Double trouble - dual outflow tract obstruction in congenital heart disease: a case report.

BACKGROUND: Double chambered right ventricle is a rare congenital heart disease that is characterised by the presence of an anomalous muscle bundle that divides the right ventricle into a low pressure superior (distal) chamber and a high pressure inferior (proximal) chamber. It is found in association with a ventricular septal defect in 90% cases with other associations being tetralogy of Fallot, transposition of great vessels, atrial septal defect and Ebstein's anomaly. On the other hand, subaortic membrane is a form of discrete subaortic stenosis that is characterised by a membranous diaphragm in the subvalvular location of the left ventricular outflow tract. Both of these entities are responsible for causing subvalvular outflow tract obstruction. The occurrence of double chambered right ventricle in association with subaortic membrane is an extremely rare entity with only a few case reports available in the literature. CASE REPORT: A 13-year-old male child with history of chest pain and palpitations presented to the outpatient department of a tertiary care center. Transthoracic echocardiography revealed a subaortic membrane producing a pressure gradient across the left ventricular outflow tract with dilatation of the right atrium and right ventricle which could not be fully evaluated on echocardiography. Cardiac computed tomography was then performed which additionally revealed an anomalous muscle bundle coursing across the right ventricle from the septum to the subinfundibular region creating a double chambered right ventricle. The patient was then taken up for reconstruction of right ventricular outflow tract and resection of subaortic membrane. CONCLUSION: Right and left outflow tract obstructions are rare congenital lesions which when seen in combination, become even more infrequent. Echocardiography is a robust tool that detects turbulent flow to identify such lesions. However, poor acoustic window may sometimes result in missing these lesions and computed tomography in such situations can play an important role in detection as well as complete preoperative imaging evaluation.

The Impact of Transcatheter or Surgical Defect Closure on Self-Reported Sleep Quality in Adults with Atrial Septal Defect.

OBJECTIVE: Sleep quality in those with cardiovascular disease is significantly lower than in the general population. This study aimed to explore the effect of transcatheter or surgical closure of atrial septal defect (ASD) on sleep quality. METHODS: One hundred nineteen adult patients with ASD who underwent transcatheter or surgical closure were included in the study. Sleep quality was investigated prospectively just before defect closure and six months after defect closure. Pittsburgh Sleep Quality Index (PSQI) was used to evaluate sleep quality of these patients. RESULTS: PSQI scores were similar in both groups before the procedure in patients who underwent both transcatheter and surgical closure. The PSQI scores six months after transcatheter closure was significantly improved compared to the PSQI score before transcatheter ASD closure (3.5 ± 2.0 vs. 6.9 ± 3.4, respectively; P<0.001). The PSQI scores six months after surgical ASD closure was significantly improved compared to the PSQI score before surgical closure (4.8 ± 2.1 vs. 7.1 ± 2.0, respectively; P<0.001). Total PSQI scores were also statistically different at six months after transcatheter and surgical closure (3.5 ± 2.0 vs. 4.8 ± 2.1, P=0.014). However, six months after both transcatheter and surgical closure, PSQI scores were significantly decreased in both groups which was more pronounced in patients who underwent transcatheter closure. CONCLUSION: Transcatheter or surgical closure of the defect may be beneficial in improving the sleep quality of adult patients with ASD. Delayed improvement of sleep quality after surgical closure may be an important advantage for transcatheter closure.

Trends of mortality rate in patients with congenital heart defects in Germany-analysis of nationwide data of the Federal Statistical Office of Germany.

