Right-sided Heart Research Articles

Right Ventricular Myocardial Infarction: Pathophysiology, Diagnosis, and Therapeutic Approaches.

Right ventricular myocardial infarction (RVMI) is a significant and distinct form of acute myocardial infarction associated with considerable morbidity and mortality. It occurs most commonly due to proximal right coronary artery obstruction, often in conjunction with inferior myocardial infarction. RVMI poses unique diagnostic and therapeutic challenges due to the anatomical and functional differences between the right and left ventricles. Key clinical manifestations include symptoms of right-sided heart failure, such as hypotension, jugular venous distention, and peripheral edema. The pathophysiology of RVMI involves impaired right ventricular (RV) function, decreased cardiac output, and poor hemodynamic stability, often leading to cardiogenic shock. Diagnostic tools, including 12-lead electrocardiography, echocardiography, cardiac magnetic resonance imaging, and coronary angiography, play crucial roles in detecting RVMI and determining its severity. Treatment strategies focus on early revascularization through primary percutaneous coronary intervention or thrombolysis, maintaining adequate RV preload, and managing arrhythmias and hemodynamic instability. In severe cases, mechanical circulatory support, such as intra-aortic balloon pumps and extracorporeal membrane oxygenation, may be required. Despite advancements in imaging and therapeutic approaches, RVMI remains a complex condition that demands timely and specialized management to improve patient outcomes. Further research is needed to refine diagnostic and treatment strategies and to reduce the high mortality rates associated with this condition.

Clinical impact of right atrium function on tricuspid regurgitation

Abstract Background tricuspid regurgitation (TR) is frequent, and its related systemic venous congestion is associated with mortality. Purpose This study aims to evaluate the role of right atrial (RA) function, measured using the strain technique, on the medium- to long-term clinical effects of tricuspid regurgitation (TR). Our primary objective was to analyze the impact of RA function, measured at baseline, on a composite endpoint consisting of death and/or hospitalization for predominantly right-sided heart failure. The secondary endpoints are hospitalizations, worsening of renal function, and an increase in diuretic dosage (DD). Methods We performed a single center, prospective, observational study regarding adult patients with tricuspid regurgitation and measurable effective regurgitant orifice area (EROA) and a state of hemodynamic stability that underwent a complete echocardiography and full cardiologic evaluation in our Institution, from January 2020 to February 2023. Those patients with acute HF, poor quality imaging, previous repair or prosthetic replacement of the tricuspid valve, and severe renal or hepatic insufficiency were excluded. Patients were assessed clinically at each follow up. Results 134 patients were included (females 62%, mean age 73 ± 13 years old). Median follow up was 23,5 months (12 - 34 months). TR was functional in 87% of cases and was more than moderate in 52% of cases. Mean RA strain was 18,7 ± 11,2%, and divided patients in low strain (LS) and high strain (HS). HS was associated with lower increase and frequently a decrease in DD (-5,5 ± 44,7 mg vs 20,8 ± 63,2 mg, p = 0,009) but no echocardiographic variable independently predicted an increase in DD. Patients with worsening renal function had significantly lower RA (16.7 ± 10.6% vs 20.7 ± 10.9%, p 0.042). LS independently predicted a worsening renal function (OR 3,07; 95% CI 1,026-9,2). RA strain was significantly lower in hospitalized patients (13.1 ± 8 vs 20.3 ± 11.4, p<0.001). Cox regression analysis showed a LS to be an independent predictor of the composite endpoint (adjusted HR 3.1, 95% CI 1.101 – 8.74) correcting for other clinical and echocardiographic variables. ROC curve analysis showed an RA strain cut-off of 18.5% to have a sensitivity of 79% and specificity of 56% in predicting the combined endpoint. Conclusions RA strain is associated with DD and LS patients have higher DD at follow up. RA strain is an independent predictor of worsening renal function. RA function measured by strain is an independent predictor of the composite endpoint of death and/or hospitalization.

