scholarly journals Congenital heart defects and skeletal malformation syndrome with congenital hemiplegia

2021 ◽  
Vol 8 (4) ◽  
pp. 615
Author(s):  
Balakrishna Teli ◽  
Sneha Biradar
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Case Reports ◽  
Malformation Syndrome ◽  
Skeletal Malformation ◽  
Skeletal Malformations ◽  
History Of ◽  
Current Report ◽  
Rule Out

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history of congenital heart disease (ventricular septal defect) and skeletal malformations which are typical of CHDSKM. Patient also had congenital hemiplegia which is rare in CHDSKMS. Patient also had lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other causes. Current report is one of the rare case reports of CHDSKMS, only few case reports have been published till now.

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.

scholarly journals Factors Related to Congenital Heart Disease in Offspring from Women with Rheumatic Heart Disease: Case reports from Moi Teaching and Referral Hospital, Eldoret, Kenya

2019 ◽  
Vol 2 (3) ◽  
pp. 87-92
Author(s):  
Philippe PA ◽  
Orang’o EO ◽  
Barasa FA
Keyword(s):  
Heart Disease ◽  
Rheumatic Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Case Reports ◽  
Rare Event ◽  
High Morbidity ◽  
Disease Case ◽  
Rheumatic Heart

Maternal exposure to environmental factors has been reported to be associated with birth defects. Congenital heart defects are the most common and are associated with high morbidity and mortality in offspring. However, the relation of maternal rheumatic heart disease to congenital heart defects in the offspring is a rare event not yet reported. The authors report 2 cases of infants with congenital heart defects born from mothers with rheumatic heart disease. This study highlights factors related to congenital heart defects in both newborns.

scholarly journals Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

2017 ◽  
Vol 49 (4) ◽  
pp. 613-617 ◽  
Author(s):  
Xia Wang ◽  
Wu-Lin Charng ◽  
Chun-An Chen ◽  
Jill A Rosenfeld ◽  
Aisha Al Shamsi ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Germline Mutations ◽  
Skeletal Malformations

scholarly journals Congenital Anomalies of the Kidney and Urinary Tract in Children with Congenital Heart Defects

2020 ◽  
Vol 45 (2) ◽  
pp. 307-313
Author(s):  
Dapeng Jiang ◽  
Qi Wang ◽  
Zhengzhou Shi ◽  
Jie Sun
Keyword(s):  
Urinary Tract ◽  
Congenital Heart Defects ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Medical Center ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Number Of Patients ◽  
Significant Difference ◽  
History Of

Background/Aims: To investigate the incidence and clinical characteristics of congenital anomalies of the kidney and urinary tract (CAKUT) in children with congenital heart defects (CHD). Methods: We retrospectively analyzed the clinical data of children with CHD with CAKUT admitted to the Shanghai Children’s Medical Center affiliated with the Shanghai Jiao Tong University School of Medicine between September 2018 and March 2019. Patients underwent routine examinations for liver, kidney, and coagulation function, and urinary tract ultrasonography, and we summarized patients’ clinical manifestations and imaging abnormalities. Results: A total of 1,410 children with CHD were diagnosed and treated in our hospital. The total number of patients with abnormal urogenital systems was 104, and hydronephrosis was the most common abnormality, followed by vesicoureteral reflux and duplication of the kidney and ureter. The overall prevalence of CAKUT was 7.4%. There was no statistically significant difference for maternal age, sex, parity, gestational age, and history of medication during pregnancy between the patients with CAKUT and those without CAKUT. Conclusion: The incidence of CAKUT in our patients with CHD was significantly higher than that in the general population. We recommend urinary ultrasonography as a routine examination for children with CHD for early detection of CAKUT, to avoid missed diagnoses, and to initiate appropriate treatment.

scholarly journals The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome

2020 ◽  
Vol 41 (10) ◽  
pp. 1738-1744 ◽  
Author(s):  
Chun‐An Chen ◽  
Emeline Crutcher ◽  
Harinder Gill ◽  
Tanya N. Nelson ◽  
Laurie A. Robak ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Clinical Phenotype ◽  
Heart Defects ◽  
Skeletal Malformations
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