Mild Congenital Heart Defects Research Articles

Cancer mortality in children surviving congenital heart interventions: A study from the Pediatric Cardiac Care Consortium.

Children with congenital heart defects (CHD) have shorter life expectancy than the general population. Previous studies also suggest that patients with CHD have higher risk of cancer. This study aims to describe cancer-related mortality among patients with a history of CHD interventions using the Pediatric Cardiac Care Consortium (PCCC), a large US cohort of such patients. We performed a retrospective cohort study of individuals (<21years) who underwent interventions for CHD in the PCCC from 1982 to 2003. Patients surviving their first intervention were linked to the National Death Index through 2020. Multivariable models assessed risk of cancer-related death, adjusting for age, sex, race, and ethnicity. Patients with/without genetic abnormalities (mostly Down syndrome [DS]) were considered separately, due to expected differential risk in cancer. Among the 57,601 eligible patients in this study, cancer was the underlying or contributing cause of death for 208; with 20% among those with DS. Significantly increased risk of cancer-related death was apparent among patients with DS compared to the non-genetic group (aHR: 3.63, 95% confidence interval [CI]: 2.52-5.24, p<.001). For the group with non-genetic abnormalities, the highest association with cancer-related death compared to those with mild CHD was found among those with more severe CHD (severe two-ventricle aHR: 1.82, 95% CI: 1.04-3.20, p=.036, single-ventricle aHR: 4.68, 95% CI: 2.77-7.91, p<.001). Patients with more severe forms of CHD are at increased risk for cancer-related death. Despite our findings, we are unable to distinguish whether having CHD raises the risk of cancer or reduces survival.

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

Congenital heart defects occur in approximately 50% of children with Down syndrome and they contribute considerably to morbidity and mortality. The aim of this study is to investigate the prevalence, classification, and survival of congenital heart defects in Down syndrome. About 1731 Down syndrome patients who underwent echocardiography between 1986 and 2022 were evaluated. The median follow-up duration was 8.7 years (range 1-35.8 years). Congenital heart defect was grouped as cyanotic and acyanotic. Among the 1731 patients, 52.1% had congenital heart defects. Congenital heart defect was significantly more common in females than males. The most common cardiac defect was ventricular septal defect (35%), followed by atrial septal defect (31.8%), atrioventricular septal defect (23.4%), tetralogy of Fallot (5%), and patent ductus arteriosus (3.6%). In the follow-up, 43.2% of atrial septal defect, 17.8% of ventricular septal defect, and a total of 20% of congenital heart defects were closed spontaneously. About 34.4% of congenital heart defect was corrected by cardiac surgery/intervention. Five-year survival rate was 97.4% in patients without congenital heart defects, whereas it was 95.6% in mild congenital heart defects and 86.1% in moderate to severe congenital heart defects. There was no relationship between consanguinity, parental age, maternal disease, folic acid supplementation before/during pregnancy, gestational age, birth weight, and congenital heart defects. Neuromotor development was similar in patients with and without congenital heart defects. We demonstrated that almost half of the patients had congenital heart defects; ventricular septal defect was the most common congenital heart defect type. This study is valuable in terms of the largest single-center study describing the classification, prognostic factors, and survival of Down syndrome patients with congenital heart defect from Turkey.

Predictors of Developing Heart Failure in Adults with Congenital Heart Defects.

The population of adults with congenital heart defects (ACHD) is growing. The leading cause of premature death in these patients is heart failure (HF). However, there is still limited information on the predictive factors for HF in ACHD patients. This study re-examined a group of patients with repaired or palliated congenital heart defects (CHD) that were initially studied in 2003. A follow-up period of 15 years has allowed us to identify and evaluate predictors for the development of HF in ACHD. All patients with repaired or palliated CHD who participated in the initial study (n = 364) were invited for a follow-up examination. The effects of maximum oxygen uptake ( ) during exercise stress testing, the cardiac biomarker N-terminal pro brain natriuretic peptide (NT-proBNP), and QRS complex on the development of HF during the follow-up period were investigated. From May 2017 to April 2019, 249 of the initial 364 (68%) patients participated in the follow-up study. Of these, 21% were found to have mild CHD, 60% had moderate CHD, and 19% had complex CHD. Significant predictors for the development of HF were: NT-proBNP level 1.7 times the upper normal limit, 73% of predicted values, and QRS complex duration 120 ms. Combination of these three parameters resulted in the highest area-under-the-curve of 0.75, with a sensitivity of 75% and specificity of 63% for predicting the development of HF. In this cohort of ACHD patients, the combination of , NT-proBNP, and QRS duration was predictive of HF development over a 15-year follow-up period. Enhanced surveillance of these parameters in patients with ACHD may be beneficial for the prevention of HF and early intervention.

Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study.

Evidence on the direction and strength of association between maternal age and the prevalence of congenital heart defects (CHD) in different age group categories is conflicting. Some studies have illustrated different trends with an increase in prevalence in younger and older age groups while other studies have reported a linear relationship. Given the increase in maternal age over recent years, it is important to study the CHD prevalence by maternal age. To examine the association between maternal age and the prevalence of CHD in Europe between 1995 and 2015 using population-based data from 24 registries belonging to the European Surveillance of Congenital Anomalies (EUROCAT) network. Associations over time of all nonsyndromic CHD according to maternal age category and for three CHD severity groupings (severity group I: very severe; severity group II: severe; severity group III: less severe) were examined using Bayesian multilevel Poisson regression modeling. Further subgroup analyses were undertaken within four maternal age-bands: ≤24, 25-29, 30-34 and 35-44 years. Descriptive summaries are also presented. There were 51,608 nonsyndromic CHD cases in Europe over the 20-year study period. Total prevalence for all CHD combined was increased for younger mothers (≤24 years) and for mothers 35-44 years of age when compared with mothers aged 25-29 years (reference group) (IRR: 1.05, 95% CI: 1.02, 1.07). The total prevalence was increased for severity group I (very severe) only for younger mothers compared to those aged 25-29 years (IRR: 1.14, 95% CI: 1.04, 1.23). We found an increased prevalence of the following CHD subtypes: double outlet right ventricle (IRR:1.33, 95% CI: 1.09, 1.60), hypoplastic left heart syndrome (IRR: 1.18, 95% CI: 1.05, 1.32), hypoplastic right heart syndrome (IRR: 1.41, 95% CI: 1.05, 1.84), atrioventricular septal defect (IRR: 1.15, 95% CI: 1.01, 1.32), coarctation of aorta (IRR: 1.15, 95% CI: 1.03, 1.28) and atrial septal defect (IRR: 1.08, 95% CI: 1.02, 1.13). For older mothers (35-44 years) compared to the reference category, we observed an increased risk in the prevalence for severity group II (IRR: 1.09, 95% CI: 1.03, 1.14), severity group III (IRR: 1.05, 95% CI: 1.01, 1.08) and an increased prevalence of the CHD subtypes: Pulmonary valve stenosis (IRR: 1.22, 95% CI: 1.09, 1.34), ASD (IRR: 1.07, 95% CI: 1.02, 1.13), CoA (IRR: 1.18, 95% CI: 1.06, 1.32) and Tetralogy of Fallot (IRR: 1.14, 95% CI: 1.01, 1.28). Finally, for all age categories compared to the reference category, different associations of ASD and an increased prevalence of CoA was also observed. Based on data for cases of CHD from 24 European population-based registries, evidence of a positive association between maternal age and the total prevalence of CHD for younger (≤24 years old) and older (35-44 years old) mothers was observed. The results suggest that young maternal age (≤24 years old) is a factor associated with severe CHD phenotypes while a positive association between advanced maternal age (35-44 years old) and mild CHD phenotypes was observed.

Functional characterization of GATA6 genetic variants associated with mild congenital heart defects