Evolution and New Perspectives of Balloon Pulmonary Angioplasty in CTEPH

Chronic thromboembolic pulmonary disease (CTEPD) and chronic thromboembolic pulmonary hypertension (CTEPH) are debilitating complications of acute pulmonary embolism (PE) that are characterized by fibrosis and organization of the thrombotic material within pulmonary artery branches. This pathology leads to increased right ventricular afterload and dead space ventilation, posing a risk of progressive pulmonary hypertension, right-sided heart failure, and potentially death if left untreated. Pulmonary endarterectomy (PTE) is a technically complex open-heart surgery considered to be a first-line treatment as it is a potentially curative therapy. Although PTE is highly successful in proximal disease, it may not reach the very distal branches. On the other hand, pulmonary vasodilator therapy is very effective in improving microvasculopathy but does not address the obstructive fibrotic component of the larger vessels. Balloon pulmonary angioplasty (BPA) is a novel percutaneous revascularization therapy in which traditional angioplasty techniques are used to relieve obstruction in the pulmonary arteries. This review discusses the currently accepted indications, patient selection, technical considerations, outcomes, and complications of contemporary BPA. This review will address knowledge gaps and future perspectives in BPA research.

Comparison of free-running whole-heart 5D CMR to standard 2D volumetry in patients with right-sided congenital heart disease

Comparison of free-running whole-heart 5D CMR to standard 2D volumetry in patients with right-sided congenital heart disease

The Impact of Right Atrial Function on Prognosis and Renal Function in Patients With Tricuspid Regurgitation.

Tricuspid regurgitation (TR) is related to survival, and right atrial (RA) size and function may play a role. This study aimed to assess the impact of RA function measured by strain (RA strain [RAS]) on outcome and end-organ congestion. We enrolled 134 patients (mean age 73 ± 13 years, 62% women) with any TR grade or etiology and a complete echocardiogram, clinical follow-up, and renal function assessment. The primary end point was a combination of overall mortality and right-sided heart failure hospitalization, and the secondary end point was worsening renal function (WRF). After a median follow-up of 23.5 months (interquartile range 12 to 34 months), the combined end point was reached by 31% of patients. Patients with RAS ≤18% showed lower event-free survival (log-rank p <0.001). In the multivariable analysis, RAS ≤18% (HR 3.1, 95% CI 1.1 to 8.8) and pulmonary artery systolic pressure (PASP) (hazard ratio [HR] 1.02, 95% confidence interval [CI] 1 to 1.05) were independent predictors of the primary end point. Patients with RAS ≤18% and PASP >45 mm Hg had the worst outcome (HR 4.3, 95% CI 2 to 9.5). RAS ≤18% (odds ratio 3.22, 95% CI 1.11 to 9.33) and PASP >45 mm Hg (OR 3.2, 95% CI 1.15 to 8.88) were independent predictors of WRF, adjusting for TR severity, left and right ventricular function, age, gender, diabetes, diuretics, atrial fibrillation. The addition of RAS ≤18% had incremental power over PASP and echocardiographic variables of TR severity and right or left ventricular function to predict WRF (p = 0.026). In conclusion, RA function measured by RAS independently predicts mortality and hospitalizations in patients with TR and independently and incrementally predicts WRF over time.

The Prognostic Value of Right Ventricular End-Diastolic Basal Diameter Index by Echocardiography in Connective Tissue Diseases Associated With Pulmonary Artery Hypertension.

Right ventricular (RV) failure is a well-recognized pivotal prognostic factor of adverse outcomes in pulmonary artery hypertension (PAH), while RV dilation provides significant implications for adaptive or maladaptive changes. PAH is a predominant cause of mortality among patients with connective tissue disease (CTD). This study aims to elucidate the prognostic significance of RV morphology, as assessed by echocardiography (ECHO), in with CTD associated with PAH (CTD-PAH). In this ambispective cohort study, 143 CTD-PAH patients diagnosed by right-sided heart catheterization (RHC) from 2013 to 2023 were enrolled. Clinical characteristics, laboratory data, echocardiographic parameters (right ventricular end-diastolic basal diameter index (RVDDI), tricuspid annular plane systolic excursion (TAPSE) and pulmonary arterial systolic pressure (PASP)) and therapy were recorded. The primary endpoint was defined as clinical worsening within a five-year timeframe. Analytical methods included Kaplan-Meier survival analyses, the log-rank test, and multivariable Cox proportional hazards regression to evaluate prognostic factors. The study enrolled a total of 143 patients with CTD-PAH, with a notable female predominance (95.1%) and a median age of 41.67 years; SLE-PAH (49%) and pSS-PAH (34%) were the most common subtypes, and 94% of the participants were in WHO-FC II-III. Among the participants, 34 (23.8%) patients experienced clinical worsening during a median follow-up period of 21 months. After adjusting for confounders such as age and sex, RVDDI, as determined by ECHO was correlated with clinical worsening (HR 1.090; 95% CI: 1.019-1.166; p = 0.012). RVDDI > 25.81 mm/m2 predicts higher incidence of clinical worsening in CTD-PAH. In the subgroup of TAPSE/PASP > 0.19 mm/mmHg, patients with RVDDI > 25.81 mm/m2 had a higher incidence of clinical worsening. The estimated event-free survival rates at 1 and 3 years were 93.5% and 53.7%, respectively. The study demonstrates that RVDDI, as evaluated by ECHO, is a significant prognostic indicator for clinical worsening in CTD-PAH. Its inclusion in the assessment of RV function and risk stratification may provide valuable incremental prognostic information for this CTD-PAH population.

