Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.

Tumour lysis syndrome in a neonate with transient abnormal myelopoiesis.

BACKGROUND: Tumor lysis syndrome (TLS) is an oncological emergency associated with hematological malignancies or highly proliferative solid tumors, commonly after chemotherapy. It is rarely associated with transient abnormal myelopoiesis. OBSERVATION: We report a rare case of a neonate with transient abnormal myelopoiesis and tumor lysis syndrome, complicated with concomitant heart failure due to an underlying atrioventricular septal defect. Hyperhydration was contraindicated due to heart failure. The patient was managed conservatively with full recovery. CONCLUSION: Tumor lysis syndrome should be suspected in neonates with transient abnormal myelopoiesis with electrolyte abnormalities. Treatment options should be considered carefully for their risks and benefits.

Infant Barlow's Disease in Association with Atrial Septal Defect.

CLINICAL DATA: Female, seven years old, referred to our service complaining about congestive heart failure symptoms due to mitral valve regurgitation and atrial septal defect. Technical description: Echocardiographic findings compatible with Barlow's disease and atrial septal defect, ostium secundum type. OPERATION: She was submitted to mitral valvuloplasty with chordal shortening and prosthetic posterior ring (Gregori-Braile®) along with patch atrioseptoplasty. COMMENTS: Mitral valve regurgitation is a rare congenital heart disease and Barlow's disease is probably rarer. Mitral valve repair is the treatment of choice.

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.

Early Post-operative ECG Changes as a Predictor of Post-pericardiotomy Syndrome Following Atrial Septal Defect Repair.

To identify risk factors associated with post-pericardiotomy syndrome (PPS) in patients undergoing surgical repair of atrial septal defects (ASD). A single-center retrospective study. Tertiary academic hospital. Included were patients of all ages who underwent surgical ASD repair, while exclusion criteria included the absence of post-operative electrocardiogram (ECG), lack of follow-up post-discharge and factors hindering ECG interpretation. Demographic and clinical data, including ECG changes indicative of pericardial inflammation, were collected. The primary outcome measure was the development of PPS, determined based on the standardized European Society of Cardiology (ESC) criteria. Among 190 patients who underwent surgical ASD repair, 154 (81%) met the inclusion criteria. Of these, 25 (16%)in total developed PPS, of which 60% were ≥ 18 years of age and 56% female. Significant associations relating both early ECG changes and pre-discharge pericardial effusion with subsequent occurrence of PPS were found in both univariate and multivariate analyses. The study establishes correlations of both early post-operative ECG changes indicative of inflammation and pre-discharge pericardial effusion with subsequent occurrence of PPS in patients undergoing surgical ASD repair. Both utilizing the standardized ESC definition of PPS and incorporating a physician-validated ECG evaluation strengthened the methodologic approach in establishing these relationships. The results also highlight the importance of considering age as a potential risk factor for PPS. Further research is needed to validate these findings and explore additional risk factors predicting early identification and management of patients at high risk for PPS following surgical ASD repairs.

Comparison of atrial septal defect and patent foramen ovale in cryptogenic strokes.

OBJECTIVES: Paradoxical embolism from right-to-left shunt through atrial septal defect (ASD) and patent foramen ovale (PFO) is a well-accepted cause of "cryptogenic" strokes (CS). To better understand the pathogenic role of ASD, we compared ASD patients with CS having a high and low likelihood of being PFO-related. METHODS: In the Acute Stroke Registry and Analysis of Lausanne, we calculated prevalence of PFO and ASD in CS patients undergoing echocardiography, and calculated odds ratios (OR) when compared to non-CS. Using the Risk of Paradoxical Embolism (RoPE) score, we divided CS PFO patients in high (HL-PFO, RoPE 8-10) and low-likelihood (LL-PFO, RoPE 0-4) PFO-related stroke. We then performed univariate comparison of epidemiological, clinical and radiological variables of ASD patients with both PFO groups. RESULTS: Among all CS, prevalence of ASD and PFO were 1.3% and 36.8% respectively. When compared to non-CS, ASD and PFO were associated with CS (OR of 5.2, CI= 1.6-16.6, and 2.8, CI= 2.1-3.8). Compared with HL-PFO, ASD patients were older, more often female, had more cardiovascular risk factors and silent strokes. Compared with LL-PFO, ASD patients were younger, more often female, and had less risk factors. No differences were found for clinical and radiological characteristics and clinical outcome. CONCLUSION: ASD is a rare stroke risk factor for CS. Since characteristics of such patients lie in-between high and low-likelihood paradoxical PFO-strokes, a thorough work-up for other stroke mechanisms is warranted. Individual evaluation of the likelihood of the ASD being causative for stroke may be preferable over routine ASD 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.

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.

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.

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.