BACKGROUND AND OBJECTIVE

Mothers play a significant role as primary caregivers for children with congenital heart disease (CHD) within the family. Given the complex health needs of children with CHD, coping strategies are needed to deal with the challenges associated with caring for their children with the condition. Coping mechanisms encompass fostering resilience, seeking support, and maintaining a positive outlook to navigate stress, uncertainty, and obstacles throughout their child's medical journey with CHD. The objective of this study is to explore the coping strategies employed by mothers of children diagnosed with CHD in a tertiary hospital in the Philippines.

Employing a descriptive qualitative study design, data was gathered through key informant interviews utilizing a semi-structured topic guide, which aimed to explore the perspectives and experiences of mothers with children with CHDs. Ethical approval was obtained, and data collection occurred from January to March 2016. Interview transcripts were recorded, transcribed verbatim, and underwent content analysis. Themes derived from the analysis were then validated and confirmed by the study participants.

A total of 11 mothers voluntarily participated in the study. These participants expressed utilizing various coping strategies to manage their child's condition, including seeking assistance from both physicians and traditional healers, advocating for their children, receiving support from their family and friends, regulation of emotion, and prayer and faith in God.

This study sheds light on the coping mechanisms used by mothers in raising thier children with CHD, highlighting the value of spirituality and psychological support in their journey. Enhancing assistance for impacted families and advancing genetic counseling services are two benefits of incorporating these findings into healthcare practice.

Background and Objective: Mothers play a significant role as primary caregivers for children with congenital heart disease (CHD) within the family. Given the complex health needs of children with CHD, coping strategies are needed to deal with the challenges associated with caring for their children with the condition. Coping mechanisms encompass fostering resilience, seeking support, and maintaining a positive outlook to navigate stress, uncertainty, and obstacles throughout their child's medical journey with CHD. The objective of this study is to explore the coping strategies employed by mothers of children diagnosed with CHD in a tertiary hospital in the Philippines. Methods: Employing a descriptive qualitative study design, data was gathered through key informant interviews utilizing a semi-structured topic guide, which aimed to explore the perspectives and experiences of mothers with children with CHDs. Ethical approval was obtained, and data collection occurred from January to March 2016. Interview transcripts were recorded, transcribed verbatim, and underwent content analysis. Themes derived from the analysis were then validated and confirmed by the study participants. Results: A total of 11 mothers voluntarily participated in the study. These participants expressed utilizing various coping strategies to manage their child's condition, including seeking assistance from both physicians and traditional healers, advocating for their children, receiving support from their family and friends, regulation of emotion, and prayer and faith in God. Conclusion This study sheds light on the coping mechanisms used by mothers in raising thier children with CHD, highlighting the value of spirituality and psychological support in their journey. Enhancing assistance for impacted families and advancing genetic counseling services are two benefits of incorporating these findings into healthcare practice.
Heart Defects, Congenital ; Coping Skills

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

OBJECTIVE: To explore the prevalence and clinical manifestations of ring chromosomes among children featuring abnormal development. METHODS: From January 2015 to August 2021, 7574 children referred for abnormal development were selected, and their peripheral blood samples were subjected to G-banded chromosomal karyotyping analysis. RESULTS: Twelve cases of ring chromosomes were detected, which have yielded a prevalence of 0.16% and included 1 r(6), 2 r(9), 1 r(13), 1 r(14), 2 r(15), 1 r(21) and 3 r(X). The children had various clinical manifestations including growth and mental retardation, limb malformation, and congenital heart disease. For two children with r(9) and two with r(15) with similar breakpoints, one child with r(9) and one with r(15) only had growth retardation, whilst another with r(9) and another with r(15) also had peculiar facies and complex congenital heart disease. The r(X) has featured some manifestations of Turner syndrome. CONCLUSION Ring chromosomes are among the common causes for severe growth and mental retardation in children with diverse clinical phenotypes. Clinicians should pay attention to those with developmental anomalies and use chromosomal analysis to elucidate their genetic etiology.
Humans ; Ring Chromosomes ; Intellectual Disability/genetics* ; Turner Syndrome/genetics* ; Phenotype ; Heart Defects, Congenital/genetics*

