BACKGROUND

Persistent left superior vena cava (PLSVC) is a rare but clinically relevant congenital vascular anomaly, occurring in 0.3% of the general population and up to 4.3% in those with congenital heart disease. It is usually asymptomatic and incidentally discovered during imaging, catheterization, or surgery.

We present the case of a 38-year-old hypertensive female who was evaluated for acute chest discomfort, palpitations and near-syncope. Transthoracic echocardiography revealed a dilated coronary sinus, prompting a contrast echocardiography study that demonstrated early opacification of the coronary sinus upon left arm injection confirming the diagnosis of PLSVC.

This case underscores the importance of recognizing coronary sinus dilatation as a potential marker of venous anomalies such as PLSVC. Contrast echocardiography with bilateral injections remains a practical, non-invasive tool in its diagnosis, with significant implications for future invasive procedures.

BACKGROUND

Cyanotic congenital heart disease (CHD) accounts for 20% of all cardiac malformations with an estimated incidence of 2.5–3 per 1,000 live births. An increasing number of patients now survive into adolescence, with or without intervention, forming a unique group requiring specialized care.

To determine factors influencing survival among adolescents with unrepaired cyanotic CHD.

This single-center case-control study was conducted from 2017 to 2022 in a specialized tertiary center in the Philippines. Sample size was based on a 2.6% total fatality rate among infants who underwent CHD operations. Binary logistic regression was used to identify significant predictors of survival, with pRESULTS

Among 125 subjects, 58% (72/125) were males with a median age of 16 years. The median age at diagnosis was 1 year and 1 month; 73% resided outside Metro Manila. Most patients were New York Heart Association (NYHA) Class I (49%), with Tetralogy of Fallot as the most common diagnosis (52%) and 26% had palliative procedures. Predictors of survival included place of origin (OR 0.38, 95% CI 0.15–0.95, p = 0.039), oxygen saturation (OR 1.12, 95% CI 1.06–1.17, pCONCLUSION

Optimizing oxygenation, improving access to care and strengthening targeted interventions are crucial for enhancing survival among adolescents with unrepaired cyanotic CHD.

BACKGROUND

Cyanotic congenital heart disease (CHD) accounts for 20% of all cardiac malformations with an estimated incidence of 2.5–3 per 1,000 live births. An increasing number of patients now survive into adolescence, with or without intervention, forming a unique group requiring specialized care.

To determine factors influencing survival among adolescents with unrepaired cyanotic CHD.

This single-center case-control study was conducted from 2017 to 2022 in a specialized tertiary center in the Philippines. Sample size was based on a 2.6% total fatality rate among infants who underwent CHD operations. Binary logistic regression was used to identify significant predictors of survival, with pRESULTS

Among 125 subjects, 58% (72/125) were males with a median age of 16 years. The median age at diagnosis was 1 year and 1 month; 73% resided outside Metro Manila. Most patients were New York Heart Association (NYHA) Class I (49%), with Tetralogy of Fallot as the most common diagnosis (52%) and 26% had palliative procedures. Predictors of survival included place of origin (OR 0.38, 95% CI 0.15–0.95, p = 0.039), oxygen saturation (OR 1.12, 95% CI 1.06–1.17, pCONCLUSION

Optimizing oxygenation, improving access to care and strengthening targeted interventions are crucial for enhancing survival among adolescents with unrepaired cyanotic CHD.

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.

