scholarly journals A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA

2020 ◽  
Vol 6 (3) ◽  
pp. e123-e126
Author(s):  
Michelle L. Miles ◽  
Natasha Cowan ◽  
Gavin Jackson
Keyword(s):  
Genetic Testing ◽  
Nonsense Mutation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Patients With Diabetes ◽  
Great Vessels ◽  
History Of ◽  
Insulin Dependent ◽  
Pancreatic Agenesis ◽  
Nonobese Patients

Objective: To report a case of diabetes mellitus (DM) associated with partial pancreatic agenesis and congenital heart disease (CHD) in a patient found to have a nonsense mutation of the GATA6 gene. Methods: We present the imaging, laboratory, and genetic findings, and describe the clinical course of a patient with an atypical presentation of DM as well as CHD, who was found to have partial pancreatic agenesis on computed tomography (CT) imaging. Genetic testing was performed to identify monogenic DM. Results: A 30-year-old nonobese female with a waxing and waning pattern of insulin-dependent DM diagnosed at the age of 20 was found to have partial pancreatic agenesis on CT scan. It was unclear whether the patient was experiencing undetected hyperglycemia prior to initial diagnosis of DM. She had no history of diabetic ketoacidosis (DKA) despite poorly-controlled diabetes and years without insulin treatment. The patient also had congenital tricuspid atresia, ventricular septal defect, and transposition of the great vessels with surgical correction in childhood. Partial pancreatic agenesis and CHD with atypical DM prompted genetic testing for monogenic DM, and a nonsense mutation of the GATA6 (c.1242C>A, p.C414*) gene was found. Conclusion: GATA6 mutations are associated with a broad spectrum of diabetic phenotypes, pancreatic agenesis, and a variety of CHDs. This case highlights the importance of considering monogenic diabetes in young, nonobese patients with diabetes, particularly with negative pancreatic antibodies and no history of DKA. Further, this case demonstrates the importance of testing for GATA6 mutations in any young patient with diabetes and CHD.

Nasal mucociliary clearance in patients with diabetes mellitus

1989 ◽  
Vol 103 (9) ◽  
pp. 853-855 ◽  
Author(s):  
W. L. Yue
Keyword(s):  
Diabetes Mellitus ◽  
Mucociliary Clearance ◽  
Mean Value ◽  
Nasal Disease ◽  
Patients With Diabetes ◽  
History Of ◽  
Insulin Dependent ◽  
Mucociliary Function ◽  
The Mean ◽  
Nasal Mucociliary Clearance

AbstractFifty insulin-dependent diabetics and 50 non-diabetics without a history of nasal disease have been studied for nasal problems including mucociliary function complicated by diabetes mellitus. For the diabetics, the mean value of nasal mucociliary clearance was considerably decreased and this was more often associated with dry noses but increased pH-values, both of which were higher than those for non-diabetics (p<0.05). As suggested in earlier literature, more aggressive nasal moistening therapy must be recommended for those patients presenting with these conditions in the light of systemic diabetic abnormalities.

scholarly journals Study of Risk Factors for Conegnital Heart Defect in a Tertiary Level Hospital

2018 ◽  
Vol 27 (1) ◽  
pp. 51-56
Author(s):  
Ferdousi Hossain Poly ◽  
Syeda Afroza ◽  
Hasanur Rahman ◽  
Md Imran Hassan
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Maternal Age ◽  
Congenital Heart ◽  
Heart Defects ◽  
Medical College ◽  
History Of ◽  
The Difference