BACKGROUND: Congenital heart defects (CHD) are still associated with an increased morbidity and mortality. The aim of this study was to analyze trends of mortality rates in patients with CHD between 1998 and 2018 in Germany. METHODS: Data of registered deaths with an underlying diagnosis of CHD were used to evaluate annual mortality between 1998 and 2018. Polynomial regressions were performed to assess annual changes in CHD-associated mortality rates by age groups. RESULTS: During the 21-year study period, a total of 11,314 deaths were attributed to CHD with 50.9% of deaths in infants (age < 1 year) and 28.2% in neonates (age ≤ 28 days). The most frequent underlying CHDs associated with death were hypoplastic left heart syndrome (n = 1498, 13.2%), left ventricular outflow tract obstruction (n = 1009, 8.9%), atrial septal defects (n = 771, 6.8%), ventricular septal defects (n = 697, 6.2%), and tetralogy of Fallot (n = 673, 5.9%), and others (n = 6666, 58.9%). Among all patients, annual CHD-related mortality rates declined significantly between 1998 and 2010 (p < 0.0001), followed by a significant annual increase until 2018 (p < 0.0001). However, mortality rates in 2018 in all ages were significantly lower than in 1998. CONCLUSION: Mortality in CHD patients decreased significantly between 1998 and 2010, but a substantial number of deaths still occurred and even significantly increased in the last 3 years of the observation period particularly in neonates and infants. This renewed slight increase in mortality rate during the last years was influenced mainly by high-risk neonates and infants. Assessment of factors influencing the mortality rate trends in association with CHD in Germany is urgently needed. Obligatory nationwide registration of death cases in relation to surgical and catheter interventions in CHD patients is necessary to provide additional valuable data on the outcome of CHD.

Risk factors for isolated atrial septal defect secundum morbidity.

Atrial septal defect secundum is a common type of congenital heart defect and even more common among children born premature. The aim of this study was to assess premature birth as a potential associated risk factors for cardiac morbidity in children with isolated ASD II. In this retrospective national registry-based case-control study all children born in Sweden between 2010 and 2015 with an isolated ASD II diagnosis were included. Association between premature birth and cardiac morbidity in children with isolated ASD II was assessed by different outcomes-models using conditional logistic regression and adjustments were made for confounding factors. Overall, 11% of children with an isolated ASD II received treatment for heart failure. Down syndrome was the only independent risk factors for associated with cardiac morbidity in children with ASD II (OR = 2.25 (95%CI 1.25-4.07). Preterm birth in children was not associated with an increased risk of ASD II cardiac morbidity.

Correlation between essential and toxic elements in maternal blood during early pregnancy and atrial septal defects/ventricular septal defects/patent ductus arteriosus in offspring.

BACKGROUND: Congenital heart defects (CHDs) are the most common congenital malformation in the world. Recent studies have found that essential and toxic trace element levels may play a crucial role in the risk of neonatal malformation. However, the relationships between element levels in early pregnancy and CHD risk among humans remain unclear. This study investigates the association between maternal essential element (copper [Cu], zinc [Zn], calcium [Ca], manganese [Mg] and iron [Fe]) and toxic element (lead [Pb] and cadmium [Cd]) levels during early pregnancy and CHDs. METHODS: A hospital-based case-control study was conducted, including 181 cases and 218 controls. Eligible participants underwent antenatal examination during gestational weeks 11-14 and trace element levels were detected by the atomic absorption method. Multi-variable logistic regression was used to examine the associations between the level of maternal trace elements and CHD risks. RESULTS: Higher levels of Ca in early pregnancy were associated with lower risk of ASD/VSD risks. Moreover, higher Fe, Pb, and Cd levels in the first trimester were associated with higher risks of all CHD and the subtypes risks, and the tests for trend were significant (all p < .05). The restricted cubic spline analysis showed that there was a nonlinear inverted u-shaped dose-response relationship between levels of Zn, Pb, and Cd in the first trimester and risk of CHDs (non-linearity test p < .05). CONCLUSIONS: A moderate increase in Zn and Ca levels and a decrease in Pb and Cd levels during early pregnancy are needed to reduce the incidence of CHDs in the Chinese population.

Left Atrial Septal Pouch (LASP) and cryptogenic stroke risk: An updated systematic review and meta-analysis of observational studies.