OBJECTIVE: To explore the genetic characteristics of a fetus affected with Structural heart defects and renal anomalies syndrome (SHDRA). METHODS: A pedigree with SHDRA (fetus and the parents) who had visited the Affiliated Women and Children's Hospital of Ningbo University in April 2023 was selected as the study subject. Clinical data of the family were collected. A total of 10 mL of amniotic fluid cells from the fetus and 5 mL of peripheral blood samples from the parents were collected for genomic DNA extraction. Trio whole-exome sequencing (Trio-WES) was performed, and Sanger sequencing was used to validate candidate variants in the family. The identified variants were classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines). Relevant research literature on SHDRA in domestic and international databases were searched for literature review. This study was approved by the Affiliated Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094). RESULTS: In this family, prenatal ultrasound at 18 weeks of gestation revealed left renal multicystic dysplasia in the fetus. After birth, the infant exhibited an ostium secundum atrial septal defect, patent ductus arteriosus, and left renal multicystic dysplasia. Trio-WES revealed that the fetus had carried c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) compound heterozygous variants in the TMEM260 gene, which were respectively inherited from its father and mother. According to the ACMG guidelines, the c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants were classified as pathogenic (PM2_Supporting+PVS1+PP4) and likely pathogenic (PM2_Supporting+PM4+PM3+PP4), respectively. According to the literature search strategy set for this study, a total of 6 literature was retrieved, involving 25 SHDRA patients from 20 families. Together with the patients in this study, there were 14 TMEM260 gene variants, most of which were frameshift variants (7 types) and had located in exons 3, 11 and 13. The main clinical features of SHDRA were congenital heart malformation, renal abnormality and neurodevelopmental abnormality, and there was a lack of genotype-phenotype correlation. CONCLUSION The c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants of the TMEM260 gene probably underlay the SHDRA in this family. Above finding has provided a basis for clinical diagnosis and genetic counseling for the family.
Humans ; Female ; Pedigree ; Membrane Proteins/genetics* ; Male ; Heart Defects, Congenital/genetics* ; Kidney/abnormalities* ; Pregnancy ; Adult ; Kidney Diseases/congenital* ; Exome Sequencing ; Mutation ; Genetic Testing

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX). METHODS: A pedigree presented at the First Hospital of Lanzhou University for CVDPX combined with CIIX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15). RESULTS: Both the proband and his affected younger brother were found to harbor a hemizygous c.443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded in the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+PS4+PP2+PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. CONCLUSION This study confirmed the diagnosis of CVDPX/CIIX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.
Adult ; Female ; Humans ; Male ; Exome Sequencing ; Filamins/genetics* ; Genetic Diseases, X-Linked/genetics* ; Heart Defects, Congenital/genetics* ; Heart Valve Diseases/genetics* ; Pedigree ; East Asian People/genetics*

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*

BACKGROUND: Congenital heart disease (CHD) is a leading cause of birth defect-related mortality. However, more recent CHD mortality data for China are lacking. Additionally, limited studies have evaluated sex, rural-urban, and region-specific disparities of CHD mortality in China. METHODS: We designed a population-based study using data from the Dataset of National Mortality Surveillance in China between 2008 and 2021. We calculated age-adjusted CHD mortality using the sixth census data of China in 2010 as the standard population. We assessed the temporal trends in CHD mortality by age, sex, area, and region from 2008 to 2021 using the joinpoint regression model. RESULTS: From 2008 to 2021, 33,534 deaths were attributed to CHD. The period witnessed a two-fold decrease in the age-adjusted CHD mortality from 1.61 to 0.76 per 100,000 persons (average annual percent change [AAPC] = -5.90%). Females tended to have lower age-adjusted CHD mortality than males, but with a similar decline rate from 2008 to 2021 (females: AAPC = -6.15%; males: AAPC = -5.84%). Similar AAPC values were observed among people living in urban (AAPC = -6.64%) and rural (AAPC = -6.12%) areas. Eastern regions experienced a more pronounced decrease in the age-adjusted CHD mortality (AAPC = -7.86%) than central (AAPC = -5.83%) and western regions (AAPC = -3.71%) between 2008 and 2021. Approximately half of the deaths (46.19%) due to CHD occurred during infancy. The CHD mortality rates in 2021 were lower than those in 2008 for people aged 0-39 years, with the largest decrease observed among children aged 1-4 years (AAPC = -8.26%), followed by infants (AAPC = -7.01%). CONCLUSIONS CHD mortality in China has dramatically decreased from 2008 to 2021. The slower decrease in CHD mortality in the central and western regions than in the eastern regions suggested that public health policymakers should pay more attention to health resources and health education for central and western regions.
Humans ; Heart Defects, Congenital/mortality* ; Male ; Female ; China/epidemiology* ; Infant ; Child, Preschool ; Adult ; Child ; Adolescent ; Infant, Newborn ; Middle Aged ; Young Adult ; Aged ; Rural Population

Humans ; Heart Defects, Congenital/diagnosis* ; Genetic Testing/standards* ; Child ; Consensus ; China

Humans ; Heart Defects, Congenital/therapy* ; Child ; Evidence-Based Medicine ; Cardiac Surgical Procedures/methods* ; Cardiac Catheterization/methods*