Damaging GATA6 variants can cause moderate congenital heart defects. With the application of next-generation sequencing approaches, various novel GATA6 variants with unknown significance have been identified from a broad spectrum of congenital heart defects. However, functional assessment for distinct GATA6 variants from different severity of congenital heart defects, especially from mild defects, is lacking, which hinders our understanding of the genotype-phenotype correlations and underlying mechanisms.Here, we assessed the functional consequences of nine rare GATA6 variants, which had been implicated as the most significant variants associated with mild congenital heart defects using the largest case and control cohort. We examined the effects of these variants on subcellular localization, transcriptional activity, and protein interactions in 293T or AC16 cells and their ability to rescue heart malformation in gata6 zebrafish mutant.We found that two of these nine variants, Q120X and S424I, significantly decreased transcriptional activity. Additionally, Q120X altered subcellular localization. Consistent with the in vitro results, the in vivo results showed that Q120X and S424I lost their potency to rescue ventricular malformation in gata6 −/− embryos.The results indicated that Q120X and S424I are pathogenic in mild congenital heart defects. Further, the inconsistence of severely impaired Q120X function and mild CHDs phenotype suggested the complexity of the genotype-phenotype correlation between the GATA6 variant and heart phenotype, which may help to inform prenatal genetic counseling and pre-implantation genotyping for congenital heart defects.

Morbidity and mortality in adults with congenital heart defects in the third and fourth life decade

ObjectivesThe population of adults with congenital heart defects (ACHD) is continuously growing. Data on morbidity and mortality of ACHD are limited. This longitudinal observational study examined a group of ACHD with surgically corrected or palliated congenital heart defects (CHD) during a 15-year period.MethodsACHD that had participated in the initial study were invited for a follow-up examination. Mortality and hospitalization data were compared with a healthy control group.ResultsFrom 05/2017 to 04/2019 a total of 249/364 (68%) ACHD participated in the follow-up study: 21% had mild, 60% moderate and 19% severe CHD. During the observational period, 290 health incidents occurred (cardiac catheterization 37%, cardiovascular surgery 27%, electrophysiological study/ablation 20%, catheter interventional treatment 14%, non-cardiac surgery 3%). Events were more frequent in ACHD with moderate (53%) and severe (87%) compared to those with mild CHD (p < 0.001). 24 individuals died at a median age of 43 years during the observation period. 29% of them had moderate and 71% severe CHD corresponding to a mortality rate of 0%, 0.29% and 1.68% per patient-year in ACHD with mild, moderate and severe CHD. Long-term survival was significantly reduced in patients with severe CHD in comparison to individuals with mild and moderate CHD (p < 0.001).ConclusionAfter correction or palliation of CHD, there was remarkable ongoing morbidity and mortality in ACHD patients over the 15-year observation period, particularly in individuals with moderate and severe CHD when compared with the general population. Thus, life-long special care is required for all surgically corrected or palliated ACHD patients.Graphical abstract

Abstract 17250: Novel Association Of Left Ventricular Outflow Tract Obstructions With Chromosome 5p Deletions

Case Presentation: Patient 1: Female infant diagnosed with Cri du Chat Syndrome (CdCS) (Fig. 1A), hypoplastic left heart syndrome variant (Fig. 1 B), duodenal atresia (Fig. 1 E, F), IUGR. Chromosomal microarray (CMA) showed a 4.3 Mb deletion at 5p15.33 (Fig. 1A) and a 32.2 Mb duplication of 5q32. Dysmorphisms including hypertelorism, low set ears, and micrognathia were noted. Echocardiogram showed a hypoplastic left ventricle, mitral valve dysplasia (Fig. 1B), dysplastic aortic valve (Fig. 1C), interrupted aortic arch (Fig. 1D). Patient 2: Male infant prenatally diagnosed with aortic valve stenosis, aortic arch hypoplasia (Fig. 1H, I), and IUGR. Multiple dysmorphic features including microcephaly, hypertelorism, down slanting palpebral fissures, and abnormal distal extremities. CMA revealed a large deletion at 5p13.33-p13.2 (Fig 1G). He underwent aortic valvuloplasty complicated by development of a posterior left ventricular wall pseudoaneurysm (Fig. 1J). He later underwent arch reconstruction. At 2 months of age, he was diagnosed with obstructive jaundice requiring a biliary drain (Fig.1K, L). He had been gaining weight and height steadily (Fig.1M, N). We identified 5 more patients with 5p deletions and left outflow tract obstructions (LVOTO) from the Cytogenomics of Cardiovascular Malformations Consortium (Table 1). Discussion: CdCS is the most common 5p deletion syndrome and is associated with mild congenital heart defects in 15-30% of individuals. There is no reported association between LVOTO and 5p deletions. These 7 patients did not all share the same deletions and had high mortality. Further studies are needed to better understand possible genetic etiologies.

Patients with mild congenital heart defects and atrial arrhythmias: anticoagulate all or follow the CHA2DS2-VASc score?

