development and spontaneous resolution of annular erythematous skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2 microdeletion. The skin lesion developed after she was treated with isoniazid (INH) following exposure to active tuberculosis (TB). After resolution of the skin lesions, this child developed sterile hyperplastic osteomyelitis consistent with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) osteomyelitis in her right mandible triggered by an odontogenic infection. This child had congenital heart disease, dysmorphic facies, recurrent sinopulmonary infection, gastroesophageal reflux disease, scoliosis, reactive periostitis, and developmental delay. She had a low CD4 and CD8 T cell count with a normal 4/8 ratio, but normal cell proliferation and T cell cytokine production in response to mitogens. When she was presented with sterile osteomyelitis of right mandible, she revealed polyclonal hypergammaglobulinemia with elevated erythrocyte sedimentation rate (ESR)/angiotensin converting enzyme (ACE) levels, but negative CRP. Autoimmune and sarcoidosis workup was negative. Inflammatory parameters gradually normalized following resolution of odontogenic infection and with the use of non-steroidal anti-inflammatory drugs (NSAIDs). The broad clinical spectrum of DGS is further expanded with the development of autoimmune and inflammatory complications later in life. This case suggests that patients with the DGS can present with unusual sterile inflammatory lesions triggered by environmental factors, further broadening the clinical spectrum of this syndrome.
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PMID:SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. 1649 84

The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. However, little is known about the consequences of SLUG overexpression in embryonic development. We report SLUG duplication in a child with a unique de novo 8q11.2-->q13.3 duplication associated with tetralogy of Fallot, submucous cleft palate, renal anomalies, hypotonia and developmental delay. To investigate the effects of Slug overexpression on development, we analyzed mice carrying a Slug transgene. These mice were morphologically normal at birth, inferring that Slug overexpression is not sufficient to cause overt morphogenetic defects. In the adult mice, there was a 20% incidence of sudden death, cardiomegaly and cardiac failure associated with incipient mesenchymal tumorigenesis. These findings, while not directly implicating Slug in congenital and acquired heart disease, raise the possibility that Slug overexpression may contribute to specific cardiac phenotypes and cancer development.
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PMID:SLUG (SNAI2) overexpression in embryonic development. 1671 46

More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, microcephaly, growth retardation, developmental delay and congenital heart disease. Here we describe our experiences from a single centre gained over almost three decades. A series of six cases is presented to illustrate key points in management. Ideally, phenylalanine-restricted diet is started before conception in a planned fashion, but some women present pregnant and blood phenylalanine must be lowered rapidly. The aims of management are to maintain blood phenylalanine concentration in the target range (100-250 micromol/L) before and throughout the pregnancy, and to ensure adequate maternal nutrition and appropriate weight gain. Blood phenylalanine is monitored twice, three times a week, before and after conception respectively. Weight is monitored on a weekly basis and key micronutrients are monitored every 6-8 weeks in clinic. From the second trimester onwards, dietary phenylalanine intake has to be promptly increased, as phenylalanine tolerance increases rapidly. Postnatal management includes a neurological assessment of the infant at 4-8 weeks and an echocardiogram for infants conceived off diet. Subsequently, offspring are seen at 1 year, 4 years, 8 years and 14 years for neuropsychometric evaluations. Regular follow-up of the mother remains important whether on or off a phenylalanine-restricted diet.
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PMID:A practical approach to maternal phenylketonuria management. 1735 26

Williams-Beuren syndrome (WS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500-1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. We investigated 22 WS patients (mean age of 9.7 years, range 1 day to 39 years) with a multi-specialist follow-up protocol comprehensive of neuropsychological, cardiologic, nephrologic, ophthalmologic, endocrinologic, gastroenterologic, odontostomatologic and orthopaedic evaluations. The mean age at diagnosis was 5.38 years, being 1.02 years when genetic evaluation was requested for congenital heart defects (CHD) and 10.68 years in case of mental retardation and/or abnormal neuropsychological profile without an evident CHD. All patients showed facial dysmorphisms, with supravalvular aortic stenosis (SVAS) as the most common cardiovascular anomaly (12/22), followed by peripheral pulmonary stenosis (9/22); interestingly, in one patient we detected a total anomalous pulmonary venous return (TAPVR), confirming the possible association of this rare CHD with WS. Hypertension was detected by 24-h ambulatory blood pressure monitoring in 7/22 cases. A cognitive assessment was performed in 13 patients older than 6 years, showing various degrees of mental retardation in 12 and a normal intelligence quotient (IQ) in a single patient; evaluation of developmental milestones revealed various grades of developmental delay in all the patients younger than 6 years. Chiari malformation type 1 was found in 3 patients. Our study underlines a remarkable diagnostic delay in patients who present to genetic evaluation because of mental retardation and/or peculiar neuropsychological profile lacking an evident cardiopathy and confirms the multi-systemic nature of WS leading to a high clinical presentation's variability and complex follow-up strategies.
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PMID:Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. 1762 98

FG syndrome was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies. However, recent reports have highlighted the more common milder presentation which has for cardinal features developmental delay, particularly in speech, neonatal hypotonia, relative macrocephaly, dysmorphic facial features, severe constipation, and few if any congenital malformations. Thus far, five separate loci have been identified on the X chromosome but attempts at finding the responsible gene have not yet been successful. Given that one putative FG locus (FGS2) is situated at Xq28, which is the location of the Filamin A gene (FLNA), and that a Filamin A mutation was reported in a boy with facial dysmorphism and constipation, it was hypothesized that Filamin A mutations could be one cause of FG syndrome. Indeed, a previously unreported FLNA missense mutation (P1291L) was detected in our patient with FG syndrome, thus supporting this hypothesis and indicating that FG syndrome could now be added to the list of Filamin A-related disorders. Filamin A studies in other children with FG syndrome would help to confirm this association.
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PMID:Filamin A mutation is one cause of FG syndrome. 1763 75


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