-
The Turkish Journal of Pediatrics May 2024Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery....
BACKGROUND
Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery. The present study aimed to provide a detailed evaluation of the features of surgical procedures and outcomes of patients with WS given as single-center experience, and additionally to make a detailed review from Türkiye.
MATERIALS AND METHODS
Thirty-five children with WS diagnosed between the years 1992 and 2021 were evaluated retrospectively including cardiovascular data, surgical treatment features, and outcomes. A total of six articles from Türkiye were evaluated.
RESULTS
A total of 35 patients with Williams Syndrome (24 male) with a median age of cardiologic diagnosis of 6 months (range, 2 days-6 years) were evaluated. The cardiac defects of the patients with WS were found as supravalvular aortic stenosis (SVAS) (n=30, 85%) and peripheral pulmonary stenosis (PPS) (n=21, 65%). Additional cardiac anomalies were seen in 71% patients. The rate of SVAS and PPS surgery in all patients with WS was 77.1%. The median surgical age of the patients was 2.5 years (range, 7 months-15.5 years). No patients died due to surgery. But one patient died because of ventricular tachycardia due to anesthesia at the beginning of angiography. A total of 138 (63% male) patients with WS were evaluated from the articles published in Türkiye. Of 138 patients, 64.4% had SVAS, 52.1% had PPS, and 39.8% had additional cardiac anomaly. The median follow-up period ranged from 17 months to 18 years, and six (4.3%) patients died in the early postoperative period.
CONCLUSION
Cardiovascular system involvement is extremely common and is the leading cause of morbidity and mortality in patients with WS, often requiring surgical intervention. As seen in our study including 35 patients with WS and in publications from Türkiye, SVAS in patients with WS generally requires surgery, especially in the first year of life. PPS, on the other hand, requires surgery less frequently than SVAS, and pulmonary stenosis appears to decrease over time.
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Follow-Up Studies; Heart Defects, Congenital; Retrospective Studies; Turkey; Williams Syndrome; Adolescent
PubMed: 38814298
DOI: 10.24953/turkjpediatr.2024.4591 -
Turkish Journal of Medical Sciences 2023Despite advancements in valve technology and increased clinical experience, complications related to conduction defects after transcatheter aortic valve implantation...
BACKGROUND/AIM
Despite advancements in valve technology and increased clinical experience, complications related to conduction defects after transcatheter aortic valve implantation (TAVR) have not improved as rapidly as expected. In this study, we aimed to predict the development of complete atrioventricular (AV) block and bundle branch block during and after the TAVR procedure and to investigate any changes in the cardiac conduction system before and after the procedure using electrophysiological study.
MATERIALS AND METHODS
A total of 30 patients who were scheduled for TAVR at our cardiovascular council were planned to be included in the study. TAVR was performed on patients at Erciyes University Medical Faculty Hospital as a single center between May 2019 and August 2020 Diagnostic electrophysiological study was performed before the TAVR procedure and after its completion. Changes in the cardiac conduction system during the preprocedure, intra-procedure, and postprocedure periods were recorded.
RESULTS
Significant increases in baseline cycle length, atrial-His (AH) interval, his-ventricular (HV) interval and atrioventricular (AV) distance were observed before and after the TAVR procedure (p = 0.039, p < 0.001, p = 0.018, p < 0.001, respectively). During the TAVR procedure, the preprocedural HV interval was longer in patients who developed AV block and bundle branch block compared to those who did not and this difference was statistically significant (p = 0.024). ROC curve analysis revealed that a TAVR preprocedure HV value >59.5 ms had 86% specificity and 75% sensitivity in detecting AV block and bundle branch block (AUC = 0.83, 95% CI: 0.664-0.996, p = 0.013). The preprocedure HV distance was 98 ± 10.55ms in the group with permanent pacemaker implantation and the mean value in the group without permanent pacemaker implantation was 66.27 ± 15.55 ms, showing a borderline significant difference (p = 0.049).
CONCLUSION
The prolongation of HV interval in patients with AV block and bundle branch block suggests that the block predominantly occurs at the infra-hisian level. Patients with longer preprocedural HV intervals should be closely monitored for the need for permanent pacemaker implantation after the TAVR procedure.
Topics: Humans; Transcatheter Aortic Valve Replacement; Male; Female; Pacemaker, Artificial; Aged; Aged, 80 and over; Atrioventricular Block; Bundle-Branch Block; Aortic Valve Stenosis; Electrocardiography; Postoperative Complications; Heart Conduction System
PubMed: 38813482
DOI: 10.55730/1300-0144.5750 -
Turkish Journal of Medical Sciences 2023Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a...
BACKGROUND/AIM
Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients.
