Animal models of pulmonary arterial hypertension associated with atrial septal defect.

Pulmonary arterial hypertension (PAH) is a well-known complication of congenital heart disease (CHD). The lack of a satisfactory animal model for PAH associated with CHD (PAH-CHD) has limited progress in understanding the pathogenesis of PAH and the development of therapeutic agents. The development of a rat model for PAH associated with atrial septal defect (ASD) was achieved through atrial septal puncture and thermal ablation. Two and 4 weeks after modeling, hematoxylin and eosin staining showed that the vascular thickness, vascular thickness index, vascular area, and vascular area index in pulmonary arteries with an outer diameter of 50-300 µm in the PAH-ASD 2 and 4 weeks group were higher than those in the sham group (all P < 0.05). Alpha-smooth muscle actin (ɑ-SMA) staining showed that the medial thickness, medial thickness index, medial area, and medial area index in pulmonary arteries with an outer diameter of 50-300 µm at 2 and 4 weeks after modeling were significantly higher than those in the sham group (all P < 0.05). Additionally, mean pulmonary arterial pressure (mPAP) and pulmonary vascular resistance (PVR) in the PAH-ASD 2 and 4 weeks groups were significantly higher than those in the sham group (both P < 0.05). Elastin van Gieson staining showed that the vascular obstruction score in the PAH-ASD 2 and 4 weeks group was significantly higher than that in the sham group (both P < 0.05). The PAH-ASD rats were successfully generated. These findings suggest that our model would be useful for further research into the pathogenesis, prevention, and treatment of PAH-ASD.

Presentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report.

BACKGROUND: Cleft in the mitral valve leaflet is a primary cause of congenital mitral regurgitation, stemming from developmental anomalies in the mitral valve and frequently associated with other congenital heart defects. Concurrent presence of cleft in mitral valve leaflet with atrial septal defect and ventricular septal defect is relatively rare. Echocardiography, especially transesophageal echocardiography, is essential in diagnosing cleft mitral valve leaflet and related congenital heart defects, providing critical, detailed imagery for accurate assessment. This study presents a young female patient whose anterior mitral cleft, along with atrial septal defect and ventricular septal defect, was revealed through three-dimensional transesophageal echocardiography. CASE PRESENTATION: A 25-year-old Iranian female, experiencing progressive dyspnea and diminished physical capacity over 3 months, was referred to our hospital. Initial examination and transthoracic echocardiography indicated severe mitral regurgitation. Further evaluation with transesophageal echocardiography corroborated these findings and identified a cleft in the anterior mitral valve leaflet, coupled with mild left ventricular enlargement and significant left atrial enlargement. The complexity of the patient's condition was heightened by the diagnosis of cleft mitral valve leaflet in conjunction with atrial septal defect and ventricular septal defect, showing the complex nature of congenital defects. CONCLUSION: This case emphasizes the critical role of transthoracic echocardiography in diagnosing cleft of mitral valve leaflet and associated cardiac anomalies, showcasing its superiority over transthoracic echocardiography for detailed visualization of cardiac structures. The identification of multiple congenital defects highlights the necessity for a comprehensive diagnostic approach to manage and treat patients with complex congenital heart diseases effectively. Future research should aim to refine diagnostic methodologies to enhance patient outcomes for cleft of mitral valve leaflets and related congenital conditions.

Quantitative evaluation of right ventricular myocardial function changes in patients with atrial septal defect before and after occlusion by noninvasive right ventricular pressure-strain loop.