BACKGROUND: The left atrial septal pouch (LASP) is a small anatomical septal recess in the heart that has been linked with cardioembolic events. A systematic appraisal of the existing literature is necessary to establish a better understanding of the risk as studies continue to indicate a correlation between LASPs and cryptogenic strokes. OBJECTIVES: To determine the level of association between the presence of LASP and the risk of developing cryptogenic stroke. METHODS: We searched PubMed, EMBASE and Scopus for studies comparing the prevalence of LASP in patients with cryptogenic stroke against non-cryptogenic stroke control groups from inception till December, 2023. The Newcastle Ottawa scale was used for quality assessment and Comprehensive Meta-Analysis Version 3.3 was used for data analysis with odds ratio (OR) as the effect measure. RESULTS: Our review included a total of 10 retrospective, observational studies published between 2010 to 2022. A total of 683 cases of cryptogenic strokes were identified, out of which 33.1 % (n = 271) were associated with a LASP. Among the non-cryptogenic stroke controls (n = 2641), LASP was present in 20.6 % cases (n = 476). The aggregate OR for cryptogenic stroke was 1.618 times greater than non-cryptogenic stroke (p < 0.001) among LASP cases, CONCLUSION: The presence of a septal pouch in the left atrium is significantly linked to a higher risk of developing cryptogenic strokes. As a potential site of thrombus formation and subsequent dislodgement, further large-scale studies are necessary to establish the guidelines for management and prophylaxis to prevent embolic events.

Cerebral Embolism and MINOCA Secondary to Left Atrial Myxoma after Occlusion of Atrial Septal Defect by Amplatzer Occluder: A Case Report.

Primary heart tumors are rare, with atrial myxomas being the most common type. Atrial myxomas can lead to embolisms, heart obstruction, and systemic symptoms. Herein, we report a case of 72-year-old woman who presented with a left atrial myxoma at the atrial septal defect occluder, a new acute cerebral infarction, and MINOCA (myocardial infarction with no obstructive coronary atherosclerosis). Left atrial myxoma is a common primary cardiac tumor; however, left atrial myxomas arising after percutaneous atrial septal defect occlusion are rare. Additionally, the patient presented with a new case of multiple systemic emboli. The patient underwent surgical resection of a left atrial myxoma, occluder, and left atrium, and atrial septal repair, and was discharged with good recovery for outpatient follow-up. The possibility of a cardiac tumor, especially an atrial myxoma, which can lead to a series of complications, should be considered at the closure site after percutaneous atrial septal closure. Therefore, active surgical treatment and long-term follow-up are warranted in such cases.

Risk factors characterisation for CHD: a case-control study in Bogota and Cali, Colombia, 2002-2020.

OBJECTIVE: CHDs correspond to 28% of all congenital anomalies, being the leading cause of infant mortality in the first year of life. Thus, it is essential to explore risk factors for CHDs presentation, allowing the detection of probable cases within a population. METHODS: We identified newborns with CHDs within a cohort from the Program for the Prevention and Monitoring of Congenital Defects in Bogota and Cali, 2002-2020. Cases were classified as isolated, complex isolated, polymalformed, and syndromic. Variables were analysed by comparing case and control averages with Student's t test using a 95% confidence level. RESULTS: Prevalence obtained was 19.36 per 10 000 live births; non-specified CHD, ventricular septal defect, and atrial septal defect were the most prevalent. As risk factors were found: paternal and maternal age above 45 years, pregestational diabetes, mother's body mass index above 25, low educational level, and socio-economic status. As protective factors: folic acid consumption within the first trimester and pregestational period. CONCLUSION: Different risk and protective factors associated with the presentation of CHDs have been described. We consider that public health strategies should be aimed to reduce risk factors exposure. Also, improving diagnosis and prognosis by having a close monitoring on high-risk patients.

A commentary regarding the article 'A meta-analysis of atrial septal defect closure in patients with severe pulmonary hypertension: Is there a room for poking holes amidst debate?'