Clinicolaboratory characteristics and 1-year survival among group 1 pulmonary hypertension in a university hospital

Abstract Background Pulmonary arterial hypertension is a life-threatening disorder of the pulmonary vascular system that can lead to right-sided heart failure, respiratory failure, and death. Still, more knowledge is needed to understand this complex disease. The study objective is to evaluate the clinicolaboratory characteristics of group 1 pulmonary hypertension patients and their survival in the Assiut University pulmonary hypertension unit throughout the study time. Patients and methods Consecutive patients were referred to the Assiut University Chest Department Pulmonary Hypertension unit in collaboration with the cardiology department for diagnosis and management. Patients were diagnosed as group 1 pulmonary hypertension (PH) included in the study. Patient demographic data, clinical presentation, electrocardiography, laboratory data, and invasive and noninvasive hemodynamics at presentation were recorded. The patients were followed through the study time to identify their survival. Results Out of 40 patients referred to the pulmonary hypertension unit throughout the study period, 29 patients have group 1 PH and were included. Their mean age was 44.10 ± 15.14 years, most of them were females (86.2%), 44.8% of patients presented with WHO functional class II, 48.3% of patients with FC III, and 6.9% of patients with FC IV. The mean 6 min walking distance was 256.97 ± 89.46 m. Pulmonary artery catheterization hemodynamic parameters were mean pulmonary artery pressure 52.48 ± 18.24 mmHg, pulmonary vascular resistance 13.32 ± 7.31 WU, cardiac index 2.32 ± 0.83 L/min/m2, and mixed venous oxygen saturation 59.6 ± 7%. The mean follow-up duration is 12.6 ± 8.8 months, and their survival at the end of study time was 82.35%. Serum uric acid, pulmonary vascular resistance, pulmonary artery systolic pressure, and age are predictors of disease progression and mortality. Conclusion Group 1 pulmonary hypertension is an uncommon complex disease with a difficult early diagnosis. Its clinical presentation varies from insidious breathlessness, syncope, palpitation, and obvious right heart failure. Some factors as serum uric acid, pulmonary vascular resistance, pulmonary artery systolic pressure, and age are associated with prognosis. One-year survival was 82.35%. Trial registration ClinicalTrials.gov ID: NCT0479145.

Diagnosis and Management of Group 3 Pulmonary Hypertension in the UAE: Pulmonary Hypertension Associated with Chronic Lung Disease (PH-CLD)

Chronic Lung Diseases (CLDs) constitute one of the most frequent causes of pulmonary hypertension (PH) and rank second after PH due to left heart disease. In PH-CLD, destruction of lung parenchyma is associated with decreased functional capacity, diminished quality of life, increased oxygen requirements, and a heightened risk of death. As both pulmonary arterial hypertension (PAH) and PH due to lung disease are categorized as precapillary PH, it is essential to distinguish between the two conditions, particularly when the lung disease is present with the severe form of PH. If the diagnosis confirms a severe form of PH-CLD, then individualised care is essential in patients with severe lung disease and evidence of right-sided heart failure, particularly those with lower-limb oedema. Moreover, echocardiography (ECHO) and N-terminal-pro hormone B-type natriuretic peptide (NT-proBNP) evaluation are of high importance and must be ordered by the pulmonologist. Right Heart Catheterisation (RHC) is also essential for the determination of the extent and severity of pulmonary vascular involvement. The use of inhaled vasodilators, along with a referral for right heart catheterisation, should be considered at an earlier phase of interstitial lung disease. In addition to therapy, cardiopulmonary rehabilitation programmes have been found to improve six-minute walking tests (6MWT), oxygenation, and functional capacity. This article discusses the screening of PH-CLD along with the treatment algorithm and suggests the promising role of vasodilators in PH-CLD.

