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Advances in Experimental Medicine and... 2024Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic... (Review)
Review
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt-Oram syndrome.
Topics: Humans; Aorta, Thoracic; Aortic Valve; Abnormalities, Multiple; Heart Defects, Congenital; Bicuspid Aortic Valve Disease; Pulmonary Valve Stenosis; Mutation; Receptor, Notch1; Aortic Valve Disease; Heart Valve Diseases; Calcinosis; Hematologic Diseases; Vestibular Diseases
PubMed: 38884747
DOI: 10.1007/978-3-031-44087-8_45 -
Advances in Experimental Medicine and... 2024d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the... (Review)
Review
d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects. In a simple d-TGA (about two-thirds of patients), there is no other cardiac abnormality other than a patent foramen ovale (PFO) and a patent ductus arteriosus (PDA). In a complex d-TGA additional cardiac abnormalities such as VSD, pulmonary stenosis or coronary abnormalities are present. About one-third to 40% of patients with d-TGA have an associated ventricular septal defect. Among patients with d-TGA, 6% of those with intact ventricular septum and 31% of those with ventricular septal defect have associated pulmonary stenosis. Coronary abnormalities are of importance with regard to the complexity of surgical repair.
Topics: Transposition of Great Vessels; Humans; Infant, Newborn; Heart Septal Defects, Ventricular; Cardiac Surgical Procedures; Pulmonary Valve Stenosis
PubMed: 38884740
DOI: 10.1007/978-3-031-44087-8_38 -
Advances in Experimental Medicine and... 2024Tetralogy of Fallot and double-outlet right ventricle are outflow tract (OFT) alignment defects situated on a continuous disease spectrum. A myriad of upstream causes... (Review)
Review
Tetralogy of Fallot and double-outlet right ventricle are outflow tract (OFT) alignment defects situated on a continuous disease spectrum. A myriad of upstream causes can impact on ventriculoarterial alignment that can be summarized as defects in either i) OFT elongation during looping morphogenesis or ii) OFT remodeling during cardiac septation. Embryological processes underlying these two developmental steps include deployment of second heart field cardiac progenitor cells, establishment and transmission of embryonic left/right information driving OFT rotation and OFT cushion and valve morphogenesis. The formation and remodeling of pulmonary trunk infundibular myocardium is a critical component of both steps. Defects in myocardial, endocardial, or neural crest cell lineages can result in alignment defects, reflecting the complex intercellular signaling events that coordinate arterial pole development. Importantly, however, OFT alignment is mechanistically distinct from neural crest-driven OFT septation, although neural crest cells impact indirectly on alignment through their role in modulating signaling during SHF development. As yet poorly understood nongenetic causes of alignment defects that impact the above processes include hemodynamic changes, maternal exposure to environmental teratogens, and stochastic events. The heterogeneity of causes converging on alignment defects characterizes the OFT as a hotspot of congenital heart defects.
Topics: Tetralogy of Fallot; Animals; Double Outlet Right Ventricle; Humans; Disease Models, Animal; Signal Transduction; Neural Crest; Morphogenesis
PubMed: 38884739
DOI: 10.1007/978-3-031-44087-8_37 -
Advances in Experimental Medicine and... 2024Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular... (Review)
Review
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular septal defect, (2) an obstruction of the right ventricular outflow tract (usually infundibular and valvular pulmonary stenosis with a small pulmonary valve annulus and supravalvular stenosis, (3) an aorta that "overrides" the ventricular septal defect, and (4) right ventricular hypertrophy. TOF represents 4-8% of congenital heart defects. Specific variations of TOF include all forms of pulmonary atresia with VSD and absent pulmonary valve syndrome. In addition, the left and right main pulmonary arteries may be stenotic or hypoplastic. In these cases, there may be major aortopulmonary collateral arteries (MAPCAs) which are vessels arising from the aorta or the subclavian arteries that supply segments of the pulmonary arterial tree. Additional variations include an ASD (Pentalogy of Fallot), a right aortic arch, and coronary abnormalities.