MATERIALS AND METHODS
The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II).
RESULTS
A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 ± 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 ± 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems.
CONCLUSION
This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.
Topics: Humans; Williams Syndrome; Female; Child, Preschool; Male; Infant; Retrospective Studies; Adaptation, Psychological; Child; Child Development
PubMed: 38812996
DOI: 10.55730/1300-0144.5701 -
European Heart Journal Open May 2024With the 2022 pulmonary hypertension (PH) definition, the mean pulmonary artery pressure (mPAP) threshold for any PH was lowered from ≥25 to >20 mmHg, and the...
AIMS
With the 2022 pulmonary hypertension (PH) definition, the mean pulmonary artery pressure (mPAP) threshold for any PH was lowered from ≥25 to >20 mmHg, and the pulmonary vascular resistance (PVR) value to differentiate between isolated post-capillary PH (IpcPH) and combined pre- and post-capillary PH (CpcPH) was reduced from >3 Wood units (WU) to >2 WU. We assessed the impact of this change in the PH definition in aortic stenosis (AS) patients undergoing aortic valve replacement (AVR).
METHODS AND RESULTS
Severe AS patients ( = 503) undergoing pre-AVR cardiac heart catheterization were classified according to both the 2015 and 2022 definitions. The post-AVR mortality [median follow-up 1348 (interquartile range 948-1885) days] was assessed. According to the 2015 definition, 219 (44% of the entire population) patients had PH: 63 (29%) CpcPH, 125 (57%) IpcPH, and 31 (14%) pre-capillary PH. According to the 2022 definition, 321 (+47%) patients were diagnosed with PH, and 156 patients (31%) were re-classified: 26 patients from no PH to IpcPH, 38 from no PH to pre-capillary PH, 38 from no PH to unclassified PH, 4 from pre-capillary PH to unclassified PH, and 50 from IpcPH to CpcPH (CpcPH: +79%). With both definitions, only the CpcPH patients displayed increased mortality (hazard ratios ≈ 4). Among the PH-defining haemodynamic components, PVR was the strongest predictor of death.
CONCLUSION
In severe AS, the application of the 2022 PH definition results in a substantially higher number of patients with any PH as well as CpcPH. With either definition, CpcPH patients have a significantly increased post-AVR mortality.
PubMed: 38812478
DOI: 10.1093/ehjopen/oeae037 -
European Heart Journal Open May 2024There is a lack of robust data on the optimal medical treatment of heart failure in patients with severe aortic stenosis, with no randomized controlled trials guiding...
Medical treatment of heart failure with renin-angiotensin-aldosterone system inhibitors and beta-blockers in aortic stenosis: association with long-term outcome after aortic valve replacement.
AIMS
There is a lack of robust data on the optimal medical treatment of heart failure in patients with severe aortic stenosis, with no randomized controlled trials guiding treatment. The study aimed to study the association between exposure to renin-angiotensin-aldosterone system (RAS) inhibitors or beta-blockers and outcome after aortic valve replacement in patients with aortic stenosis and heart failure.
METHODS AND RESULTS
The study included all patients with heart failure undergoing aortic valve replacement for aortic stenosis in Sweden between 2008 and 2016 ( = 4668 patients). Exposure to treatment was assessed by a continuous tracking of drug dispensations, and outcome events were all-cause mortality and hospitalization for heart failure collected from national patient registries. After adjustment for age, sex, atrial fibrillation, hypertension, diabetes mellitus, and prior myocardial infarction, Cox regression analysis showed that RAS inhibition was associated with a lower risk of all-cause mortality in patients with reduced left ventricular ejection fraction (LV-EF) [hazard ratio (HR) 0.58, 95% confidence interval (CI) 0.51-0.65] and preserved LV-EF (HR 0.69, 95% CI 0.56-0.85). Beta-blockade was associated with a lower risk of all-cause mortality in patients with reduced LV-EF (HR 0.81, 95% CI 0.71-0.92), but not in preserved LV-EF (HR 0.87, 95% CI 0.69-1.10). There was no association between RAS inhibition or beta-blockade and the risk of hospitalization for heart failure.
CONCLUSION
The RAS inhibition was associated with a lower all-cause mortality after valve replacement in patients with both reduced and preserved LV-EF. Beta-blockade was associated with lower all-cause mortality only in patients with reduced LV-EF.
PubMed: 38812477
DOI: 10.1093/ehjopen/oeae039 -
Journal of Cardiothoracic Surgery May 2024Quadricuspid aortic valve (QAV) is a rare congenital anomaly characterized by the presence of four cusps instead of the usual three. It is estimated to occur in less...