A full-term female infant was admitted at 5 hours after birth due to heart malformations found during the fetal period and cyanosis once after birth. Mmultiple malformations of eyes, face, limbs, and heart were noted. The whole-exome sequencing revealed a pathogenic heterozygous mutation, c.2428C>T(p.Arg810^*), in the BCOR gene. The infant was then diagnosed with oculo-facio-cardio-dental syndrome. He received assisted ventilation to improve oxygenation and nutritional support during hospitalization. Right ventricular double outlet correction was performed 1 month after birth. Ocular lesions were followed up and scheduled for elective surgery. The possibility of oculo-facio-cardio-dental syndrome should be considered for neonates with multiple malformations of eyes, face, and heart, and genetic testing should be performed as early as possible to confirm the diagnosis; meanwhile, active ophthalmic and cardiovascular symptomatic treatment should be given to improve the prognosis.
Female ; Humans ; Infant ; Infant, Newborn ; Male ; Abnormalities, Multiple/therapy* ; Cataract/genetics* ; Cyanosis ; Proto-Oncogene Proteins ; Repressor Proteins/genetics* ; Heart Defects, Congenital/genetics*

BACKGROUND: Congenital heart disease (CHD) is one of the most common congenital malformations in humans. Inconsistent results emerged in the existed studies on associations between air pollution and congenital heart disease. The purpose of this study was to evaluate the association of gestational exposure to air pollutants with congenital heart disease, and to explore the critical exposure windows for congenital heart disease. METHODS: The nested case-control study collected birth records and the following health data in Tianjin Women and Children's Health Center, China. All of the cases of congenital heart disease from 2013 to 2015 were selected matching five healthy controls for each case. Inverse distance weighting was used to estimate individual exposure based on daily air pollution data. Furthermore, the conditional logistic regression with distributed lag non-linear model was performed to identify the association between gestational exposure to air pollution and congenital heart disease. RESULTS: A total of 8,748 mother-infant pairs were entered into the analysis, of which 1,458 infants suffered from congenital heart disease. For each 10 µg/m³ increase of gestational exposure to PM_2.5, the ORs (95% confidence interval, 95%CI) ranged from 1.008 (1.001-1.016) to 1.013 (1.001-1.024) during the 1^st-2^nd gestation weeks. Similar weak but increased risks of congenital heart disease were associated with O₃ exposure during the 1^st week and SO₂ exposure during 6^th-7^th weeks in the first trimester, while no significant findings for other air pollutants. CONCLUSIONS This study highlighted that gestational exposure to PM_2.5, O₃, and SO₂ had lag effects on congenital heart disease. Our results support potential benefits for pregnancy women to the mitigation of air pollution exposure in the early stage, especially when a critical exposure time window of air pollutants may precede heart development.
Infant ; Pregnancy ; Child ; Humans ; Female ; Air Pollutants/analysis* ; Case-Control Studies ; Prenatal Exposure Delayed Effects/epidemiology* ; Heart Defects, Congenital/etiology* ; China/epidemiology* ; Particulate Matter/adverse effects* ; Maternal Exposure/adverse effects*