A congenital heart defect is a heart problem which is present at birth, caused by improper development of the heart during fetal development. In majority of cases there is no known reason for the heart to develop improperly. Some type of congenital heart defects are related to chromosomal abnormality(5-6%), some are to single gene defect(3-5%) or environmental factors(2%). In 85-90% of cases there is no identifiable cause and are generally considered to be caused by multifactorial inheritance. There are some maternal factors which have some role in cardiovascular malformations. These include high maternal age(above 30 years), maternal obesity, consanguinity among the parents, fever during pregnancy, gestational diabetes mellitus, smoking, alcohol consumption, ingestion of any teratogenic drug including homeopathy and herbal medicine. Objective of the study: To evaluate the risk factors associated with congenital heart disease. Methodology: A case control study was conducted at paediatric department of Sir Salimullah Medical College & Mitford Hospital following approval of the protocol from 1st January 2013 to 30th June 2014. Children fulfilling the inclusion criteria-(0-5 year old children of both sexes admitted in paediatric units of Mitford Hospital with any type of congenital heart disease confirmed by echocardiography) were considered as cases. A similar number of age and sex matched children admitted in Mitford Hospital without any cardiac defect were considered as controls. Data were collected by questionnaire. Results: The results show that majority of the cases are male. Maternal age (27.09 ± 4.63) and BMI (24.10 ± 2.28) both are significantly higher in cases than those of controls. Among the cases 31.8% mothers had consanguineous marriage (p=0.001) and 27.1% mothers had history of fever during pregnancy whereas it was present in 9.3% mothers of controls, the difference is significant statistically (p=0.001). Among the cases 34.6% mothers had history of gestational diabetes mellitus and only 18.9% controls had so and the difference is significant statistically (p=0.014). Conclusion: Relatively old age and more weight during pregnancy, consanguinity between parents, fever during pregnancy, history of gestational diabetes mellitus are the main risk factors of congenital heart defects in children J Dhaka Medical College, Vol. 27, No.1, April, 2018, Page 51-56

Hypoplastic Left Heart Syndrome: Natural History in a Geographically Defined Population

PEDIATRICS ◽  
1990 ◽  
Vol 85 (6) ◽  
pp. 977-983
Author(s):  
Cynthia D. Morris ◽  
Jacquelyn Outcalt ◽  
Victor D. Menashe
Keyword(s):  
Natural History ◽  
Hypoplastic Left Heart Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Norwood Procedure ◽  
Secular Change ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
History Of ◽  
Left Heart Syndrome

Advances in surgical treatment of hypoplastic left heart syndrome with the Norwood procedure and cardiac transplantation have made essential the understanding of the natural history of hypoplastic left heart syndrome. In a geographically defined population, we ascertained the prevalence of hypoplastic left heart syndrome in children born in Oregon from 1971 through 1986. Clinical and anatomic data were extracted from the charts of the 98 affected children and the survival rate was calculated. Hypoplastic left heart syndrome occurred in 0.162 per 1000 live births in Oregon during this period. No syndrome complex was prevalent and 84% were free of other congenital malformations. However, there was an increased occurrence of congenital heart defects in first-degree relatives of probands with hypoplastic left heart syndrome. Of the affected children 15 ± 4% died on the first day of life, 70 ± 5% died within the first week, and 91 ± 3% died within 30 days. No secular change in survival occurred during the study. Palliation with the Norwood procedure was performed in 20 children. Although survival was significantly improved with this surgery (P = .01), the effect was observed principally through 30 days of life and only one of these children remains alive. Hypoplastic left heart syndrome is a lethal congenital heart defect in children and poses management and ethical dilemmas.

scholarly journals A clinical importance of natriuretic peptides in pediatric practice

2017 ◽  
Vol 21 (1) ◽  
pp. 117 ◽  
Author(s):  
E. V. Saperova ◽  
I. V. Vakhlova
Keyword(s):  
Congenital Heart Defects ◽  
Natriuretic Peptides ◽  
Conflict Of Interest ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Importance ◽  
Volume Overload ◽  
Disease Outcomes ◽  
History Of

<p class="a">Natriuretic peptides (NUP) are peptide hormones secreted by cardiomyocytes in response to a volume overload of the heart. Emphasis in the article is placed on the history of NUP discovery, their chemical structure and pathophysiological mechanisms of action. The data on determination of NUP reference values in children with cardiac pathologies are analyzed. A NUP clinical significance in early diagnosis of heart failure in children, including those with congenital heart defects is shown. Also considered is NUP dynamics after surgical correction of congenital heart defects. A conclusion is drawn that NUP play an important prognostic role in evaluating early and late postoperative periods and disease outcomes on a whole.</p><p align="JUSTIFY">Received 11 October 2016. Accepted 22 December 2016.</p><p align="JUSTIFY"><strong>Funding: </strong>The study had no sponsorship.</p><p align="JUSTIFY"><strong>Conflict of interest: </strong>The authors declare no conflict of interest.</p><p align="JUSTIFY"><strong>Author contributions</strong></p><p align="JUSTIFY">All authors contributed equally at all stages of the research.</p>

scholarly journals Maternal sociodemographic characteristics, early pregnancy behaviours, and livebirth outcomes as congenital heart defects risk factors - Northern Ireland 2010-2014