A rare case of refractory ascites due to aortic regurgitation delaying peritoneal dialysis catheter removal after renal transplantation

Introduction Removing the peritoneal dialysis (PD) catheter after transplantation is necessary in order to improve quality of life after transplantation. However, there is no consensus on the best timeframe of PD-catheter removal in transplanted patients. Early removal can lead to the absence of dialysis access in case of graft failure. However, late removal is associated with significant infectious risk given the immunosuppression. Herein, we describe an exceptional case of refractory ascites secondary to aortic regurgitation in a cirrhotic patient, delaying the removal of his PD catheter. Case reportWe describe the case of a 49-year old patient, with Child B cirrhosis and end-stage kidney disease on chronic peritoneal dialysis who benefited from kidney transplantation. The scheduled PD catheter flushes were marked by the drainage of ascitic fluid, leading to the postponement of the PD catheter removal. The ascites, thought to be secondary to his long-known cirrhosis, was refractory to optimal drug treatment and the PD catheter was used to remove ascites periodically. As a transjugular intrahepatic portosystemic shunt was planned, a severe aortic regurgitation was diagnosed. After aortic valve replacement, the ascites completely disappeared, and the PD catheter could be removed.DiscussionHeart failure represents only 3% of all refractory ascites. Furthermore, left-side heart failure causing ascites but without signs of right-side heart failure has only been described once in the medical literature. Patients with ascites and kidney failure on PD can safely be managed through the PD catheter instead of recurrent paracentesis. However, in transplanted patients especially, keeping the catheter in place brings significant infectious risk. ConclusionWe described an unusual case of refractory ascites after renal transplantation, due to aortic valve regurgitation. This case highlights the importance of weighing the pros and cons of early PD catheter removal, as PD catheter might be useful as a means of removing ascites.

The Diagnostic Value of Transthoracic Echocardiography for Pulmonary Hypertension: A Systematic Review and Meta-Analysis

Purpose Pulmonary hypertension (PH) is an important cause of morbidity and mortality. A commonly proposed non-invasive method in the diagnosis and assessment of PH is Transthoracic Echocardiography (TTE). In this systematic review and meta-analysis, our aim was to assess the accuracy of echocardiography in the diagnosis of PH. Methods The search was done up to the 31st of January 2023 using MEDLINE, Scopus, CENTRAL, and Web of Sciences databases. The studies were included if they were randomized controlled trials or observational in design and evaluated the diagnostic performance of TTE in diagnosing PH in comparison to right-sided heart catheterization as a reference method. The diagnostic performance measures included sensitivity, specificity, Diagnostic Odds Ratio (DOR), Positive Likelihood Ratio (PLR), and Negative Likelihood Ratio (NLR). Results The total number of the included patients was 4,523 from 38 articles. The overall sensitivity and specificity of echocardiography in diagnosing pulmonary hypertension were 54.8% (95%CI: 45.7%-63.6%) and 52.1% (95%CI: 39.0%-64.9%), respectively. Moreover, the pooled DOR was 1.321 (95%CI: 0.695-2.51). The pooled PLR and NLR were 1.145 (95%CI: 0.830-1.579) and 0.867 (95%CI: 0.628-1.197), respectively. The highest diagnostic performance of TTE was among group 1 and 3 PH patients. Conclusion Our analysis revealed that TTE had low diagnostic sensitivity, specificity, and accuracy. Due to the overall poor diagnostic performance of TTE, the diagnosis of PH and the assessment of response to therapies require right-sided heart catheterization. Future prospective studies to improve the diagnostic performance of TTE in the diagnosis of PH are needed.

Pulsatile Vascular Afterload Measurement Improves Prediction of Right-Sided Heart Dysfunction in Undifferentiated and Left-Sided Pulmonary Hypertension.

