Congenital Heart Diseases
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2021 ◽  
Vol 73 (1) ◽  
Zahra Jabbary ◽  
Mehrnoush Toufan

Abstract Background Aortic coarctation (CoAo) accounts for 6 to 8% of all congenital heart diseases and occurs two to five times more often in males. The uncorrected aortic coarctation is complicated by hypertension, ascending and descending aortic aneurysms, endarteritis, and heart failure. The aortic pseudo-aneurysm (APD) usually occurs in patients with endarteritis. We report an adult man with bicuspid aortic valve, perimembranous ventricular septal defect, and uncorrected aortic coarctation complicated by descending aortic pseudo-aneurysm without aortic endarteritis. Case presentation A 40-year-old man was referred to our division for hemoptysis and severe aortic coarctation. Echocardiography confirmed the aortic coarctation diagnosis and showed a large aortic pseudo-aneurysm at the coarctation site with intra-cavity mural thrombus. Subsequently, the patient underwent contrast-enhanced computed tomography angiography, and diagnosis of coarctation and APD was confirmed. Due to various malformations and considering that the patient had become unstable due to hemoptysis, it was discussed in the heart team, and it was decided that the patient would undergo staged surgery. Conclusions The aortic pseudo-aneurysm is a rare complication in patients with untreated coarctation that requires prompt surgery, and this complication should be considered in patients with untreated aortic coarctation who present with hemoptysis.

2021 ◽  
Vol 20 (2) ◽  
pp. 156-161
Nisha jyoti Shrestha ◽  
Moon Thapa ◽  
Kalpana Upadhaya Subedi ◽  
Subhana Thapa Karki ◽  
Saroja Adhikari ◽  

Introduction: Hypocalcaemia is common metabolic manifestation in neonates and associated with both maternal and foetal conditions. Hypocalcaemia is labeled if term neonate’s total serum calcium is < 8 mg/dl and preterm has < 7 mg/dl. Association of neonatal and maternal hypovitaminosis D is very common. .  Methods: One year retrospective study was conducted in a tertiary level private children hospital of Kathmandu, Nepal from 2018 June to 2019 July. Total 299 cases were selected and serum calcium were sent and analysed for its association with illness, associated maternal hypovitaminosis D and other relevant maternal tests. Result: Among 686 NICU cases, calcium level was sent for 299 cases. Among these, 254 were term and 45 were preterm babies and male to female ratio was 4:1. Mean calcium in term babies were 8.6 mg/dl and in preterm it was 8.1 mg/dl. Hypocalcaemia was found in 19% of cases with mean calcium level was 7.1 ± 0.84 mg/dl and severe hypocalcaemia accounted for 12%. There was no significant presence of hypocalcaemia in relation to gestation of newborn (p value 0.798). We found higher incidence of late onset hypocalcemia than early onset hypocalcemia but was not of statistical significance (p value 0.771). Associated disease were perinatal asphyxia, congenital heart diseases and prematurity. Among 27 late onset hypocalcaemia, 22% had hypovitaminosis D both in neonates and mother. Conclusions: Neonatal hypocalcaemia is a common condition associated with sick newborns. In late hypocalcaemia both newborn and mother should be screened for associated lab tests like vitamin D, magnesium, PTH as there may be association between the two.

Perfusion ◽  
2021 ◽  
pp. 026765912110425
Suman Vimal ◽  
Renuka Ranjan ◽  
Surabhi Yadav ◽  
Gauranga Majumdar ◽  
Balraj Mittal ◽  

Background: Growth retardation, malnutrition, and failure to thrive are some of the consequences associated with congenital heart diseases. Several metabolic factors such as hypoxia, anoxia, and several genetic factors are believed to alter the energetics of the heart. Timely diagnosis and patient management is one of the major challenges faced by the clinicians in understanding the disease and provide better treatment options. Metabolic profiling has shown to be potential diagnostic tool to understand the disease. Objective: The present experiment was designed as a single center observational pilot study to classify and create diagnostic metabolic signatures associated with the energetics of congenital heart disease in cyanotic and acyanotic groups. Methods: Metabolic sera profiles were obtained from 35 patients with cyanotic congenital heart disease (TOF) and 23 patients with acyanotic congenital heart disease (ASD and VSD) using high resolution 1D 1H NMR spectra. Univariate and multivariate statistical analysis were performed to classify particular metabolic disorders associated with cyanotic and acyanotic heart disease. Results: The results show dysregulations in several metabolites in cyanotic CHD patients versus acyanotic CHD patients. The discriminatory metabolites were further analyzed with area under receiver operating characteristic (AUROC) curve and identified four metabolic entities (i.e. mannose, hydroxyacetone, myoinositol, and creatinine) which could differentiate cyanotic CHDs from acyanotic CHDs with higher specificity. Conclusion: An untargeted metabolic approach proved to be helpful for the detection and distinction of disease-causing metabolites in cyanotic patients from acyanotic ones and can be useful for designing better and personalized treatment protocol.