Abstract Purpose Clinical practice used to anticoagulated all patients with mild congenital heart defects (CHD) and atrial arrhythmias (AA) because of the presence of structural abnormalities. Current guidelines on adult congenital heart disease indicate that in these patients, as per general, the CHA2DS2-VASc score should be followed when deciding upon thromboprophylaxis in case AA. To validate this recommendation, we aimed to assess the incidence of thromboembolism in patients with mild CHD according to CHA2DS2-VASc score using non-vitamin K oral anticoagulants (NOACs) for AA. Methods Data are retrieved from the multinational NOTE-registry, which follows ACHD patients on NOACs for several indications since 2014. Patients in whom NOAC was prescribed for atrial arrhythmias were included in this study. The primary endpoint was the incidence of thromboembolism (TE) and major bleeding (MB). Secondary outcomes were minor bleeding and mortality. Risk stratification was performed using CHA2DS2-VASc score at baseline. Results The NOTE registry has up to date engaged leading ACHD-centers of up to 14 different countries throughout the world, thereby demonstrating a significant effort to fill the gap in science regarding the efficacy and safety of NOACs in the ACHD population. Out of a total of 638 patients, 72 patients had mild congenital defects and NOACs prescribed for AA. The mean age at baseline was 57 (±12) years and 56% was female. Patients were followed up to a maximum of 7 years (202 patient-years; median 2.5, IQR 1.2–4.0). In all patients with a CHA2DS2-VASc score of 0 (n=24), no TE occurred (annualized TE-rate 0%), while 2 patients suffered a MB (annualized MB-rate 3.3%; Figure 1). In patients with a CHA2DS2-VASc score of 1 (n=8) or ≥2 (n=40) the annualized eventrates were 0% and 0.8% for TE, and 0% and 1.7% for MB, respectively. Conclusion These reassuring results demonstrated that the annualized eventrate for TE in patients with mild CHD and a CHA2DS2-VASc score of 0 under treatment with NOACs is very low, at the cost of major bleedings. Following the guidelines seems justified: similar to patients with acquired heart disease the prescription of oral anticoagulant therapy can be refrained from in patients with CHA2DS2-VASc score of 0 and in those with CHA2DS2-VASc score 1 it can be debated weighing the risks and benefits. Funding Acknowledgement Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Netherlands Heart Institute Figure 1. Eventrates of TE and MB

Study of congenital heart defects among neonates in Jos, Nigeria: prevalence and spectrum.

There are few reports of the prevalence of CHD in the neonatal period in sub-Saharan Africa. The only available study in Nigeria was carried out before the widespread availability of echocardiography in the country. We sought to determine the prevalence and spectrum of congenital heart defects (CHD) among neonates in Jos, Nigeria. This cross-sectional study enrolled neonates less than one week of age from the two largest hospitals and their immunisation centres. Relevant information was obtained and an echocardiogram was performed on each neonate. There were 3 857 neonates recruited over a two-year period; male-to-female ratio was 1.1:1. A total of 111 babies had CHD, with a prevalence of 28.8 per 1 000. Sixty-four neonates had mild CHD, with a prevalence of 16.6 per 1 000, while moderate and severe CHD were found in 27 (7.0 per 1 000) and 20 (5.2 per 1 000), respectively. CHD is prevalent in Nigerian neonates and there is therefore a need for advocacy to improve access to its diagnosis at birth for appropriate management.

Long-term Outcomes in Children Treated via Transcatheter Approach for Mild Congenital Heart Defects

Abstract Background: Transcatheter interventions in children with mild congenital heart defects (CHD), such as isolated patent ductus arteriosus (PDA) and atrial septal defect (ASD), have become a common practice in the US in contrast to surgical procedures. Such patients may be exposed to unique risks such as late tissue erosion and arrhythmias. However, data regarding the long term outcomes of patients treated by transcatheter approach compared to those treated surgically for similar lesions are …

Long-term Outcomes in Children Treated via Transcatheter Approach for Mild Congenital Heart Defects

Long-term Outcomes in Children Treated via Transcatheter Approach for Mild Congenital Heart Defects

Complications of Corrective Surgery in Preterm Neonates with Congenital Heart Defects: What is the Solution?