The association between raised pulmonary artery pressures, pulmonary vascular resistance (PVR), and right-sided heart dysfunction is well recognized. The added value of pulsatile indices, specifically pulmonary arterial compliance (PAC) and characteristic impedance, remains unclear. This study aimed to identify the optimal vascular afterload model for predicting right-sided heart dysfunction in newly diagnosed pulmonary hypertension (PH). This was a prospective cohort study of 86 patients with suspected PH (60±16 years; 66 women) who underwent right-sided heart catheterization and cardiac magnetic resonance imaging. Right ventricular end-diastolic volume index (RVEDVi) and right atrial (RA) volume index were measured using cardiac magnetic resonance imaging. Vascular resistance, PAC, and characteristic impedance were measured using pulmonary artery pressure from right-sided heart catheterization and pulmonary artery flow from cardiac magnetic resonance imaging. Optimal model fit was determined by the lowest Akaike Information Criterion value. A total of 58% of patients had a right ventricular ejection fraction <50%, 63% had an increased RVEDVi, and 56% had an increased RA volume index. Overall, PVR was the best predictor of right ventricular ejection fraction <50% (P<0.01), increased RVEDVi (P<0.01), and RA volume index (P=0.02). However, for patients with a PVR <240 dynes.s.cm-5, PACclinical outperformed PVR in predicting right ventricular ejection fraction <50% (P=0.02) and increased RVEDVi (P=0.05). A 3-component model (PVR, PACclinical, and characteristic impedance) best predicted RA dilatation (P=0.05). In paired analysis, alternative methods of PAC quantification better predicted increased RVEDVi (PACdecay P=0.02) and RA volume index (PACarea P=0.02). PACclinical <2.3 mL/mm Hg optimally predicted right-sided heart dysfunction (area under the curve, 0.768) and increased the AUC for PVR in undifferentiated/left-sided PH (0.89 versus 0.72). Pulsatile vascular afterload measurement improves right-sided heart dysfunction prediction in undifferentiated/left-sided PH. More accurate PAC measurement methods could further enhance prognostic accuracy, while a PVR ≥240 dynes.s.cm-5 remains a valuable threshold for precapillary PH.

A new perspective on targeting pulmonary arterial hypertension: Programmed cell death pathways (Autophagy, Pyroptosis, Ferroptosis).

Pulmonary arterial hypertension (PAH) is a severe cardiovascular disease characterized by elevated pulmonary vascular resistance, progressive increases in pulmonary artery pressures, ultimately leading to right-sided heart failure, and potentially mortality. Pulmonary vascular remodeling is pivotal in PAH onset and progression. While targeted drug therapies have notably ameliorated PAH prognosis, current medications primarily focus on vascular vasodilation, with limited ability to reverse pulmonary vascular remodeling fundamentally, resulting in suboptimal patient prognoses. Cellular death in pulmonary vasculature, once thought to be confined to apoptosis and necrosis, has evolved with the identification of pyroptosis, autophagy, and ferroptosis, revealing their association with vascular injury in PAH. These novel forms of regulated cellular death impact reactive oxygen species (ROS) generation, calcium stress, and inflammatory cascades, leading to pulmonary vascular cell loss, exacerbating vascular injury, and mediating adverse remodeling, inflammation, immune anomalies, and current emerging mechanisms (such as endothelial-mesenchymal transition, abnormal energy metabolism, and epigenetic regulation) in the pathogenesis of PAH. This review comprehensively delineates the roles of autophagy, pyroptosis, and ferroptosis in PAH, elucidating recent advances in their involvement and regulation of vascular injury. It juxtaposes their distinct functions in PAH and discusses the interplay of these programmed cell deaths in pulmonary vascular injury, highlighting the benefits of combined targeted therapies in mitigating pulmonary arterial hypertension-induced vascular injury, providing novel insights into targeted treatments for pulmonary arterial hypertension.

Relevance of residual tricuspid regurgitation for right ventricular reverse remodelling after tricuspid valve intervention in patients with severe tricuspid regurgitation and right-sided heart failure.

Right ventricular reverse remodelling (RVRR) is linked to improved survival in patients with severe tricuspid regurgitation (TR) and right-sided heart failure who underwent interventional treatment. However, the role of residual TR on RVRR remains unclear. In this analysis the impact of residual TR on RVRR after interventional TR treatment, which was validated by two independent cohorts at four sites using echocardiography or cardiac magnetic resonance (CMR) imaging, was investigated. Overall, 253 patients who were treated for severe TR and right-sided heart failure using different treatment modalities (tricuspid transcatheter edge-to-edge repair [T-TEER], transcatheter tricuspid valve annuloplasty, orthotopic transcatheter TV replacement [TTVR], heterotopic TTVR) were included. Three-dimensional echocardiographic and CMR-based assessment of RVRR and clinical evaluation of decongestion or exercise capacity were performed at baseline and 30 days after the procedure. Mortality was analysed at 1 year after transcatheter tricuspid valve intervention (TTVI). In patients with residual TR ≤1+ pronounced reduction of right ventricular end-diastolic and end-systolic volumes was observed. In patients with residual TR ≥2+ the effect of RVRR gradually decreased with higher residual TR reinforcing the relevance of optimal procedural results for RVRR. These findings were validated in two independent cohorts. In contrast to RVRR, residual TR ≤1+ and 2+ were associated with similar 1-year survival. RVRR was only observed after T-TEER or orthotopic TTVR, but not after heterotopic TTVR as expected. However, all three treatment modalities were accompanied by significant decongestion and functional improvement at 30-day follow-up. In patients with severe TR and right-sided heart failure undergoing TTVI, superior procedural results were associated with more pronounced RVRR.

