OBJECTIVE: To assess the association of single nucleotide polymorphisms (SNP) of the cell division cycle 42 (CDC42) gene with Pulmonary artery systolic pressure (PASP) among patients with Congenital heart disease (CHD). METHODS: In this observational study, clinical data and blood samples were collected from 579 CHD patients with left-to-right shunt who presented to our hospital between January 2012 and January 2017. SNPs of the CDC42 gene were genotyped using an improved multiple ligase detection reaction. Multiple linear regression was applied to evaluate the association of CDC42 gene variants with PASP. This study was approved by the Medical Ethics Committee of the First Affiliated Hospital of Xinjiang Medical University (Ethics No.: 20180222-102). RESULTS: Polymorphisms at rs2501256 and rs34896897 of the CDC42 gene were significantly associated with PASP. Compared with the CC genotype at rs2501256, TT and CT carriers displayed higher PASP [TT vs. CC: B (95%CI) = 4.01 (1.95, 6.07), P < 0.001; CT vs. CC: B (95%CI) = 2.91 (0.63, 5.19), P < 0.001]. Similarly, GG and GA genotypes at rs34896897 were associated with higher PASP compared to the AA genotype [GG vs. AA: B (95%CI) = 26.15 (20.45, 31.84), P < 0.001; GA vs. AA: B (95%CI) = 7.19 (4.31, 10.08), P < 0.001]. Genetic model analyses demonstrated significant differences for both rs2501256 and rs34896897 under dominant, additive, and recessive models (P < 0.05). TT carriers at rs2501256 exhibited larger left-and right-atrial diameters, whereas GG carriers at rs34896897 showed greater right-atrial and right-ventricular end-diastolic dimensions. Subgroup analyses revealed no association between rs2501256 and PASP in males, individuals younger than 18 years, Uyghur ethnicity, or those with ventricular septal defects. CONCLUSION CHD patients carrying the minor alleles of rs2501256 and rs34896897 in the CDC42 gene present higher incidence of PASP compared to those carrying the common alleles.
Humans ; Male ; Female ; Heart Defects, Congenital/physiopathology* ; Polymorphism, Single Nucleotide ; cdc42 GTP-Binding Protein/genetics* ; Adult ; Child ; Genotype ; Adolescent ; Child, Preschool ; Genetic Predisposition to Disease ; Pulmonary Artery/physiopathology*

Shone’s complex is a rare congenital cardiac malformation characterized by four obstructive lesions affecting the left heart and aortic arch: supramitral membrane, parachute mitral valve, subaortic stenosis, and aortic coarctation, typically presenting in an incomplete form. We report the case of a 6-year-old female with a variant of Shone’s complex, which included subvalvular aortic stenosis, mitral valve stenosis, hypoplastic aortic arch, coarctation of the aorta, and patent ductus arteriosus. Surgical intervention is required in approximately 40% of cases, particularly when accompanied by early pulmonary arterial hypertension. The patient underwent surgical correction and subsequently required venoarterial extracorporeal membrane oxygenation. This report discusses the anesthetic management for a child with Shone’s complex, highlighting strategies to prevent postoperative complications, including heart failure, pneumonia, dysrhythmias, and postcoarctation syndrome.

Shone’s complex is a rare congenital cardiac malformation characterized by four obstructive lesions affecting the left heart and aortic arch: supramitral membrane, parachute mitral valve, subaortic stenosis, and aortic coarctation, typically presenting in an incomplete form. We report the case of a 6-year-old female with a variant of Shone’s complex, which included subvalvular aortic stenosis, mitral valve stenosis, hypoplastic aortic arch, coarctation of the aorta, and patent ductus arteriosus. Surgical intervention is required in approximately 40% of cases, particularly when accompanied by early pulmonary arterial hypertension. The patient underwent surgical correction and subsequently required venoarterial extracorporeal membrane oxygenation. This report discusses the anesthetic management for a child with Shone’s complex, highlighting strategies to prevent postoperative complications, including heart failure, pneumonia, dysrhythmias, and postcoarctation syndrome.