OBJECTIVE: The noninvasive right ventricular pressure-strain loop (PSL) represents a novel method for the quantitative assessment of right ventricular myocardial function. Given that atrial septal defect (ASD) is a prevalent congenital heart anomaly associated with right ventricular volume overload, this study aimed to quantitatively assess the myocardial function of the right ventricle in ASD patients pre- and post-occlusion by noninvasive right ventricular PSL. METHODS: This study included 36 patients diagnosed with secundum ASD group and 30 healthy adults (control group). We compared conventional right ventricular echocardiographic parameters, right ventricular strain, and myocardial work in the ASD group before occlusion, two days post-occlusion, and three months post-occlusion, with those in the control group. RESULTS: Prior to and two days following occlusion, the ASD group exhibited higher right ventricular global work index (RVGWI), right ventricular global wasted work (RVGWW), and right ventricular global constructive work (RVGCW) compared to the control group (P < .05). Within the ASD group, post-occlusion, RVGWI, RVGCW, and RVGWW values were significantly reduced compared to pre-occlusion values (P < .001). Furthermore, RVGWI and RVGCW showed a significant decrease three months after occlusion compared to two days post-occlusion (P < .05). Multivariate regression analysis identified ASD diameter and pulmonary artery systolic pressure (PASP) as independent predictors of RVGWI (ß = .405, P < .001; ß = 2.307, P = .037) and RVGCW(ß = .350, P<.001; ß = 1.967, P = .023). CONCLUSIONS: The noninvasive right ventricular PSL effectively demonstrates the alterations in right ventricular myocardial function in ASD patients, pre- and post-occlusion. The metrics of right ventricular myocardial work (RVMW) offer a novel indicator for evaluating right ventricular myocardial function in these patients. Moreover, ASD diameter and PASP emerge as independent determinants of RVGWI and RVGCW.

Patent Foramen Ovale and Atrial Septal Defect.

Patent foramen ovale (PFO) and atrial septal defects (ASDs) are two types of interatrial communications with unique clinical presentations and management strategies. The PFO is a normal part of fetal development that typically closes shortly after birth but may persist in as many as 25% to 30% of adults. The communication between atria may result in paradoxic embolism and embolic stroke. On the other hand, ASDs (anatomically defined as secundum, primum, sinus venosus, and coronary sinus in order of prevalence) typically result in right heart volume overload and are often associated with other congenital defects. The diagnostic methods, treatment options including surgical and percutaneous approaches, and potential complications are described. Both conditions underline the significance of precise diagnosis and appropriate management to mitigate risks and ensure optimal patient outcomes.

The association of right ventricular-pulmonary arterial coupling and pulmonary vascular resistance in adult patients with uncorrected atrial septal defect.

BACKGROUND: Atrial septal defects (ASD) are the most common type of adult congenital heart disease (ACHD) associated with a high risk developing of pulmonary arterial hypertension (PAH). ASD closure is not recommended in patients with PAH and Pulmonary Vascular Resistance (PVR) ≥ 5 Wood Unit (WU). Noninvasive methods have been proposed to measure PVR; however, their accuracy remains low. Right Ventricle (RV) - Pulmonary Artery (PA) coupling is defined as the ability of the RV to adapt to high-resistance conditions. Tricuspid Annular Plane Systolic Excursion (TAPSE)/estimated pulmonary artery systolic pressure (ePASP) calculation using echocardiography is a noninvasive technique that has been proposed as a surrogate equation to evaluate RV-PA coupling. Currently, no research has demonstrated a relationship between RV-PA coupling and PVR in patients with ASD. METHODS: The study participants were consecutive eligible patients with ASD who underwent right heart catheterization (RHC) and echocardiography at Hasan Sadikin General Hospital, Bandung. Both the procedures were performed on the same day. RV-PA Coupling, defined as TAPSE/ePASP > 0.31, was assessed using echocardiography. The PVR was calculated during RHC using the indirect Fick method. RESULTS: There were 58 patients with ASD underwent RHC and echocardiography. Among them, 18 had RV/PA Coupling and 40 had RV/PA Uncoupling. The PVR values were significantly different between the two groups (p = 0.000). Correlation test between TAPSE/ePASP with PVR showed moderate negative correlation (r= -0.502, p = 0.001). TAPSE/ePASP ≤ 0.34 is the cutoff point to predict PVR > 5 WU with sensitivity of 91.7% and specificity 63.6%. CONCLUSION: This study showed a moderate negative correlation between TAPSE/ePASP and PVR. TAPSE/ePASP ≤ 0.34 could predict PVR > 5 WU with good sensitivity.

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.

Long-term impact of transcatheter closure interatrial shunts on disabling migraine.