An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease. Due to difficulty accessing diagnostic services and a lack of awareness of the syndrome, clinicians often fail to recognize the classic phenotype, leading to missed diagnoses. Relevant medical records were accessed through The BIG DATA QUERY AND ANALYSIS SYSTEM of Peking Union Medical College Hospital from September 1, 2012 to March 31, 2024. The search strategy included the following key terms: (bronchiectasis OR atelectasis OR recurrent cough OR recurrent expectoration OR hemoptysis) AND (sinusitis OR nasal polyps OR otitis media OR neonatal pneumonia OR neonatal respiratory distress OR ectopic pregnancy OR infertility OR artificial insemination OR assisted reproduction OR hydrocephalus OR congenital heart disease OR organ laterality defect OR right-sided heart OR semen OR consanguineous marriage). Patients were filtered according to inclusion and exclusion criteria, and those with clinical suspicion of PCD were invited for screening, which included nasal nitric oxide and whole exome sequencing. A total of 874 medical records were retrieved. After filtering based on inclusion and exclusion criteria, 65 patients with clinical suspicion of PCD were identified, 21 of whom accepted our invitation to complete PCD-related screening. Among them, four were diagnosed with PCD, one was diagnosed with cystic fibrosis, and one was diagnosed with immunodeficiency-21. This is the first study to use an electronic medical record retrieval system to identify missed diagnoses PCD. We believe that the methods used in this study can be extended to other rare diseases in the future.

Corrected partial anomalous pulmonary vein connection associated with lung resection: a case report

IntroductionPartial anomalous pulmonary venous connection (PAPVC) is a potential cause of right-sided heart failure. Notably, a risk of sudden circulatory failure exists during lung surgery. Only a few reports of PAPVC complicated by lung cancer requiring lobectomy exist. Here, we report a case of left lower lung lobectomy complicated by an anomalous connection of the left upper pulmonary vein requiring revascularization.Case presentationA 66-year-old man was found with an abnormal mass shadow in the left lower lung field on chest radiography. Bronchoscopy revealed lung adenocarcinoma. Preoperative contrast-enhanced computed tomography showed that the left upper pulmonary vein did not perfuse the left atrium but was connected to the left brachiocephalic vein. Preoperative transthoracic echocardiography revealed right atrial and ventricular enlargement. The clinical diagnosis was stage IB (T2aN0M0). We decided to perform a left lower lobectomy and correct the PAPVC to maintain oxygenation after the lobectomy. The PAPVC was ligated, and the stump of the left upper pulmonary vein was anastomosed to the left atrial appendage without cardiopulmonary bypass. Postoperative contrast-enhanced computed tomography revealed intact reconstructed vessels. Postoperative transthoracic echocardiography showed no right ventricular overload. The patient’s postoperative clinical course following the surgical procedure was uneventful. Furthermore, the patient was followed up without any complications.ConclusionsThis rare case of successful surgical correction can inform clinicians of similar cases.

Electrophysiologic Considerations in Adult Patients with Ebstein's Anomaly.

Ebstein's anomaly (EA) is a rare cyanotic form of congenital heart disease (CHD) characterized by apical displacement of the tricuspid valve, with resultant hemodynamic and electrical manifestations. The severity of symptoms is determined by the degree of apical displacement and deformity and incompetence of the tricuspid valve. As a result, patients with EA can be severely symptomatic during infancy and childhood or can be incidentally discovered in the sixth or seventh decade of life. Hallmarks of Ebstein's anomaly include progressive cyanosis, right-sided heart failure, and tachyarrhythmias, among which tachyarrhythmias (most commonly atrial, but also ventricular) are the most common presenting symptoms in Ebstein's anomaly patients during adulthood. This review aims to provide insight into the genetic and electrophysiological (EP) basis underlying the tachyarrhythmias encountered when managing patients with EA.

