Two Novel GATA6 Mutations Cause Childhood-Onset Diabetes Mellitus, Pancreas Malformation and Congenital Heart Disease

2013 ◽  
Vol 79 (4) ◽  
pp. 250-256 ◽  
Author(s):  
Maolian Gong ◽  
Deimante Simaite ◽  
Peter Kühnen ◽  
Michael Heldmann ◽  
Francesca Spagnoli ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Childhood Onset ◽  
Onset Diabetes

scholarly journals Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Begona Sanchez-Lechuga ◽  
Muhammad Saqlain ◽  
Nicholas Ng ◽  
Kevin Colclough ◽  
Conor Woods ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Congenital Heart ◽  
De Novo ◽  
Adult Onset ◽  
Onset Diabetes ◽  
Adult Onset Diabetes ◽  
Pancreatic Agenesis

scholarly journals Echocardiographic Study of Congenital Heart Disease in Infants of Diabetic Mother

2019 ◽  
Vol 8 (1) ◽  
pp. 43-47
Author(s):  
Babita Khanal ◽  
Manoj Kumar Shrivastava ◽  
Prakash Kafle ◽  
Pushpa Kumari Shah
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Risk Factor ◽  
Heart Disease ◽  
Congenital Heart ◽  
College Teaching ◽  
Maternal Diabetes ◽  
Diabetic Mother ◽  
Medical College ◽  
Maternal Diabetes Mellitus

Background: Maternal diabetes mellitus (DM) has been shown to be high risk factor for congenital anomalies. It carries 3-5 times higher risk of incidence compared to the general population. The aims of present study is to investigate and portray the incidence of congenital heart disease in infants of diabetic mothers and know the utility of echocardiography in the early diagnosis of CHD at Nobel Medical College teaching hospital, a tertiary care centre in the eastern part of Nepal and review the current literature. Material & Methods: This is a prospective observational study conducted in Nobel Medical College Teaching hospital, Kanchanbari, Biratnagar Nepal over the period of 12 months. A structured questionnaire was designed which included demographic profile and the Echocardiography findings. The collected data were analysed using window’s SPSS version 20. Results: In the present study of the total deliveries 1.99 % was diabetic mother comprising 208 deliveries.127 had undergone echocardiography in which 10.2 % (n=13) had anomalies. One hundred sixteen were term and 11 were preterm. PDA was the most common anomaly (38.4%) followed by VSD (23.1%) and HCM (15.4%). Conclusion: With the review of current literature it has been found that maternal diabetes mellitus is a significant risk factor for congenital heart disease so it is suggested that the presence of diabetes mellitus in a pregnancy should be taken as a strong suspicious of having CHD and infants should be screened for the same .so as to diagnose the anomaly at the earliest possible.

scholarly journals Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities

2019 ◽  
Vol 2019 ◽  
Author(s):  
Yang Timothy Du ◽  
Lynette Moore ◽  
Nicola K Poplawski ◽  
Sunita M C De Sousa
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Umbilical Hernia ◽  
Congenital Heart ◽  
Monogenic Diabetes ◽  
Complex Congenital Heart Disease ◽  
List Type ◽  
Paternal Grandmother ◽  
Renal Abnormalities

Summary A 26-year-old man presented with a combination of permanent neonatal diabetes due to pancreatic aplasia, complex congenital heart disease, central hypogonadism and growth hormone deficiency, structural renal abnormalities with proteinuria, umbilical hernia, neurocognitive impairment and dysmorphic features. His older brother had diabetes mellitus due to pancreatic hypoplasia, complex congenital heart disease, hypospadias and umbilical hernia. Their father had an atrial septal defect, umbilical hernia and diabetes mellitus diagnosed incidentally in adulthood on employment screening. The proband’s paternal grandmother had a congenital heart defect. Genetic testing of the proband revealed a novel heterozygous missense variant (Chr18:g.19761441T>C, c.1330T>C, p.Cys444Arg) in exon 4 of GATA6, which is class 5 (pathogenic) using American College of Medical Genetics and Genomics guidelines and is likely to account for his multisystem disorder. The same variant was detected in his brother and father, but not his paternal grandmother. This novel variant of GATA6 likely occurred de novo in the father with autosomal dominant inheritance in the proband and his brother. The case is exceptional as very few families with monogenic diabetes due to GATA6 mutations have been reported to date and we describe a new link between GATA6 and renal pathology. Learning points: Monogenic diabetes should be suspected in patients presenting with syndromic features, multisystem congenital disease, neonatal-onset diabetes and/or a suggestive family history. Recognition and identification of genetic diabetes may improve patient understanding and empowerment and allow for better tailored management. Identification of a genetic disorder may have important implications for family planning.