Shone’s complex is a rare congenital cardiac malformation characterized by four obstructive lesions affecting the left heart and aortic arch: supramitral membrane, parachute mitral valve, subaortic stenosis, and aortic coarctation, typically presenting in an incomplete form. We report the case of a 6-year-old female with a variant of Shone’s complex, which included subvalvular aortic stenosis, mitral valve stenosis, hypoplastic aortic arch, coarctation of the aorta, and patent ductus arteriosus. Surgical intervention is required in approximately 40% of cases, particularly when accompanied by early pulmonary arterial hypertension. The patient underwent surgical correction and subsequently required venoarterial extracorporeal membrane oxygenation. This report discusses the anesthetic management for a child with Shone’s complex, highlighting strategies to prevent postoperative complications, including heart failure, pneumonia, dysrhythmias, and postcoarctation syndrome.

Recent decades have seen the remarkable development of China in medical accessibility and quality index, and the application of a number of new advanced cardiovascular technologies benefits more patients. However, according to the Annual Report on Cardiovascular Health and Diseases in China published in this article, which was organized and summarized by National Center for Cardiovascular Diseases, there is still a huge population living with risk factors of cardiovascular diseases (CVD), and the morbidity and mortality of CVD are increasing. It is estimated that there are around 330 million patients suffering from CVD currently, including 245 million of hypertension, 13 million of stroke, 45.3 million of peripheral artery disease, 11.39 million of coronary heart disease (CHD), 8.9 million of heart failure, 5 million of pulmonary heart disease, 4.87 million of atrial fibrillation, 2.5 million of rheumatic heart disease, and 2 million of congenital heart disease. Tobacco use, diet and nutrition factors, physical activity, overweight and obesity, and psychological factors are what affect cardiovascular health, while hypertension, dyslipidemia, diabetes, chronic kidney disease, metabolic syndrome, and air pollution are the risk factors for CVD. In this article, in addition to risk factors for CVD, we also report the epidemiological trends of CVD, including CHD, cerebrovascular disease, arrhythmias, valvular heart disease, congenital heart disease, cardiomyopathy, heart failure, pulmonary vascular disease and venous thromboembolism, and aortic and peripheral artery diseases, as well as the basic research and medical device development in CVD. In a word, China has entered a new stage of transforming from high-speed development focusing on scale growth to high-quality development emphasizing on strategic and key technological development to curb the trend of increasing incidence and mortality of CVD.
Humans ; Cardiovascular Diseases/etiology* ; Hypertension/complications* ; Risk Factors ; Cardiomyopathies ; Heart Failure/complications* ; Heart Defects, Congenital/complications* ; Coronary Disease ; Atrial Fibrillation/complications*

Heart failure (HF) is a major cause of significant morbidity, mortality, and hospitalization worldwide including the Philippines. Congenitally corrected transposition of the great arteries (C-TGA) occurs when the right atrium enters the morphological left ventricle which gives rise to the pulmonary artery and the left atrium communicates with the right ventricle which gives rise to the aorta. Heart failure can occur in C-TGA especially if associated with other heart defects. Ideal management is anatomic correction via surgery to prevent or address heart failure. Peritoneal dialysis has been used as a therapeutic intervention for patients with refractory heart failure and kidney injury with or without kidney failure due to its gentler fluid removal compared to conventional ultrafiltration resulting in less myocardial stunning and neurohormonal activation. We present the case of a patient with heart failure who started on peritoneal dialysis (PD) as an adjunct therapy for fluid management after failing to satisfactorily achieve volume control with diuretics. The patient is a 56-year-old man with C-TGA admitted for decompensated heart failure. He was initially treated with intravenous diuretics on the first admission but was readmitted after 3 months for decompensation this time with borderline low blood pressure making diuresis difficult. The patient was given loop diuretics, tolvaptan, and angiotensin receptor neprilysin inhibitor (ARNI) but still with decreasing trends in urine output and inadequate symptom control. PD was initiated before discharge with subsequent improvement in heart failure symptoms. The patient was on regular follow-up for PD maintenance and titration of heart failure medication. In this case report, we have shown how PD can be an effective adjunct to guideline-directed medical therapy in patients with severely symptomatic heart failure who have an unstable hemodynamic status and for which volume management cannot be satisfactorily achieved with diuretics.
peritoneal dialysis ; heart failure ; congenital heart disease ; congenitally corrected transposition of the great arteries ; diuresis ; ultrafiltration

