scholarly journals Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Samuel Bloor ◽  
Dinesh Giri ◽  
Mohammed Didi ◽  
Senthil Senniappan
Keyword(s):  
Short Stature ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Gh Deficiency ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Sensorineural Deafness ◽  
Splice Donor Site ◽  
Heterozygous Mutation ◽  
Facial Dysmorphism

B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height < 2.5 SD). MRI of the pituitary gland revealed a small anterior pituitary. She has multiple dysmorphic features: anteverted nares, small upturned nose, hypertelorism, slight frontal bossing, short proximal bones, hypermobile joints, and downslanting palpebral fissures. Whole exome sequencing (WES) was performed on the genomic DNA from the patient and biological mother. A heterozygous mutation in B3GAT3 (c.888+262T>G) in the invariant “GT” splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.

scholarly journals Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

2018 ◽  
Vol 103 (6) ◽  
pp. 948-967 ◽  
Author(s):  
Joshi Stephen ◽  
Sateesh Maddirevula ◽  
Sheela Nampoothiri ◽  
John D. Burke ◽  
Matthew Herzog ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Facial Dysmorphism ◽  
Neurodevelopmental Delay

Comparison of Right Ventricular Stroke Work for Tetralogy Patient and Normal Subject

2008 ◽  
Author(s):  
Ashish Das ◽  
William Gottliebson ◽  
Rupak K. Banerjee
Keyword(s):  
Right Ventricular ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
The United States ◽  
Stroke Work ◽  
Loading Conditions ◽  
Clinical Issue

Tetralogy of Fallot (TOF), also called blue-baby syndrome is one of the most common congenital heart defects in children after infancy and is estimated to account for 10% of all congenital heart defects [3]. TOF consists of four interrelated lesions: i) ventricular septal defect ii) Pulmonary stenosis iii) Right ventricular (RV) hypertrophy and (iv) Overriding Aorta [3]. TOF has been successfully repaired for several decades (Fig. 1). There are now an estimated 100,000 adult “repaired TOF” patients in the United States alone. As a result, long-term sequelae of the disease and repair have become important clinical issue. Specifically, residual pulmonary valve insufficiency (PI) is one such accepted and often unavoidable sequela. PI, when severe, abnormally alters the RV loading conditions, thereby triggering RV hypertrophy and dilatation. In turn, RV dilatation can evolve into irreversible RV myocardial contractile dysfunction, and has been related to sudden death in many “repaired TOF” patients. To normalize RV loading conditions, pulmonary valve replacement is often necessary and should be performed prior to the onset of irreversible RV myocardial damage.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (4) ◽  
pp. 664-666 ◽  
Author(s):  
Rogerio Nabor Kondo ◽  
Ligia Márcia Mario Martins ◽  
Vivian Cristina Holanda Lopes ◽  
Rodrigo Antonio Bittar ◽  
Fernanda Mendes Araújo
Keyword(s):  
Differential Diagnosis ◽  
Short Stature ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Facial Dysmorphism ◽  
Genetic Syndromes ◽  
Cardiac Defects ◽  
Important Differential Diagnosis ◽  
Dental Malocclusion

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.

scholarly journals Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

2016 ◽  
Vol 98 (6) ◽  
pp. 1235-1242 ◽  
Author(s):  
Lia Boyle ◽  
Mirjam M.C. Wamelink ◽  
Gajja S. Salomons ◽  
Birthe Roos ◽  
Ana Pop ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals A Rare Mutation In Noonan Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 1-4
Author(s):  
Vasco Carvalho ◽  
Keyword(s):  
Short Stature ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Mutation ◽  
Live Births ◽  
Increased Risk

Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.