scholarly journals Study of fetal 2D echo in pregnant women with diabetes and gestational diabetes mellitus

2019 ◽  
Vol 8 (11) ◽  
pp. 4213
Author(s):  
Priti A. Hatkar
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Right Atrium ◽  
Congenital Heart ◽  
Fetal Echocardiography ◽  
Tertiary Care ◽  
2D Echocardiography

Background: Diagnosis of diabetes in pregnancy is an important public health issue. Present study was done to study incidence of abnormal foetal 2D echocardiography in women with diabetes and gestational diabetes mellitus and to know their obstetric outcome.Methods: It is a prospective, observational study, which includes 80 patients. It was conducted at our tertiary care centre after the approval by ethics committee, and the results were analysed.Results: Out of 80 patients included, 77% women had GDM and rest 23% had DM. In this study, all patients had fetal 2D echocardiography done. 3 patients had report suggestive of congenital heart disease in the fetus. 1 of them was suggestive of TAPVC, 1 was suggestive of enlarged right atrium, 1 report was suggestive of VSD. Two of the abnormal fetal 2D echocardiography diagnosis of TAPVC and VSD was confirmed by neonatal 2D echo. One baby with Normal antenatal 2D echo had ASD on post-natal evaluation. The baby with antenataly enlarged right atrium had no cardiac anomaly on post-natal evaluation.Conclusions: Incidence of DM/GDM is increasing. As baby is likely to have congenital anomalies, out of which cardiac anomalies are most common, fetal echocardiography is a well-established, accurate, and safe method for diagnosing congenital heart disease. All the babies with abnormal fetal echocardiography need post-natal confirmation.

scholarly journals Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

1994 ◽  
Vol 31 (4) ◽  
pp. 331-333 ◽  
Author(s):  
T Yorifuji ◽  
M Matsumura ◽  
T Okuno ◽  
K Shimizu ◽  
T Sonomura ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pancreatic Hypoplasia

scholarly journals Association of Maternal Diabetes Mellitus and Polymorphisms of the NKX2.5 Gene in Children with Congenital Heart Disease: A Single Centre-Based Case-Control Study

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Mingyi Zhao ◽  
Jingyi Diao ◽  
Peng Huang ◽  
Jinqi Li ◽  
Yihuan Li ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Variants ◽  
Congenital Heart ◽  
Case Control Study ◽  
Case Control ◽  
Healthy Children ◽  
Nucleotide Polymorphisms ◽  
Control Study

Background. Congenital heart disease (CHD) is one of the most common birth defects among newborns, accounting for a large proportion of infant mortality worldwide. However, the mechanisms remain largely undefinable. This study aimed to investigate the association of CHD in offspring of mothers with diabetes mellitus (DM) and single nucleotide polymorphisms (SNPs) of NKX2.5. Methods and Results. A case-control study of 620 mothers of CHD patients and 620 mothers of healthy children admitted to Hunan Children’s Hospital from November 2017 to December 2019 was conducted. We collected the mothers’ information by questionnaire and detected children’s NKX2.5 variants with a MassARRAY system. The interaction coefficient (γ) was used to quantify the estimated gene-environment interactions. Univariate and multivariate analyses both showed that the infants had a higher risk of CHD if their mothers had a history of DM, including gestational DM (GDM) during this pregnancy (adjusted odds ratio [aOR=4.98]), GDM in previous pregnancies (aOR=4.30), and pregestational DM (PGDM) in the 3 months before this pregnancy (aOR=6.78). Polymorphisms of the NKX2.5 gene at rs11802669 (C/C vs. T/T: aOR=4.97; C/T vs. T/T: aOR=2.15) and rs2277923 (T/T vs. C/C, aOR=1.74; T/C vs. C/C, aOR=1.61) were significantly associated with the risk of CHD in offspring. In addition, significant interactions between maternal DM and NKX2.5 genetic variants at rs11802669 (aOR=8.12) and rs2277923 (aOR=17.72) affecting the development of CHD were found. Conclusions. These results suggest that maternal DM, NKX2.5 genetic variants, and their interactions are significantly associated with the risk of CHD in offspring.

Sign in / Sign up

Export Citation Format

Share Document