Abstract 4134619: A Novel Missense Mutation in TNNT2 Gene in a Lebanese Pedigree With Ebstein Anomaly And Wolf-Parkinson-White Syndrome: A Case Report

Background: Ebstein anomaly (EA) is a rare congenital heart defect occurring in 1.2 to 5 in 100,000 live births, characterized by a downward displacement of the tricuspid valve, thin-walled right ventricle, and tricuspid valve regurgitation. It can present variably from asymptomatic cases to severe symptoms like arrhythmias and right-sided heart failure. EA is often associated with other anomalies such as interatrial communication and mitral valve prolapse. The condition can lead to accessory atrioventricular pathways, frequently resulting in Wolff-Parkinson-White syndrome (WPW), which involves abnormal heart electrical activity and increases the risk of sudden cardiac death. While the genetic basis of EA is not fully understood, it appears to involve multiple genes like FLNA and NKX2-5, MYH6, MYH7 suggesting a complex polygenic inheritance pattern. TNNT2 is known to be associated with Cardiomyopathy but has not been previously associated with EA and WPW. Case: In this report, we present findings from a lebanese family with EA, comprising 2 affected individuals. Whole exome sequencing in the affected individuals identified a pathogenic variant in the TNNT2 gene at coding strain position 260 (a missense mutation: C to T), resulting in the substitution of Proline with Leucine at position 87 in affected individuals (Figure 1). No variants were detected in any other candidate gene examined. Individuals I:1 and II:2 were found to be normal, with no EA findings on echocardiography. Methods: Whole exome sequencing in the patients involved collecting blood samples after obtaining consent. These samples were sent to Centogene lab, where genomic DNA is enzymatically fragmented. The regions of interest are then enriched using DNA capture probes, facilitating detailed genetic analysis. Results: The whole exome sequencing identified a heterozygous missense mutation in both the father and his daughter. This nonsynonymous variant is located on chromosome 1 (GRCh37) in the TNNT2 gene region. The specific variant, NM_001276345.1:c.260C&gt;T p.(Pro87Leu), was found in both individuals. Conclusion: In conclusion, the genetic basis of EA is rather complex and remains poorly understood. It is established that mutations in the TNNT2 gene are linked to several cardiomyopathies, none of them overlap with the described phenotype of our patients. In this report, we therefore confirm the potential role of TNNT2 gene mutation in the genetic basis of familial EA with WPW.

“End-stage” Constrictive Pericarditis- Stem cell Therapy

Aim: To present a case of ‘end-stage’ constrictive pericarditis with clinical manifestations such as ascites mimicking as cirrhosis of liver. Introduction: ‘End-stage’ constrictive pericarditis has been readily confused with cirrhosis of liver in which there may be ascites, but venous pressure is normal and the neck veins are not engorged. There may be cardiac enlargement in other causes of heart failure. Etiology remains unknown in majority of case and inflammatory process play a central role in its development. Case Report: A 67-year old male presented with sudden onset of tachycardia. Clinical examination revealed right-sided heart failure, ‘Egg-shell’ calcification in Chest X-ray and a characteristic echocardiographicfeatures of pericardial constriction such as septal bounce and dynamic respiratory changes in mitral inflow velocity. The patient was advised medical measures since it is in advanced stage. Conclusion: When clinical signs of right heart failure become unresponsive to increased doses of diuretics, constrictive pericarditis is more likely the underlying disease since severe, right-sided failure develops in very advanced, the end-stage of the disease.

Real-world evidence on pulmonary arterial hypertension: interim analysis from the Italian observational study INSPECTIO