Mild congenital heart defects require no treatment, while severe forms of these diseases need immediate interventions. There are several limits in preterm neonates on drug interventions, interventional procedures, and even heart surgery due to the prematurity of pulmonary, renal, and central nervous systems. Considering the mentioned points, the collaboration of other medical professions, particularly neonatologists, is needed in the treatment of these newborns. The application of surgical and interventional instruments are associated with limitations owing to the low birth weight in these neonates. Therefore, it is essential to review and modify the treatment program for this group of patients. By the advancement of surgical treatments mainly in fetal course and the approval of their efficiency, designing a new interdisciplinary field is necessary. In developing countries, such as Iran, the prenatal diagnosis of congenital heart diseases is difficult because of the lack of expertise in this area. On the other hand, abortion seems to be problematic due to the religious reasons. The legal gestational age for abortion is less than 20 weeks, and the probability of dealing with these kinds of diseases is more than developed countries. During several years, we encountered at least 15 cases with the above-mentioned criteria, five of whom required an immediate intervention. Three patients were dextro-Transpotion of the great arteries, one patient had pulmonary atresia with ventricular septal defect, and the two other ones were suffering from coarctation of the aorta and tricuspid atresia type 1A, who all underwent the palliative surgery.

Severity of congenital heart defects associated with assisted reproductive technologies: Case series and review of the literature

Assisted reproductive technology (ART) has been associated with a higher incidence of congenital anomalies, including a specific increase in the rate of congenital heart defects (CHD). In this study, the rate of CHD in pregnancies resulting from ART at a single high-risk pregnancy referral center are compared to the published literature. Pregnancies were screened by fetal echocardiography for the indication of ART over a 2-year period. CHD were classified as either mild or severe based on the need for postnatal surgical intervention. Results were compared to findings from a literature review of studies examining CHD in pregnancies resulting from ART since 1980. Over the course of two years, 363 fetuses in 264 pregnancies from our cohort were screened for CHD. The incidence of mild CHD in fetuses from ART pregnancies was 2.75% (10 out of 363 fetuses). None of the affected fetuses had severe CHD. Review of the literature yielded 20 studies since 1980 that examined CHD in pregnancies resulting from ART. Composite data from the studies was described based on characterization of severity of the CHD anomalies. The incidence of mild CHD in ART pregnancies was 2.2%, compared to 1% in non-ART pregnancies (out of 332,157 infants). The incidence of severe CHD in ART pregnancies and naturally conceived pregnancies was 1.4% and 1.2%, respectively (out of 661,455 infants). The incidence of unspecified CHD in ART pregnancies was 1.8%, compared to 1% in naturally conceived pregnancies (out of 1,593,277 infants). The greatest increase in risk appears to be for mild CHD (nonsurgical), which may inform counseling of patients prior to use of assisted reproductive technologies.

Somatic Development in Children with Congenital Heart Defects

Somatic development is impaired in children with congenital heart defects (CHDs), and head circumference seems to be a strong predictor of neurodevelopmental prognosis. The aim of this study was to generate up-to-date reference values for the somatic development (head circumference, body weight, and length/height) of children with CHDs. Our study population consisted of all patients included in the PAN study (Prävalenz angeborener Herzfehler bei Neugeborenen in Deutschland), which was conducted prospectively over a 3-year study period by the Competence Network for Congenital Heart Defects. All children with mild, moderate, and severe CHDs born in 2006-2009 in Germany were enrolled. For computing of z-scores, only children with the following characteristics were included: appropriate for gestational age, nonsyndromic disease, term or post-term delivery, and no cardiac surgery. There were 2818 patients included. New z-scores for the described somatic measures of children with mild, moderate, and severe CHDs were computed. Comparisons with the KiGGS study (Gesundheit von Kindern und Jugendlichen in Deutschland) and the Berlin Longitudinal Study revealed significantly lower measurements for all measures-most notably in children with severe CHDs and/or cardiac surgery. In our cohort, no catch-up growth was seen after cardiac surgery. Children with severe CHDs demonstrated the most abnormal pattern in growth, including head circumference before and after cardiac surgery, which is indicative of accompanying brain pathology unrelated to operative injury.

Intellectual Functioning in Children with Congenital Heart Defects Treated with Surgery or by Catheter Interventions.