OBJECTIVES: To study the association of maternal methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and methylenetetrahydrofolate dehydrogenase 2 (MTHFD2) gene polymorphisms with congenital heart disease (CHD) in offspring. METHODS: A hospital-based case-control study was conducted. The mothers of 683 children with CHD alone who attended Hunan Children's Hospital, from November 2017 to March 2020 were enrolled as the case group, and the mothers of 740 healthy children who attended the same hospital during the same period and did not have any deformity were enrolled as the control group. A questionnaire survey was performed to collect related exposure data, and then venous blood samples (5 mL) were collected from the mothers to detect MTHFD1 and MTHFD2 gene polymorphisms. A multivariate logistic regression analysis was used to evaluate the association of MTHFD1 and MTHFD2 gene polymorphisms with CHD. The four-gamete test in Haploview 4.2 software was used to construct haplotypes and evaluate the association between haplotypes and CHD. The generalized multifactor dimensionality reduction method and logistic regression analysis were used to examine gene-gene interaction and its association with CHD. RESULTS: The multivariate logistic regression analysis showed that maternal MTHFD1 gene polymorphisms at rs11849530 (GA vs AA: OR=1.49; GG vs AA: OR=2.04) andat rs1256142 (GA vs GG: OR=2.34; AA vs GG: OR=3.25) significantly increased the risk of CHD in offspring (P<0.05), while maternal MTHFD1 gene polymorphisms at rs1950902 (AA vs GG: OR=0.57) and MTHFD2 gene polymorphisms at rs1095966 (CA vs CC: OR=0.68) significantly reduced the risk of CHD in offspring (P<0.05). The haplotypes of G-G-G (OR=1.86) and G-A-G (OR=1.35) in mothers significantly increased the risk of CHD in offspring (P<0.05). The gene-gene interaction analyses showed that the first-order interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and the second-order interaction involving MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966 might be associated with risk of CHD (P<0.05). CONCLUSIONS Maternal MTHFD1 and MTHFD2 gene polymorphisms and their haplotypes, as well as the interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and between MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966, are associated with the risk of CHD in offspring.
Aminohydrolases/genetics* ; Case-Control Studies ; Child ; Female ; Genetic Predisposition to Disease ; Heart Defects, Congenital/genetics* ; Humans ; Methylenetetrahydrofolate Dehydrogenase (NADP)/genetics* ; Minor Histocompatibility Antigens/genetics* ; Mothers ; Multifunctional Enzymes/genetics* ; Polymorphism, Single Nucleotide ; Risk Factors

OBJECTIVE: To study the association between maternal reduced folate carrier ( METHODS: A hospital-based case-control study was conducted. The mothers of 683 infants with CHD who attended the Department of Cardiothoracic Surgery, Hunan Children's Hospital, from November 2017 to March 2020 were enrolled as the case group. The mothers of 740 healthy infants without any deformity who attended the hospital during the same period of time were enrolled as the control group. A questionnaire survey was performed to collect the exposure data of subjects. Venous blood samples of 5 mL were collected from the mothers for genetic polymorphism detection. A multivariate logistic regression analysis was used to evaluate the association of RESULTS: After control for confounding factors, the multivariate logistic regression analysis showed that maternal CONCLUSIONS Maternal
Case-Control Studies ; Child ; Female ; Genetic Predisposition to Disease ; Genotype ; Heart Defects, Congenital/genetics* ; Humans ; Infant ; Polymorphism, Single Nucleotide ; Reduced Folate Carrier Protein/genetics* ; Risk Factors