BACKGROUND: Few prospective studies have investigated the association between paternal occupational exposures and risk of infant congenital heart defects (CHDs). We investigated the associations between paternal occupational exposures, frequency of use, and concurrent or sequential exposure to a mixture of compounds and the risk of infant CHDs. METHODS: Our study examined 28,866 participants in the Japan Environment and Children's Study. Logistic regression analysis was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) associated with paternal occupational exposures during the 3 months until pregnancy was noticed after adjustment for potential confounding factors of the infant CHDs. CHD diagnosis was ascertained from medical record. RESULTS: In total, 175 were diagnosed with infant CHDs. The number of fathers who were exposed to the following substances at least once a month were: 11,533 for photo copying machine/laser printer, 10,326 for permanent marker, 8,226 for soluble paint/inkjet printer, 6,188 for kerosene/petroleum/benzene/gasoline, 4,173 for organic solvents, 3,433 for chlorine bleach/germicide, 2,962 for engine oil, 2,931 for insecticide, 2,460 for medical sterilizing disinfectant, 1,786 for welding fumes, 1,614 for dyestuffs, 1,247 for any products containing lead-like solder, 986 for herbicide, 919 for radiation/radioactive substances/isotopes, 837 for lead-free solder, 341 for microbes, 319 for formalin/formaldehyde, 301 for agricultural chemical not listed above or unidentified, 196 for general anesthetic for surgery at hospital, 171 for anti-cancer drug, 147 for chromium/arsenic/cadmium, 88 for mercury and 833 for other chemical substances. Paternal occupational exposure regularly to photo copying machine or laser printer and soluble paint/inkjet printer were associated with higher risks of infant CHDs: the adjusted ORs (95%CIs) were 1.38 (1.00-1.91) and 1.60 (1.08-2.37), respectively. The higher risks were also observed for occasional exposure to engine oil, any products containing lead-like solder lead-free solder, and microbes; the adjusted ORs (95%CIs) were 1.68 (1.02-2.77), 2.03 (1.06-3.88), 3.45 (1.85-6.43), and 4.51, (1.63-12.49), respectively. CONCLUSIONS Periconceptional paternal occupational exposure was associated with a higher risk of infant CHDs. Further studies using biomarkers of the association between paternal occupational exposure and infant CHDs are warranted.
Male ; Humans ; Infant ; Child ; Japan/epidemiology* ; Prospective Studies ; Risk Factors ; Case-Control Studies ; Occupational Exposure/adverse effects* ; Heart Defects, Congenital/epidemiology* ; Fathers

Objective: To explore the current situation of fetal heart defects in Yunnan Province and surrounding high altitude areas and the social factors affecting pregnancy outcome. Methods: This is a retrospective study. Pregnant woman who underwent fetal echocardiography and diagnosed as fetal cardiac defects in Yunnan Fuwai Cardiovascular Hospital from June 2017 to January 2021 were included. According to the clinical prognostic risk scoring system and grading criteria of fetal cardiac birth defects, the cases were divided into grade Ⅰ to Ⅳ. The disease distribution and proportion of each prognostic grade, pregnancy outcomes were analyzed and compared. The cases were divided into continued pregnancy group and terminated pregnancy group according to pregnancy outcome. The social factors that may affect the selection of pregnancy outcomes were analyzed by multivariate logistic regression analysis. Results: A total of 4 929 fetal echocardiography examination data were collected, and 4 464 cases (90.57%) were from Yunnan Province and surrounding high altitude areas. 2 166 cases of heart defects were finally analyzed, including 998 cases of congenital heart disease (CHD), 93 cases of cardiac tumors, cardiomyopathy and arrhythmia, 1 075 cases of foramen ovale, ductus arteriosus abnormalities and normal variations. The pregnant women were (29.2±5.0) years old with (25.6±3.8) gestational weeks. The number of cases with prognostic grade from Ⅰ to Ⅳ was 1 037 (47.88%), 620 (28.62%), 314 (14.50%), and 44 (2.03%), respectively. And 151 cases (6.97%) were not classified. The cases of normal variation and thin aortic arch development accounted for 42.66% (924/2 166), 5.22% (113/2 166), respectively. The top 3 diseases of grade Ⅱ were ventricular septal defect, coarctation of aorta and mild-moderate pulmonary stenosis, respectively, and their distribution was 11.63% (252/2 166), 3.92% (85/2 166) and 2.35% (51/2 166) respectively in all cases of heart defects, and 25.25% (252/998), 8.52% (85/998) and 5.11% (51/998) respectively in cases of CHD. Among the cases rated as grade Ⅲ and Ⅳ, most of them were complicated congenital heart disease, and the disease types are scattered. The more common cases in grade Ⅲ were complete transposition of great arteries (accounting for 2.40% (52/2 166) of all cases with heart defects, 5.21% (52/998) of all cases with CHD) and pulmonary artery occlusion (type Ⅰ to Ⅲ) with ventricular septal defect (accounting for 2.17% (47/2 166) of all cases with heart defects, and 4.71% (47/998) of all cases with CHD). In grade Ⅳ, single ventricle (0.74% (16/2 166) of all cases with heart defects, 1.60% (16/998) of all cases with CHD) and left ventricular dysplasia syndrome (0.65% (14/2 166) of all cases with heart defects, 1.40% (14/998) of all cases with CHD) are more common. A total of 1 084 cases were successfully followed up, and 675 cases were born, 392 cases were terminated, spontaneous abortion occurred in 17 cases. The proportion of terminated pregnancy cases was significantly increased from grade Ⅰ to Ⅳ, accounting for 5.24% (21/401), 27.78% (70/252), 89.54% (214/239) and 95.56% (43/45), respectively. Among the terminated pregnancy cases, those with grade Ⅲ accounted for the highest proportion (54.59% (214/392)). The distribution of terminated pregnancy cases was mainly complex congenital malformations or diseases with very poor prognosis (pregnancy outcome grade Ⅲ and Ⅳ), and proportion of terminated pregnancy with pregnancy outcome grade Ⅰ and Ⅱ cases (normal variation or good prognosis) accounted for 5.36% (21/392) and 17.86% (70/392), respectively. The results of multivariate logistic regression analysis showed that pregnant women with low education (high school and below: OR=2.73, 95%CI 1.26-5.93, P<0.001; illiteracy: OR=3.27, 95%CI 1.29-7.10, P<0.001) and low family income (Annual income<100 000 yuan: OR=2.47, 95%CI 1.69-5.12, P<0.001) were more likely to choose termination of pregnancy in case of fetal heart defect. Conclusion: In Yunnan province and the surrounding high altitude areas, the disease distribution of fetal heart defect is mainly simple or low-risk disease, but the complex malformation, especially the disease with poor pregnancy outcome, accounts for a relative high proportion. Pregnancy termination also occurs in some cases with good pregnancy outcome. The education level and family income of pregnant women may affect their choice of pregnancy outcome in case of fetal heart defect.
Pregnancy ; Female ; Humans ; Young Adult ; Adult ; Retrospective Studies ; Altitude ; China/epidemiology* ; Heart Defects, Congenital/diagnostic imaging* ; Heart Septal Defects, Ventricular ; Echocardiography ; Fetal Heart/diagnostic imaging*