Studies suggest that children with congenital heart defects (CHD) are at risk for adverse intellectual functioning. However, factors related to lower intellectual functioning in this group are largely unknown. This study describes intellectual functioning in children with CHD in relation to severity of the heart defect, the child's age, and the socioeconomic status of the family (SES). Two hundred twenty-eight children treated with surgery or by catheter technique were tested using the Wechsler intelligence scales to determine full scale IQ (FSIQ). FSIQ was then analyzed in relation to age (3-, 5-, 9-, and 15-year olds), severity of the diagnosis (mild, moderate, and severe), and SES (low, medium, and high). The median age was 70 months (5.8 years) with a range of 162 months [30 months (2.5 years) to 192 months (16.0 years)]. The total mean score on FSIQ was 100.8 (SD = 14.5). Children with severe CHD had significantly lower FSIQ than children with mild and moderate CHD, and 9- and 15-year olds had significantly lower FSIQ compared to the 3-year olds. Children from families with low SES had significantly lower FSIQ than children from medium SES and high SES families. No interaction between severity of diagnosis, age, and SES was found for FSIQ. Eighty-three percent of the children with CHD performed at or above average with respect to FSIQ. SES and severity of diagnosis had significant main effects on FSIQ. These factors should be considered when planning interventions and follow-up programs for children with CHD.

Abstract 18284: Incidence of Epilepsy is Elevated in Children and Young Adults With Congenital Heart Defects Compared With the General Population: A Nationwide Cohort Study

Perioperative seizures related to surgery for congenital heart defects (CHD) are well described; however, few data exist on the long-term risk of epilepsy in patients with CHD. We aimed to estimate the incidence of epilepsy in children and young adults with CHD compared with the general population. Methods: Utilizing data from the Danish National Registry of Patients (DNRP) we identified all patients diagnosed with CHD before the age of 15 years between 1980 and 2010 who were born during the same period. The DNRP is a nationwide hospital discharge registry covering all Danish hospitals. Previously validated methodology using the DNRP was applied to measure the outcome, epilepsy, as well as presence of extra cardiac defects (ECD) and/or syndromes. We used the Danish Medical Birth Registry to identify preterm birth (gestational age&lt;37 weeks). For each CHD subject, we identified 10 controls from the general population using the Danish Civil Registration System, matched by sex and birth year. A unique personal identifier assigned at birth and used in all Danish public registries enabled virtually complete follow up for migration, death, or epilepsy until January 1, 2013. We computed cumulative incidences and hazard ratios (HR) (split at 5 years of age to obtain proportional hazards) of time from CHD diagnosis (index date for controls) to epilepsy. Results: We identified 14,665 CHD subjects with a median age at diagnosis of 2 (IQR 19) months. By 15 years of age, the cumulative incidence of epilepsy was 4% among CHD subjects. The HR of epilepsy among CHD subjects compared with the control cohort was 3.7 (95% CI: 3.2-4.3) below 5 years of age, and 2.4 (95% CI: 2.1-2.7) from 5 to 33 years of age. In the older age group, HR for patients with severe CHD was 2.8 (95% CI: 2.3-3.5), and for mild and moderate CHD was 2.2 (95% CI: 1.8-2.6). After exclusion of all subjects with ECDs and/or syndromes and preterm birth, corresponding HRs were 2.2 (95% CI: 1.6-3.0) and 1.7 (95% CI: 1.3-2.2), respectively. Conclusion: The epilepsy risk was markedly increased in CHD subjects compared with the age and gender matched controls. These findings add evidence to support the importance of developing neuro-protective measures and potentially long-term epilepsy surveillance strategies in the CHD population.