Atrial septal defects (ASD) are a common congenital heart defect. The majority of patient with ASDs often follow an uncomplicated course of events. However, a proportion of patients with ASDs, may have their condition complicated by pulmonary hypertension (PH), with a subsequent significant impact on management, morbidity, and mortality. The presence of PH influences the suitability for defect closure. Suitability for ASD closure when PVR is between 2.3 and 4.6 WU (PVRi 4-8 WU/m2) is not straightforward and clinical decision-making is individualized. Considerations include, whether to intervene with a complete defect closure, fenestrated closure or the 'treat and repair' strategy. However, it is difficult to determine the outcomes for ASD closure in patients with moderately-to-severely elevated PVR. A "treat and repair strategy" might be an option. In addition, the patient should be carefully selected by the observation of PVR change through vasoreactivity and balloon occlusion tests, and then closure should be considered. For patients with a predictable poor prognosis, research on the risk assessment of ASD closure in patients with PAH will be needed for a more individualized treatment plan.

Atrial septal defect-associated pulmonary hypertension with decompensated heart failure: outcomes after fenestrated device closure.

BACKGROUND: Up to 90% of adults with untreated atrial septal defect will be symptomatic by 4th decade, and 30-49% will develop heart failure. 8-10% of these patients have pulmonary arterial hypertension with a female predominance regardless of age. We aimed to demonstrate that fenestrated closure can be safely performed in patients with decompensated heart failure and atrial septal defect-associated pulmonary arterial hypertension with improved outcome. METHODS: Transcatheter fenestrated atrial septal defect closures (Occlutech GmbH, Jena, Germany) were performed on a compassionate-use basis in 5 consecutive adult patients with atrial septal defect-associated pulmonary arterial hypertension and severe heart failure with prohibitive surgical mortality risks. Change in systemic oxygen saturation, 6-minute walk test, NYHA class, echocardiographic and haemodynamic parameters were used as parameters of outcome. RESULTS: All patients were female, mean age 48.8 ± 13.5 years, followed up for a median of 29 months (max 64 months). Significant improvements observed in the 6-minute walk test, and oxygen saturation comparing day 0 time point to all other follow-up time points data (B = 1.32, SE = 0.28, t (22.7) = -4.77, p = 0.0001); and in the haemodynamic data (including pulmonary vascular resistance and pulmonary pressure) (B = -0.60, SE = 0.22, t (40.2) = 2.74, p = .009). All patients showed improved right ventricular size and function along with NYHA class. There were no procedure-related complications. CONCLUSION: Fenestrated atrial septal defect closure is feasible in adults with decompensated heart failure and atrial septal defect-associated pulmonary arterial hypertension. It results in sustained haemodynamic and functional improvement.

A Meta-Analysis of Atrial Septal Defect Closure in Patients With Severe Pulmonary Hypertension: Is There a Room for Poking Holes Amid Debate?

Severe pulmonary arterial hypertension (PAH) associated with atrial septal defect (ASD) poses a challenge to a closure of ASD, particularly severe PAH that persists even after pharmacological therapeutic strategy. Our study was aimed to evaluate this matter. A systematic literature search from several databases was conducted up until August 1st, 2023. A meta-analysis was undertaken on studies that reported hemodynamic measurements in ASD patients with severe PAH before and after closure. The primary objectives were the extent of improvement in all hemodynamic parameters following closure, and the secondary outcomes were major adverse cardiac events (MACEs) during follow-up. Our study comprised 10 studies with a total of 207 participants. Patients were divided into treat-and-repair and straight-to-repair groups based on the therapeutic strategy. Meta-analysis of all studies demonstrated significant improvement in mean pulmonary arterial pressure (mPAP), pulmonary vascular resistance (PVR), pulmonary vascular resistance index (PVRI), 6-minutes walking distance (6MWD), and lower prevalence of World Health Organization functional classes (WHO fc), particularly in the treat-and-repair strategy subgroup. Additionally, merely 4 of the 156 individuals died from cardiac causes, and only 1 required rehospitalization, indicating a low likelihood of MACEs arising. Our new findings support the notion that effective shunt closure can improve various hemodynamic parameters in carefully chosen patients with noncorrectable ASD-PAH. Further large and prospective observational studies are still warranted to validate these findings.