Abstract Background Pulmonary arterial hypertension (PAH) is a rare, progressive disease leading to right-sided heart failure. The interest in risk assessment based on non-invasive parameters is growing, and insights from clinical practice are needed in this regard. INSPECTIO is an Italian observational study aimed at filling this knowledge gap. The results of an interim analysis at month 12 are presented below. Purpose The primary objective was to assess the change from baseline to month 12 in the number of the non-invasive low-risk parameters among World Health Organization functional class, 6-minutes walking distance, Brain Natriuretic Peptide (BNP) or N-terminal proBNP. Secondary objectives are the evaluation of echocardiographic and haemodynamic parameters, and the proportion of patients in which the therapy was optimized according to the guidelines. Methods Prospective, multicentre study on PAH patients at low/intermediate mortality risk treated with macitentan and/or selexipag as part of the oral combination therapy. Results Among 177 patients who were enrolled in 29 centres, 148 patients [median age 63.0 years (Q1/Q3: 53.5/73.0), 76.4% females] completed the 12-month follow up and were considered for this analysis. The median time from PAH diagnosis was 22.6 months (4.9/60.1). Sixty-four (43.2%) patients had idiopathic PAH; 4 (2.7%) heritable; 80 (54.1%) associated with other diseases [58 (72.5%) connective tissue disease, 11 (13.8%) congenital heart disease corrected for at least one year, 5 (6.3%) portal hypertension, 5 (6.3%) human immunodeficiency virus infection, 1 (1.3%) drug and toxins]. At baseline, 45.9% patients and 28.4% were in double and triple oral combination therapy, respectively. Primary objective: at month 12, the number of noninvasive low-risk parameters increased in 43 (29.1%) patients and remained stable in 80 (54.1%) patients [mean change 0.16 (p=0.017)]. The values at baseline, at month 12 and the change from baseline for each noninvasive parameter are shown in Table 1. Mean right atrial (RA) area (end-systole) and tricuspid annular plane systolic excursion (TAPSE) remained unchanged while a reduction of systolic pulmonary artery pressure (sPAP) was observed. Regarding the haemodynamic parameters, the mean pulmonary arterial pressure decreased [median change -4.5, (p=0.0346)], while cardiac index, pulmonary vascular resistance, and RA pressure remained stable (Table 2). The number of patients on triple therapy increased from 42 to 51 (+21.4%). Conclusions This study confirms that a noninvasive low-risk profile can be achieved with current combination PAH therapy. The modest or absent changes in echocardiographic and hemodynamic parameters suggest that treatment of PAH in real world is yet to be improved; on the other hand, the optimization of therapy in a significant portion of patients can possibly account for the improvement or stabilization observed.Noninvasive parametersEcho and hemodynamic parameters

Association of pulsatile venous waveform pattern in the venous studies of lower extremities to 2d-echocardiographic parameters for right heart function and right atrial pressure

Abstract Introduction To date, the detection of pulsatile venous waveform (PVW) pattern in venous duplex scans are read as suggestive of increased central venous pressure (CVP) and/or right-sided heart failure. In the advent of point of care ultrasound, non-invasive measures can be used to determine systemic hemodynamics in emergent clinical settings. Purpose This study aims to determine the association of PVW pattern to echocardiographic parameters of right ventricular (RV) function and right atrial pressure (RAP). Methods A single center retrospective study of adult patients with venous studies of the lower extremities and 2d-echocardiogram done from January 2019 to October 2023. Logistic regression analyses were performed to determine the association of PVW pattern with RV dysfunction based on TAPSE, S’ and FAC, as well as with increased RAP. Results A total of 2086 adult patients were included with median for age of 67 years of which 1141 (55%) were females, and 728 (35%) were hypertensive. PVW pattern was noted from 163 participants (7.8%) of which a higher proportion had heart failure, kidney disease, COVID-19, pneumonia and valvular heart disease. Patients with PVW pattern had a significantly lower median TAPSE [18 (IQR 15-20) vs 20 (IQR 18-22)] and median S’ [11.1 (IQR 8.6-13.20) vs 12.3 (IQR 10.6-14.40)] with FAC 27.1 + 11.9%. Increased RAP was noted in 7% of the study population. Patients with PVW pattern had a higher median inferior vena cava (IVC) diameter [1.9 ( IQR 1.5-2.3) vs 1.5 (IQR 1.3-1.8)] and lower median IVC collapsibility [39.9 (IQR 23.5-51.4) vs 50 (IQR 38.9-58.80]. PVW pattern is significantly associated with TAPSE (crude OR 3.89; CI 2.67-5.66, p&amp;lt;0.0001), S’ (crude OR 3.26, CI 2.30-4.62, p&amp;lt;0.0001) and increased RAP (adjusted OR 6.06, CI 4.02-9.14, p&amp;lt;0.0001). Conclusion Patients with PVW pattern had about 4 times and 3 times higher odds of developing RV systolic dysfunction based on TAPSE and S’, respectively. Its presence confers about 6 times higher odds of developing increased RAP. These parameters can direct further diagnostic work-up and guide assessment of response to decongestive therapy in critical units and other areas where 2d-echocardiogram is not readily accessible.