A patient with Trisomy 13 mosaicism: review and case report

Complete Trisomy 13 or Patau’s Syndrome is a relatively common (1/10,000 births) and uniformly fatal chromosomal disorder. In 5% of cases not all cells are trisomic, some cells are euploid [1]. This aberration, known as Trisomy 13 Mosaicism, is not well described but may lead to a milder form of the disease. Descriptive case report and comprehensive literature search of MEDLINE database using PUBMED MeSH terms “mosaicism” “and” “patau syndrome”. A review of references from selected articles was also performed. A seven-week old girl with an antenatal diagnosis of Trisomy 13 Mosaicism was delivered via an uncomplicated birth to a 35 year old mother of African ethnicity. Dysmorphic features include a third fontanelle, a flat nasal bridge, and polydactyly, clenched fists and “rocker-bottom” feet. An echocardiography revealed mild congenital heart defects. Management was nasal oxygen and nasogastric feeding in NICU. The patient was discharged home at 28 days of life with no medical needs and liaised with the palliative care team. At 6 weeks the patient remained clinically stable, having experienced one clinically suggestive seizure but no significant deterioration in her condition. This case adds to the currently limited understanding of Trisomy 13 Mosaicism on which we offer an up-to-date review. It discusses the relation of Trisomy 13 mosaicism to the better-known Patau’s Syndrome, particularly with regards to prognosis, and highlights the ethical dilemmas that arise in the management of such patients for whom predicting outcomes has remained extremely challenging to date. In particular, we examine the role of antenatal counseling and the decision of palliation versus active medical management.

Relationship Satisfaction Among Mothers of Children With Congenital Heart Defects: A Prospective Case-Cohort Study

To assess the level of partner relationship satisfaction among mothers of children with different severity of congenital heart defects (CHD) compared with mothers in the cohort. Mothers of children with mild, moderate, or severe CHD (n = 182) and a cohort of mothers of children without CHD (n = 46,782) from the Norwegian Mother and Child Cohort Study were assessed at 5 time points from pregnancy to 36 months postpartum. A 5-item version of the Relationship Satisfaction scale was used, and relevant covariates were explored. The trajectories of relationship satisfaction among mothers of children with varying CHD severity did not differ from the trajectories in the cohort. All women in the cohort experienced decreasing relationship satisfaction from 18 months after delivery up to 36 months after delivery. Having a child with CHD, regardless of severity, does not appear to exacerbate the decline in relationship satisfaction.

Well-being in mothers of children with congenital heart defects: a 3-year follow-up

This prospective case-cohort study compared subjective well-being (SWB) among mothers whose children had various degrees of congenital heart defects (CHD) with mothers of children without CHD (controls). Nationwide CHD registry data were linked to data collected from the Norwegian Mother and Child Cohort Study at gestational week 30, 6 months, and 36 months postpartum. A total of 175 mothers of children with mild, moderate, and severe CHD were identified in a cohort of 44,144 mothers. The SWB index was operationalized by means of three subscales: a cognitive aspect, positive affect, and negative affect. Mothers of children with severe CHD reported significantly lower SWB than the controls at 6 months postpartum (p = .003), with further decrease in SWB at 36 months postpartum (p = .001). SWB levels in the mild and moderate CHD group did not deviate significantly from controls. The findings suggest a pattern in which all stressors concerning the severely ill child lead to significant deterioration of maternal well-being. Having a child with mild or moderate CHD, which is a less severe and shorter-term stressor, did not reduce mothers' well-being.

Neurologische und psychomotorische Entwicklung von Feten und Neugeborenen mit angeborenen Herzfehlern - Ursachen und Prävalenz von Störungen im Langzeitverlauf

Children with severe congenital heart defects (CHD) requiring open heart surgery in the first year of life are at high risk for developing neurological and psychomotor abnormalities. Depending on the type and severity of the CHD, between 15 and over 50% of these children have deficits, which are usually confined to distinct domains of development, although formal intelligence tends to be normal. Children with mild CHD, who comprise the majority of congenital heart defects, have a far better developmental prognosis than those with complex CHD. This review concentrates on the impact of severe CHD on the developing brain of the foetus and infant. It also provides a summary of recent clinical and neuroimaging studies, and an overview of the long-term neurological prognosis. Advanced neuroimaging modalities indicate that, related to altered cerebral blood flow and oxygenation, foetuses with severe CHD show delayed third trimester brain maturation and increased vulnerability for hypoxic injury. Morphological and neurological abnormalities are present before surgery, commonly affecting the white matter. In the long-term, impaired neurological and developmental outcomes are related to the combination of prenatal, perinatal and additional perioperative risk factors. Therefore, new therapeutic approaches aim to optimise the intra- and perinatal management of foetuses and newborns with congenital heart defects. Identification and avoidance of risk factors, early neurodevelopmental assessment and therapy may optimise the long-term outcome in this high-risk population.