The prevalence of congenital heart defects in infants with cholestatic disorders of infancy: a single-centre study

2016 ◽  
Vol 101 (9) ◽  
pp. 803-807 ◽  
Author(s):  
Aya M Fattouh ◽  
Engy A Mogahed ◽  
Nehal Abdel Hamid ◽  
Rodina Sobhy ◽  
Noha Saber ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Alagille Syndrome ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Echocardiographic Examination ◽  
Single Centre Study ◽  
Combined Lesions

BackgroundThere is deficiency of data about congenital heart defects (CHDs) in cholestatic disorders of infancy other than Alagille syndrome (AGS). We aimed to define the prevalence and types of CHDs in infants with various causes of cholestatic disorders of infancy.MethodsThis cross-sectional study was conducted on 139 infants presenting with cholestasis whether surgical or non-surgical. The study was carried out at the Pediatric Hepatology Unit, Cairo University Children's Hospital, Egypt. Full examination and investigations were done in an attempt to reach an aetiologic diagnosis for cholestasis, in addition to a comprehensive echocardiographic study.ResultsThe age at the onset of cholestasis ranged from 1 day to 7 months. Males constituted 61.2%. Biliary atresia (BA) was diagnosed in 39 patients (28%), AGS in 16 patients (11.5%), 27 patients had miscellaneous diagnoses and 57 cases had indeterminate aetiology. CHDs were detected in 55 patients (39.5%). Shunt lesions were detected in 24 patients (43.6%), pulmonary stenosis in 18 patients (32.7%) and combined lesions in 9 patients (16.4%). Three patients (5.5%) had abnormal cardiac situs. Only seven patients had clinical presentation suggestive of CHD. CHDs were detected in 14 patients with BA (35.9%), 15 patients with AGS (93.7%) and 26 patients in the remaining group (30.9%).ConclusionCHDs are not uncommon among cholestatic infants and are mostly asymptomatic. Echocardiographic examination of cholestatic infants is recommended particularly for patients with BA before undergoing hepatic portoenterostomy as presence of CHD may impact the anaesthetic planning and affect the outcome of hepatobiliary surgery.

Abstract 11803: Factors Associated With Delayed Diagnosis of Critical Congenital Heart Defects in Texas

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Unnati Doshi ◽  
Syed S Hashmi ◽  
Lisa Marengo ◽  
Surabhi Kaul ◽  
Mousumi Moulik
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Maternal Education ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Delayed Diagnosis ◽  
Coarctation Of Aorta ◽  
Diagnosis Delay ◽  
Diagnostic Code ◽  
Factors Associated

Purpose: Critical congenital heart defects (CCHD) require surgical and/or transcatheter intervention in infancy. They may or may not have ductal dependent circulation. Timely diagnosis before ductal closure is important to reduce morbidity and mortality. Our goal was to identify factors associated with delayed diagnosis of CCHD. Methods: This is a retrospective, population-based, observational study of liveborn infants in Texas born from 2000 - 2009 identified using the Texas Birth Defects Registry (TBDR). Inclusion required a definitive diagnosis of one of 13 selected CCHDs identified by diagnostic code and information on one of three “diagnostic” procedures: prenatal or postnatal echocardiogram or autopsy. Cases with aortic or pulmonary stenosis, coarctation of aorta, tricuspid stenosis or Ebsteins anomaly were included only if they underwent a cardiac surgical or catheterization procedure within 6 weeks of life. Stillborn infants or that died within three days of life (DOL) without evidence of an echocardiogram procedure were excluded. Date of diagnosis was defined as date of first echocardiogram. “Delayed diagnosis” was defined as any date of diagnosis after DOL3. Eligible infants with autopsy as the only “diagnostic” procedure were also classified as “delayed diagnosis”. Logistic regression models were created to identify factors that influence diagnosis delay. Results: A total of 5895 CCHD cases were identified. Diagnosis was delayed in 25% of cases. The CCHDs with highest rates of delayed diagnosis were critical coarctation (34%) and TAPVR (32%). In multivariate analysis, delayed diagnosis was more likely to be associated with single CCHD [adjusted odds ratio (aOR) 1.9; 95% CI 1.5-2.4], low maternal education [aOR1.7; 95% CI 1.2-2.3], prematurity <32wks [aOR 1.6; 95% CI 1.21-2.26], and rural maternal residence [aOR 1.5; 95% CI 1.22-1.94]. Presence of noncardiac defects decreased delayed diagnosis only for a few CCHD phenotypes. Conclusions: A quarter of all births with CCHD have a delayed diagnosis in Texas. Maternal education and residence are associated with the delay. Future studies will have to investigate each CCHD phenotype for specific risk factors.

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