Topics: Tetralogy of Fallot; Humans; Double Outlet Right Ventricle
PubMed: 38884737
DOI: 10.1007/978-3-031-44087-8_35 -
Anatomia, Histologia, Embryologia Jul 2024The gross morphological examination of native caprine heart valves revealed distinctive structural characteristics of the caprine's cardiac anatomy. Four primary... (Comparative Study)
Comparative Study
The gross morphological examination of native caprine heart valves revealed distinctive structural characteristics of the caprine's cardiac anatomy. Four primary orifices were identified, each protected by thin, valve-like structures. Atrioventricular orifices featured tricuspid and bicuspid valves, while the aorta and pulmonary arteries were guarded by semilunar valves. Within the atrioventricular apparatus, distinct features were observed including the tricuspid valve's three leaflets and the bicuspid valve's anterior and posterior leaflets. Ultrasonography provided insights into valve thickness and chordae tendineae lengths. Morphometric studies compared leaflets/cusps within individual native valves, showcasing significant variations in dimensions. Comparative analysis between native and decellularized valves highlighted the effects of decellularization on leaflet thickness and chordae tendineae lengths. Decellularized valves exhibited reduced dimensions compared to native valves, indicating successful removal of cellular components. While some dimensions remained unchanged post-decellularization, significant reductions were observed in leaflet thicknesses and chordae tendineae lengths. Notably, semilunar valve cusps displayed varying responses to decellularization, with significant reductions in cusp lengths observed in the aortic valve, while the pulmonary valve exhibited more subtle changes. These findings underscore the importance of understanding structural alterations in heart valves post-decellularization, providing valuable insights for tissue engineering applications and regenerative medicine.
Topics: Animals; Goats; Heart Valves; Pulmonary Valve; Chordae Tendineae; Aortic Valve; Tricuspid Valve; Ultrasonography; Male
PubMed: 38881030
DOI: 10.1111/ahe.13075 -
Cardiovascular Revascularization... Jun 2024The valve-in-valve transcatheter-aortic-valve-implantation (VIV-TAVI) represents an emerging procedure for the treatment of degenerated aortic bio-prostheses, and the...
AIMS
The valve-in-valve transcatheter-aortic-valve-implantation (VIV-TAVI) represents an emerging procedure for the treatment of degenerated aortic bio-prostheses, and the occurrence of patient-prosthesis mismatch (PPM) after VIV-TAVI might affect its clinical efficacy. This study aimed to test a multimodal imaging approach to predict PPM risk during the TAVI planning phase and assess its clinical predictivity in VIV-TAVI procedures.
METHODS
Consecutive patients undergoing VIV-TAVI procedures at our Institution over 6 years were screened and those treated by self-expandable supra-annular valves were selected. The effective orifice area (EOA) was calculated with a hybrid Gorlin equation combining echocardiographic data with invasive hemodynamic assessment. Severe PPM was defined according to such original multimodality assessment as EOAi≤0.65 cm/m (if BMI < 30 kg/m) or < 0.55 cm/m (if BMI ≥ 30 kg/m). The primary endpoint was a composite of all-cause mortality and valve-related re-hospitalization during the clinical follow-up.
RESULTS
A total of 40 VIV-TAVI was included in the analysis. According to the pre-specified multimodal imaging modality assessment, 18 patients (45.0 %) had severe PPM. Among all baseline clinical and anatomical characteristics, estimated glomerular filtration rate before VIV-TAVI (OR 0.872, 95%CI[0.765-0.994],p = 0.040), the echocardiographic pre-procedural ≥moderate AR (OR 0.023, 95%CI[0.001-0.964],p = 0.048), the MSCT-derived effective internal area (OR 0.958, 95%CI[0.919-0.999],p = 0.046) and the implantation depth (OR 2.050, 95%CI[1.028-4.086],p = 0.041) resulted as independent predictors of severe PPM at multivariable logistic analysis. At a mean follow-up of 630 days, patients with severe PPM showed a higher incidence of the primary endpoint (9.1%vs.44.4 %;p = 0.023).
CONCLUSION
In VIV-TAVI using self-expandable supra-annular valves, a multimodal imaging approach might improve clinical outcome predicting severe PPM occurrence.
PubMed: 38880697
DOI: 10.1016/j.carrev.2024.06.012 -
Renal Failure Dec 2024Recent accumulating evidence has recently documented a significant prevalence of right ventricular dysfunction (RVD) in end-stage renal disease (ESRD) patients....