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hafi Saad ◽  
Marlene Sinclair ◽  
Brendan Bunting
Keyword(s):  
Risk Factors ◽  
Northern Ireland ◽  
Birth Outcomes ◽  
Congenital Heart Defects ◽  
Early Pregnancy ◽  
Gestational Age ◽  
Congenital Heart ◽  
Heart Defects ◽  
Sociodemographic Characteristics ◽  
History Of

Abstract Background Congenital Heart Defects (CHD) is the most commonly occurring congenital anomaly in Europe and a major paediatric health care concern. Investigations are needed to enable identification of CHD risk factors as studies have given conflicting results. This study aim was to identify maternal sociodemographic characteristics, behaviours, and birth outcomes as risk factors for CHD. This was a population based, data linkage cohort study using anonymised data from Northern Ireland (NI) covering the period 2010-2014. The study cohort composed of 94,067 live births with an outcome of 1162 cases of CHD using the International Statistical Classification of Diseases and Related Health Problems (ICD)-10 codes and based on the European Surveillance of Congenital Anomalies (EUROCAT) grouping system for CHD. CHD cases were obtained from the HeartSuite database (HSD) at the Royal Belfast Hospital for Sick Children (RBHSC), maternal data were extracted from the Northern Ireland Maternity System (NIMATS), and medication data were extracted from the Enhanced Prescribing Database (EPD). STATA version 14 was used for the statistical analysis in this study, Odds Ratio (OR), 95% Confident intervals (CI), P value, and logistic regression were used in the analysis. Ethical approval was granted from the National Health Service (NHS) Research Ethics Committee. Result In this study, a number of potential risk factors were assessed for statistically significant association with CHD, however only certain risk factors demonstrated a statistically significant association with CHD which included: gestational age at first booking (AOR = 1.21; 95% CI = 1.04-1.41; P < 0.05), family history of CHD or congenital abnormalities and syndromes (AOR = 4.14; 95% CI = 2.47-6.96; P < 0.05), woman’s smoking in pregnancy (AOR = 1.22; 95% CI = 1.04-1.43; P < 0.05), preterm birth (AOR = 3.01; 95% CI = 2.44-3.01; P < 0.05), multiple births (AOR = 1.89; 95% CI = 1.58-2.60; P < 0.05), history of abortion (AOR = 1.12; 95% CI = 1.03-1.28; P < 0.05), small for gestational age (SGA) (AOR = 1.44; 95% CI = 1.22-1.78; P < 0.05), and low birth weight (LBW) (AOR = 3.10; 95% CI = 2.22-3.55; P < 0.05). Prescriptions and redemptions of antidiabetic (AOR = 2.68; 95% CI = 1.85-3.98; P < 0.05), antiepileptic (AOR = 1.77; 95% CI = 1.10-2.81; P < 0.05), and dihydrofolate reductase inhibitors (DHFRI) (AOR = 2.13; 95% CI = 1.17-5.85; P < 0.05) in early pregnancy also showed evidence of statistically significant association with CHD. Conclusion The results of this study suggested that there are certain maternal sociodemographic characteristics, behaviours and birth outcomes that are statistically significantly associated with higher risk of CHD. Appropriate prevention policy to target groups with higher risk for CHD may help to reduce CHD prevalence. These results are important for policy makers, obstetricians, cardiologists, paediatricians, midwives and the public.

CONGESTIVE HEART FAILURE

PEDIATRICS ◽  
1956 ◽  
Vol 18 (3) ◽  
pp. 491-500 ◽  
Author(s):  
John D. Keith
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Heart Muscle ◽  
Congenital Heart ◽  
Heart Defects ◽  
Age At Onset ◽  
Pericardial Disease ◽  
Great Vessels