An editorial regarding the article 'A meta-analysis of atrial septal defect closure in patients with severe pulmonary hypertension: is there a room for poking holes amidst debate?'

Pulmonary arterial hypertension (PAH) related to an atrial septal defect (ASD) poses a challenge to transcatheter closure of an ASD. In patients with untreated ASDs, chronic pulmonary over-circulation due to shunt flow can cause pulmonary vascular remodeling and increased pulmonary vascular resistance. PAH is one of the difficult situations to treat. Complex pathophysiology, association of the multiple comorbidities make clinical scenario challenging. The closure of ASD in patients with PAH improves PAH severity and cardiac functional capacity and reduces atrial arrhythmias. However, some patients show remaining PAH or aggravation of PAH post-ASD closure. PAH is a strong predictor of mortality in older patients who undergo ASD closure. Hence, the decision to opt for ASD closure should be carefully considered in high-risk patients with PAH. As per the American Heart Association/American College of Cardiology 2018 guidelines, ASD with elevated pulmonary artery pressure (PAP) and pulmonary vascular resistance (PVR) more than two-thirds systemic is considered to be a contraindication for closure. However, it is difficult to determine the outcomes for ASD closure in patients with moderately-to-severely elevated PVR. A "treat and repair strategy" might be an option. In addition, the patient should be carefully selected by the observation of PVR change through vasoreactivity and balloon occlusion tests, and then closure should be considered. For patients with a predictable poor prognosis, research on the risk assessment of ASD closure in patients with PAH will be needed for a more individualized treatment plan.

Effect of concomitant atrial septal defect on left ventricular function in adult patients with unrepaired Ebstein's anomaly: a cardiovascular magnetic resonance imaging study.

BACKGROUND: Due to the heterogeneity of anatomic anomalies in Ebstein's anomaly (EA), particularly in the subset of patients with atrial septal defect (ASD), hemodynamic changes, which ultimately cause left ventricular (LV) deterioration remain unclear. The current study aimed to investigate the effect of concomitant ASD on LV function using cardiovascular magnetic resonance (CMR) imaging in patients with EA. METHODS: This study included 31 EA patients with ASD, 76 EA patients without ASD, 35 patients with simple ASD and 40 healthy controls. Left/right ventricular (RV, the RV was defined as a summation of the functional RV and atrialized RV in EA patients) volumes and functional parameters, LV strain parameters, and echocardiogram indices were compared among the four groups. Associations between variables were evaluated via Spearman or Pearson correlation analyses. The association between risk factors and LV ejection fraction (EF) was determined via multivariate linear regression analysis. RESULTS: Both EA patients and ASD patients had a higher RV/LV end-diastolic volume (RVEDV/LVEDV) as well as lower LV and RV ejection fractions (LVEF/RVEF) compared to healthy controls (all p < 0.05). Moreover, the EA patients with ASD had a significantly higher RVEDV/LVEDV and a lower LVEF and RVEF than those without ASD (all p < 0.05). Multivariate linear regression analysis revealed that the presence of ASD was independently associated with LVEF (ß = - 0.337, p < 0.001). The RVEDV/LVEDV index was associated with LVEF (r = - 0.361, p < 0.001). Furthermore, the LV longitudinal peak diastolic strain rate (PDSR) was lower in EA patients with ASD than those without ASD, patients with simple ASD, and healthy controls (p < 0.05). CONCLUSION: Concomitant ASD is an important risk factor of LV dysfunction in patients with EA, and diastolic dysfunction is likely the predominate mechanism related to LV dysfunction.