AIMS
Recent accumulating evidence has recently documented a significant prevalence of right ventricular dysfunction (RVD) in end-stage renal disease (ESRD) patients. Tricuspid annular plane systolic excursion (TAPSE)/pulmonary-artery systolic pressure (PASP) ratio assessed with echocardiography might be a useful clinical index of right ventricular (RV) -pulmonary arterial (PA) coupling. The current study aimed to investigate the value of the TAPSE/PASP ratios in patients on maintenance hemodialysis (MHD).
METHODS
We studied 83 times echocardiographic tests from 68 patients with MHD. The associations of TAPSE/PASP ratios with echocardiography variables, clinical characteristics, and biochemical parameters were analyzed, as well as the associations of TAPSE/PASP ratios with odds of all-cause mortality, cardiovascular disease (CVD) events and frequent intermittent dialysis hypotension (IDH).
RESULTS
Correlation analysis showed TAPSE/PASP ratios positively correlated with LVEF and negatively correlated with E/A and E/e' values. For clinical and biochemical parameters, TAPSE/PASP ratios negatively correlated with BNP, NT-proBNP, age, CRP, and average interdialysis weight gain (ΔBW) and positively correlated with albumin. Logistic regression analysis, which induced the TAPSE/PASP ratio as a continuous variable (per 0.1 mm/mmHg increase), identified that the TAPSE/PASP ratio was associated with decreased CVD events (OR 0.386 [95% CI 0.231-0.645], < 0.001) and frequent IDH odds (OR 0.571 [95% CI 0.397-0.820], = 0.002). Moreover, the TAPSE/PASP ratio independently predicted CVD events (adjusted HR 0.539 [95% CI 0.391-0.743], < 0.001) during a follow-up period of 12 months.
CONCLUSIONS
RVD, assessed by echocardiography TAPSE/PASP ratio, was found to be associated with increased risks of CVD events and frequent IDH in patients with MHD.
Topics: Humans; Male; Female; Renal Dialysis; Ventricular Dysfunction, Right; Middle Aged; Aged; Kidney Failure, Chronic; Echocardiography; Cardiovascular Diseases; Retrospective Studies; Pulmonary Artery; Logistic Models; Tricuspid Valve
PubMed: 38874087
DOI: 10.1080/0886022X.2024.2364766 -
Current Vascular Pharmacology Jun 2024Coronavirus disease 2019 (COVID-19) has been the biggest pandemic in history, with severe complications, such as acute respiratory distress syndrome and pulmonary... (Clinical Trial)
Clinical Trial
INTRODUCTION/OBJECTIVE
Coronavirus disease 2019 (COVID-19) has been the biggest pandemic in history, with severe complications, such as acute respiratory distress syndrome and pulmonary hypertension (PH). An endothelin-1 (ET-1) receptor antagonist, such as bosentan, may be beneficial in treating elevated ET-1 levels. Hence, our study aimed to evaluate the therapeutic effects of bosentan in patients with COVID-19-induced PH.
METHODS
A single-centre, randomized, double-blind study involving 72 participants was carried out; 36 received bosentan and the other 36 received a placebo. Pulmonary arterial pressure, tricuspid valve pressure gradient, and right atrial pressure were measured using echocardiography. The Cox proportional hazards regression model was used to investigate the impact of bosentan and patients' age on mortality during a 6-month follow-up period.
RESULTS
In-hospital mortality was significantly lower in the case group (13%) compared with the control group (33.3%) (P=0.003). Additionally, bosentan improved echocardiographic parameters, such as systolic pulmonary artery pressure and tricuspid regurgitation gradient (P=0.011 and P=0.003, respectively). Bosentan use was a significant predictor of long-term mortality rates for 600 days [age-adjusted hazard ratio of 5.24 (95% CI 1.34 to 20.46)].
CONCLUSION
This study provided a mixed perspective on the use of bosentan therapy in patients with COVID-19-related PH. Bosentan effectively reduced in-hospital mortality and improved echocardiographic measures. However, the treatment group showed an increased requirement for supplemental oxygen therapy and long-term mortality. Further studies with larger sample sizes are necessary to elucidate the effects of bosentan in PH following COVID-19.