Diego B. Ortega-Zhindón ◽  
Juan Calderón-Colmenero ◽  
José A. García-Montes ◽  
Frida Rivera-Buendía ◽  
Jorge L. Cervantes-Salazar

Severe acute respiratory syndrome coronavirus 2, the etiologic agent of coronavirus disease 2019, has caused more than 160 million infections globally. The experience of our department showed that the execution of a strict surgery protocol, universal severe acute respiratory syndrome coronavirus 2 screening, surgical prioritization, and an orderly reactivation of the cardiac surgery program is a feasible way to keep congenital heart diseases surgery program.

2021 ◽  
Vol 73 (1) ◽  
Sana Ashiq ◽  
Kanwal Ashiq ◽  
Muhammad Farooq Sabar

Abstract Background The gene NKX2-5 is a key transcription factor that plays an essential role in normal cardiac development. Although some recent studies have studied the role of polymorphisms in the NKX2-5 gene in congenital heart diseases (CHDs), the results were not consistent and remained uncertain. Therefore, we conduct a review of literature and investigate the association of genetic polymorphisms with CHDs. Results We selected seventeen studies regarding the association of NKX2-5 gene rs2277923 polymorphism with CHDs. Overall, in all the tested genetic models, the 63A > G polymorphism was not significantly associated with increased congenital heart defects risk. We used pooled odds ratios (OR) to calculate the association of CHDs with rs2277923 including allelic model: OR 1.00, 95% CI 0.82–1.21; homozygote model: OR 0.95, 95%CI 0.68–1.33, recessive model: OR 0.89 CI 0.70–1.13, heterozygote model: OR: 1.09, 95%CI 0.87–1.37, dominant model: OR 1.08 CI 0.82–1.42 and overdominant model: OR 1.17 CI 1.01–1.35. In addition, our analysis suggests that no publication bias exists in this meta-analysis. Conclusions Our findings suggested that 63A > G polymorphism in the NKX2-5 gene was not significantly associated with congenital heart defects. However, in the future, more studies with increased sample size are required that may provide us more definite conclusions.

Cureus ◽  
2021 ◽  
Ramya Balasubramanian ◽  
Sravya Vuppalapati ◽  
Chaithanya Avanthika ◽  
Sharan Jhaveri ◽  
Nikhil Chowdary Peddi ◽  

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Maryam Borjali ◽  
Mostafa Amini-Rarani ◽  
Mehdi Nosratabadi

Introduction. Mortality due to noncommunicable diseases has increased in the world today with the advent of demographic shifts, growing age, and lifestyle patterns in the world, which have been affected by economic and social crises. Congenital heart defects are one of the forms of diseases that have raised infant mortality worldwide. The objective of present study was to identify nonmedical determinants related to this abnormality from the mother’s perspectives. Methods. This research was a qualitative study and the data collection method was a semistructured interview with mothers who had children with congenital heart diseases referring to the Shahid Rajaei Heart Hospital in Tehran, Iran. A thematic analysis approach was employed to analyze transcribed documents assisted by MAXQDA Plus version 12. Results. Four general themes and ten subthemes including social contexts (social harms, social interactions, and social necessities), psychological contexts (mood disorders and mental well-being), cultural contexts (unhealthy lifestyle, family culture, and poor parental health behaviors), and environmental contexts (living area and polluted air) were extracted from interviews with mothers of children with congenital heart diseases. Conclusions. Results suggest that factors such as childhood poverty, lack of parental awareness of congenital diseases, lack of proper nutrition and health facilities, education, and lack of medical supervision during pregnancy were most related with the birth of children with congenital heart disease from mothers’ prospective. In this regard, targeted and intersectorial collaborations are proposed to address nonmedical determinants related to the incidence of congenital heart diseases.

2021 ◽  
Vol 13 (4) ◽  
pp. 320
Hugues Lucron ◽  
Julie d’Orazio ◽  
Laurence Long ◽  
Fabio Cuttone ◽  
Alix Le Harivel de Gonneville ◽  

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