Objective Many physiological and pathological conditions, including cyanotic congenital heart diseases (CCHD), are accompanied by chronic hypoxia, which might interfere with the transcription process. However, the transcriptome profile in peripheral blood under hypoxia is still unidentified. The present work aimed to explore the transcriptional profile alteration of peripheral blood in chronic hypoxia. Methods The present study used a chronic hypoxia rat model to simulate the hypoxic state of CCHD patients. Two groups of Sprague-Dawley rats (n=6 per group) were either exposed to hypoxia (10% O₂) or normoxia (21% O₂) for 3 weeks. Body weight was measured weekly. Peripheral blood was collected and total RNA was extracted for RNA-Seq at the end of the hypoxia treatment. After quality assessment, the library was sequenced by the Illumina Hiseq platform. The differentially expressed genes were screened (false discovery rate<0.05 and fold change>2). The functional annotation analysis and cluster analysis of differentially expressed genes were performed based on the adjusted P-value (padj<0.05). Results Compared with the control group, the body weight of the rats in the hypoxia group was significantly lowered (P<0.01). RNA-Seq results showed that the transcriptome patterns of the two groups had significant differences. In total, 872 genes were identified as differentially expressed. Among all, 803 genes were down-regulated, while only 69 genes were up-regulated in the hypoxia group. The functional enrichment analysis of the 872 genes showed that multiple biological processes involved, such as porphyrin-containing compound metabolic process, hemoglobin complex and oxygen transporter activity. Conclusions Our study demonstrated the transcriptional profile alteration in peripheral blood of chronic hypoxia rat model. This study provided basic data and directions to further understand the physiological and pathological changes in patients with CCHD.
Animals ; Chronic Disease ; Cluster Analysis ; Disease Models, Animal ; Gene Expression Profiling/methods* ; Gene Ontology ; Gene Regulatory Networks ; Heart Defects, Congenital/genetics* ; Humans ; Hypoxia/genetics* ; Protein Interaction Maps/genetics* ; Rats, Sprague-Dawley

In adult congenital heart disease (ACHD), residua and sequellae after initial repair develop late complications such as cardiac failure, arrhythmias, thrombosis, aortopathy, pulmonary hypertension and others. Acquired lesions with aging such as hypertension, diabetes mellitus, obesity can be negative influence on original cardiovascular disease (CVD). Also, atherosclerosis may pose an additional health problem to ACHD when they grow older and reach the age at which atherosclerosis becomes clinically relevant. In spite of the theoretical risk of atherosclerosis in ACHD due to above mentioned factors, cyanotic ACHDs even after repair are noted to have minimal incidence of coronary artery disease (CAD). Acyanotic ACHD has similar prevalence of CAD as the general population. However, even in cyanotic ACHD, CAD can develop when they have several risk factors for CAD. The prevalence of risk factor is similar between ACHD and the general population. Risk of premature atherosclerotic CVD in ACHD is based, 3 principal mechanisms: lesions with coronary artery abnormalities, obstructive lesions of left ventricle and aorta such as coarctation of the aorta and aortopathy. Coronary artery abnormalities are directly affected or altered surgically, such as arterial switch in transposition patients, may confer greater risk for premature atherosclerotic CAD. Metabolic syndrome is more common among ACHD than in the general population, and possibly increases the incidence of atherosclerotic CAD even in ACHD in future. Thus, ACHD should be screened for metabolic syndrome and eliminating risk factors for atherosclerotic CAD.
Adult ; Aging ; Aorta ; Aortic Coarctation ; Arrhythmias, Cardiac ; Atherosclerosis ; Cardiovascular Diseases ; Coronary Artery Disease ; Coronary Vessels ; Diabetes Mellitus ; Heart Defects, Congenital ; Heart Failure ; Heart Ventricles ; Humans ; Hypertension ; Hypertension, Pulmonary ; Incidence ; Obesity ; Prevalence ; Risk Factors ; Thrombosis