PubMed: 38874033
DOI: 10.2174/0115701611299843240607061547 -
BMC Cardiovascular Disorders Jun 2024Studies of transcatheter pulmonary valve replacement (TPVR) with the Melody valve have demonstrated good clinical and hemodynamic outcomes. Our study analyzes the...
BACKGROUND
Studies of transcatheter pulmonary valve replacement (TPVR) with the Melody valve have demonstrated good clinical and hemodynamic outcomes. Our study analyzes the midterm clinical and hemodynamic outcomes for patients who underwent Melody valve implantation in Southeast Asia.
METHODS
Patients with circumferential conduits or bioprosthetic valves and experiencing post-operative right ventricular outflow tract (RVOT) dysfunction were recruited for Melody TPVR.
RESULTS
Our cohort (n = 14) was evenly divided between pediatric and adult patients. The median age was 19 years (8-38 years), a male-to-female ratio of 6:1 with a median follow-up period of 48 months (16-79 months), and the smallest patient was an 8-year-old boy weighing 18 kg. All TPVR procedures were uneventful and successful with no immediate mortality or conduit rupture. The primary implant indication was combined stenosis and regurgitation. The average conduit diameter was 21 ± 2.3 mm. Concomitant pre-stenting was done in 71.4% of the patients without Melody valve stent fractures (MSFs). Implanted valve size included 22-mm (64.3%), 20-mm (14.3%), and 18-mm (21.4%). After TPVR, the mean gradient across the RVOT was significantly reduced from 41 mmHg (10-48 mmHg) to 16 mmHg (6-35 mmHg) at discharge, p < 0.01. Late follow-up infective endocarditis (IE) was diagnosed in 2 patients (14.3%). Overall freedom from IE was 86% at 79 months follow-up. Three patients (21.4%) developed progressive RVOT gradients.
CONCLUSION
For patients in Southeast Asia with RVOT dysfunction, Melody TPVR outcomes are similar to those reported for patients in the US in terms of hemodynamic and clinical improvements. A pre-stenting strategy was adopted and no MSFs were observed. Post-implantation residual stenosis and progressive stenosis of the RVOT require long term monitoring and reintervention. Lastly, IE remained a concern despite vigorous prevention and peri-procedural bacterial endocarditis prophylaxis.
Topics: Humans; Male; Child; Heart Valve Prosthesis; Female; Heart Valve Prosthesis Implantation; Adolescent; Pulmonary Valve; Treatment Outcome; Hemodynamics; Young Adult; Prosthesis Design; Cardiac Catheterization; Time Factors; Adult; Recovery of Function; Pulmonary Valve Insufficiency; Bioprosthesis; Pulmonary Valve Stenosis; Retrospective Studies; Risk Factors; Asia, Southeastern
PubMed: 38872098
DOI: 10.1186/s12872-024-03919-7 -
The Annals of Thoracic Surgery Jun 2024In this invited expert review, we focus on evolving lifetime management strategies for adolescents and young adults with congenital aortic valve disease, acknowledging... (Review)
Review
In this invited expert review, we focus on evolving lifetime management strategies for adolescents and young adults with congenital aortic valve disease, acknowledging that these patients often require multiple interventions during their lifetime. Our goal is to preserve the native aortic valve when feasible. Leveraging advanced multimodality imaging, a detailed assessment of the aortic valve and root complex can be obtained, and a surgical approach tailored to an individual patient's anatomy and pathology can be employed. In turn, aortic valve repair and reconstruction can be offered to a greater number of patients, either as a definitive strategy or as a component of a staged strategy to delay the need for aortic valve replacement until later in life when more options are available. In adolescents and young adults with unrepairable aortic valve disease, our preferred strategies are aortic valve replacement with pulmonary autograft (Ross procedure) or autologous pericardium (Ozaki procedure). Aortic valve replacement with a bioprosthetic or mechanical valve is a safe and reproducible option reserved as a "last resort" in adolescents and young adults due to the cumulative lifetime risk of valve-related complications and ongoing attrition of these patients during follow-up.
PubMed: 38871162
DOI: 10.1016/j.athoracsur.2024.04.038