HEART failure is associated with an inability of the heart to empty itself adequately, with the result that there is a high venous filling pressure and a decrease in the effective work done by the heart muscle. There are several factors that, if sufficiently severe, will produce congestive heart failure in either infancy or childhood. These include valvular obstruction or insufficiency; mechanical obstruction of the heart as a whole, as in pericardial disease; the physical effects of large intracardiac shunts which increase the load on one or both ventricles; the presence of raised pressure in the pulmonary or systemic circulation; inflammatory reactions in the heart muscle or oxygen lack; and, finally, certain metabolic disturbances, such as hyperthyroidism or hypothyroidism. One or more of these factors may be operating in the same child, as in rheumatic fever where myocarditis is associated with valvular insufficiency, or in congenital heart disease with pulmonary stenosis and patent foramen ovale, where the right ventricle has a high pressure to maintain and is at the same time being offered cyanotic blood from the coronaries. PATIENT MATERIAL In analyzing 1,580 cases of congenital heart disease at the Hospital for Sick Children, Toronto, 20 per cent were found to have had failure at some time. In 90 per cent of these failure occurred in the first year of life. A list of the various causes of heart failure in the pediatric age group in order of frequency follows. [see table in source pdf] In certain types of heart defects failure develops in characteristic age groups. For example, during the first week of life the most common cause of heart failure is aortic atresia. From 1 week to 1 month, coarctation of the aorta leads. From 1 to 2 months, transposition of the great vessels predominates. From 2 to 3 months, endocardial fibroelastosis is the chief cause of heart failure, with transportation of the great vessels second to it. The actual incidence of type of heart defect in relation to age at onset of heart failure is as follows.

Congenital Heart Defects in Neonates: Determining the Incidence of Genetic Testing and Follow-up Consultation at UCLA

2015 ◽  
Vol 208 (6) ◽  
pp. 359
Author(s):  
Sibel Kantarci ◽  
Claire Baldauf ◽  
Elena Minakova ◽  
Joanna Parga ◽  
Isabell Purdy ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Reiterative Mechanisms of Retinoic Acid Signaling during Vertebrate Heart Development

2019 ◽  
Vol 7 (2) ◽  
pp. 11 ◽  
Author(s):  
Eliyahu Perl ◽  
Joshua S. Waxman
Keyword(s):  
Retinoic Acid ◽  
Heart Development ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Regeneration ◽  
Retinoic Acid Signaling ◽  
Vertebrate Development ◽  
History Of Research ◽  
History Of ◽  
Synthesis And Degradation

Tightly-regulated levels of retinoic acid (RA) are critical for promoting normal vertebrate development. The extensive history of research on RA has shown that its proper regulation is essential for cardiac progenitor specification and organogenesis. Here, we discuss the roles of RA signaling and its establishment of networks that drive both early and later steps of normal vertebrate heart development. We focus on studies that highlight the drastic effects alternative levels of RA have on early cardiomyocyte (CM) specification and cardiac chamber morphogenesis, consequences of improper RA synthesis and degradation, and known effectors downstream of RA. We conclude with the implications of these findings to our understanding of cardiac regeneration and the etiologies of congenital heart defects.

scholarly journals Analysis of the dynamics of congenital heart defects in newborns in the territory of the Novosibirsk region for 2015-2019

2020 ◽  
pp. 36-37
Author(s):  
М.А. Васильева
Keyword(s):  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ventricular Septal Defects ◽  
Transposition Of Great Vessels ◽  
Septal Defects ◽  
Novosibirsk Region ◽  
Infant And Child Mortality ◽  
Great Vessels ◽  
Observation Period

Врожденные пороки сердечно-сосудистой системы (ВПС) выходят на первое место среди причин, приводящих к младенческой и детской смертности, а также инвалидности. По результатам проведённого исследования выявлено, что в структуре врожденных пороков развития 37,3% составляют ВПС. Средний срок выявления ВПР/МВПР методами пренатальной диагностики составил 23,9±2,3 недель беременности. Отмечается рост дефектов межжелудочковой перегородки на 118%, транспозиции магистральных сосудов на 61%, дефектов межпредсердной перегородки на 37% за период наблюдения. В структуре младенческой смертности ВПС составили 35,12%. Congenital malformations of the cardiovascular system (СHD) rank first among the causes leading to infant and child mortality, as well as disability. It was revealed that in the structure of congenital malformations in Novosibirsk region, 37.3% are CHD. The average term for prenatally detecting CHD was 23.9 ± 2.3 weeks of gestation. There was an increase of ventricular septal defects by 118%, transposition of great vessels by 61%, and atrial septal defects by 37% during the observation period. In the structure of infant mortality, CHD accounted for 35.12%.

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