BACKGROUNDS: Effectiveness of patent foramen ovale (PFO) closure on relief of migraine, is still unclear. We sought to analyse the long-term (>10 years) effects of interatrial septal shunt repair on disabling migraine performing a retrospective non-randomised study. METHODS: Clinical records of patients with disabling, medication-refractory migraine and PFO or significant ASD referred to our centre for closure from 2006 to 2018, were analysed. RESULTS: Forty -six patients (38 female, mean age 40.0 ± 3.7 years) with PFO and 32 patients with significant ASD (28 female, mean age 38.0 ± 4.1 years) submitted to transcatheter closure had a pre-existing disabling migraine with mean Migraine Disability Assessment Score (MIDAS) of 35.8 ± 4.7. After a mean follow-up of 118.2 ± 19.1 months (range 96 to 144), 72 out of 78 patients were still followed-up: in all subjects, aura was abolished, and migraine improved also in patients without aura. The mean MIDAS significantly decreased from baseline value (p < 0.01). Complete migraine resolution was associated in PFO patients with a shorter history of migraine, a more severe thrombophilic profile, a more severe Right-to-Left Shunt (RLS) and larger left atrial diameter and volume, and in ASD patients with bidirectional shunt. CONCLUSIONS: Device-based repair of PFO/ASD in patients with migraine was associated with abolition of aura and symptoms reduction in the long-term period.

Concomitant large atrial septal defect closure, biatrial cryoablation and tricuspid valve replacement with mitral homograft.

The concomitant large atrial septal defect closure, endocardial biatrial cryoablation and tricuspid valve replacement with mitral homograft in a patient with adult congenital heart disease is presented. Because of the severely dilated right ventricle and leaflet tenting, tricuspid valve replacement was considered. The patient refused both mechanical and stented biological prosthesis due to personal beliefs, therefore, the alternative valve substitute was proposed. Relevant decision-making process, preoperative diagnostic work-up and surgical technique are highlighted with satisfactory outcomes.

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.

[Peripartum cardiomyopathy with biventricular failure plus pulmonary thromboembolism and atrial septal defect]. / Miocardiopatía periparto con fallo biventricular más tromboembolismo pulmonar y comunicación interauricular.

This case report examines peripartum cardiomyopathy (PPCM), a rare variant of heart failure with reduced ejection fraction, which manifests at the end of labor or puerperium. The frequency of this pathology varies globally, and its association with risk factors such as genetic disorders, autoimmune diseases, viral infections, suggests a multifactorial etiology. Diagnostic criteria include: Heart failure secondary to left ventricular systolic dysfunction, manifested in the puerperium or at the end of pregnancy and lack of other identifiable causes of heart failure. The case presents a patient with no significant personal pathological history, who, 17 days post cesarean section developed acute symptoms, including abdominal pain, dry cough and dyspnea. Clinical findings revealed hypoxemia, alterations in blood tests and an echocardiogram that confirmed an atrial septal defect. Multidisciplinary management resulted in successful treatment and the patient was discharged without complications. This case highlights the importance of MCPP, a disease with high maternal mortality. The connection between atrial septal defect and PPCM, as well as the involvement of pulmonary thromboembolism.

Atrial Septal Abnormalities and Cryptogenic Stroke: A Cross-Sectional Study.

BACKGROUND: Cryptogenic stroke, whose underlying pathology is unknown, accounts for 30-40% of all ischemic strokes. Studies have mentioned the association between atrial septal abnormalities and cryptogenic stroke, but there are still disparities in the results among different studies. OBJECTIVE: We aimed to clarify the prevalence of atrial septal abnormalities in patients with cryptogenic stroke. METHODS: We conducted a cross-sectional study on 91 patients with cryptogenic stroke/transient ischemic attack from March 2021 to March 2022. We evaluated the demographic data of the patients and also the existence of neurologic attacks. Furthermore, echocardiography was performed to determine the type of atrial septal abnormality. RESULTS: Out of 91 patients with cryptogenic stroke/transient ischemic attack, 16 patients (17.5%) had patent foramen ovale, 1 man (1.1%) had atrial septal aneurysm, and 1 woman (1.1%) had an atrial septal defect. Patients with patent foramen ovale were significantly younger than those without. The size of patent foramen ovale in patients with cryptogenic stroke was larger than those with transient ischemic attack, but this difference was not significant. Also, the size of the patent foramen ovale (length and width) was not significantly related to any of the demographic variables (p-value = 0.544, 0.604). CONCLUSION: Based on our results, the prevalence of atrial septal abnormalities was relatively high. Considering these issues and the importance of preventing neurological accidents in patients, especially young people, it is recommended to always consider atrial septal disorders and, if diagnosed, to carry out the necessary treatment in this field.

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.

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.

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.

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.