Objective: To investigate the relationship between the levels of selenium, iron and copper in cord blood of neonates and the risk of congenital heart disease (CHD), and analyze their interaction effects. Methods: The subjects were obtained from the birth cohort in Lanzhou area established from 2010 to 2012. A baseline survey was conducted in the first trimester, and the follow-up was conducted in the second trimester, third trimester and 42 days after delivery. The umbilical vein blood was collected from newborns at delivery, and information on their birth outcomes was extracted from medical records. A nested case-control study was used to select 97 neonates with CHD newly diagnosed by echocardiography as the case group, and 194 neonates were selected as the control group by 1∶2 matching according to their mother's age, block and CHD onset time. Inductively coupled ion mass spectrometry was used to detect the concentrations of selenium, iron and copper in neonatal cord blood. The element exposure was categorized into three groups, the low, medium and high concentrations, according to the quartiles Q₁ and Q₃ of selenium, iron and copper concentrations in the control group. The association between cord blood selenium, iron and copper concentrations and CHD was analyzed by conditional logistic regression model using medium concentration as the reference standard. The association of their interactions with CHD was analyzed by a phase multiplication model. Results: The M (Q₁, Q₃) concentration of neonatal cord blood copper was 746.12 (467.48, 759.74) μg/L in the case group and 535.69 (425.21, 587.79) μg/L in the control group, with a statistically significant difference between the two groups (P<0.05). After adjustment for confounders, logistic regression models showed that the risk of CHD development was increased in neonates with either high copper in cord blood (OR=4.062, 95%CI: 2.013-8.199) or high copper combined with high iron (OR=3.226, 95%CI: 1.343-7.750). No correlation was observed between selenium and iron concentrations and the development of CHD in neonates. There was a multiplicative interaction between copper and iron in cord blood on the risk of developing CHD (OR=1.303, 95%CI: 1.056-1.608). Conclusion: There is a multiplicative interaction between iron and copper elements. The high copper and the high copper combined with high iron in umbilical cord blood are risk factors for neonatal CHD.
Humans ; Infant, Newborn ; Copper/analysis* ; Selenium ; Iron/analysis* ; Fetal Blood/chemistry* ; Case-Control Studies ; Heart Defects, Congenital

Humans ; Heart Defects, Congenital/prevention & control*