BACKGROUND
Quadricuspid aortic valve (QAV) is a rare congenital anomaly characterized by the presence of four cusps instead of the usual three. It is estimated to occur in less than 0.05% of the population, with Type A (four equal-sized leaflets) accounting for roughly 30% of QAV subtypes. Based on limited clinical series, the usual presentation is progressive aortic valve regurgitation (AR) with symptoms occurring in the fourth to sixth decade of life. Severe aortic valve stenosis (AS) and acute AR are very uncommon.
CASE PRESENTATION
We describe two cases of Type A QAV in patients who remained asymptomatic until their seventies with very uncommon presentations: one with severe AS and one with acute, severe AR and flail leaflet. In Case A, a 72-year-old patient with history of moderate AS presents to clinic with progressive exertional dyspnea. During work-up for transcatheter vs. surgical replacement pre-operative computed tomography angiogram (CTA) reveals a quadricuspid aortic valve with severe AS, and the patient undergoes surgical aortic valve replacement. Pre-discharge transthoracic echocardiography (TTE) shows good prosthetic valve function with no gradient or regurgitation. In Case B, a 76-year-old patient is intubated upon arrival to the hospital for acute desaturation, found to have wide open AR on catheterization, and transferred for emergent intervention. Intraoperative TEE reveals QAV with flail leaflet and severe AR. Repair is considered but deferred ultimately due to emergent nature. Post-operative TTE demonstrates good prosthetic valve function with no regurgitation and normal biventricular function.
CONCLUSIONS
QAV can present as progressive severe AS and acute AR, with symptoms first occurring in the seventh decade of life. The optimal treatment for QAV remains uncertain. Although aortic valve repair or transcatheter option may be feasible in some patients, aortic valve replacement remains a tenable option.
Topics: Humans; Aged; Aortic Valve; Male; Aortic Valve Stenosis; Aortic Valve Insufficiency; Echocardiography; Female; Heart Valve Prosthesis Implantation
PubMed: 38812010
DOI: 10.1186/s13019-024-02696-w -
BMC Cardiovascular Disorders May 2024Sudden cardiac death (SCD) is a major public health issue worldwide. In the young (< 40 years of age), genetic cardiomyopathies and viral myocarditis, sometimes in...
Sudden cardiac death (SCD) is a major public health issue worldwide. In the young (< 40 years of age), genetic cardiomyopathies and viral myocarditis, sometimes in combination, are the most frequent, but underestimated, causes of SCD. Molecular autopsy is essential for prevention. Several studies have shown an association between genetic cardiomyopathies and viral myocarditis, which is probably underestimated due to insufficient post-mortem investigations. We report on four autopsy cases illustrating the pathogenesis of these combined pathologies. In two cases, a genetic hypertrophic cardiomyopathy was diagnosed in combination with Herpes Virus Type 6 (HHV6) and/or Parvovirus-B19 (PVB19) in the heart. In the third case, autopsy revealed a dilated cardiomyopathy and virological analyses revealed acute myocarditis caused by three viruses: PVB19, HHV6 and Epstein-Barr virus. Genetic analyses revealed a mutation in the gene coding for desmin. The fourth case illustrated a channelopathy and a PVB19/HHV6 coinfection. Our four cases illustrate the highly probable deleterious role of cardiotropic viruses in the occurrence of SCD in subjects with genetic cardiomyopathies. We discuss the pathogenetic link between viral myocarditis and genetic cardiomyopathy. Molecular autopsy is essential in prevention of these SCD, and a close collaboration between cardiologists, pathologists, microbiologists and geneticians is mandatory.
Topics: Humans; Myocarditis; Death, Sudden, Cardiac; Autopsy; Male; Adult; Female; Herpesvirus 6, Human; Parvovirus B19, Human; Cardiomyopathy, Dilated; Roseolovirus Infections; Cardiomyopathy, Hypertrophic; Parvoviridae Infections; Young Adult; Genetic Predisposition to Disease; Fatal Outcome; Epstein-Barr Virus Infections; Herpesvirus 4, Human; Coinfection; Cause of Death; Mutation; Middle Aged
PubMed: 38811883
DOI: 10.1186/s12872-024-03913-z -
Scientific Reports May 2024Calcification of aortic valve leaflets is a growing mortality threat for the 18 million human lives claimed globally each year by heart disease. Extensive research has...
Calcification of aortic valve leaflets is a growing mortality threat for the 18 million human lives claimed globally each year by heart disease. Extensive research has focused on the cellular and molecular pathophysiology associated with calcification, yet the detailed composition, structure, distribution and etiological history of mineral deposition remains unknown. Here transdisciplinary geology, biology and medicine (GeoBioMed) approaches prove that leaflet calcification is driven by amorphous calcium phosphate (ACP), ACP at the threshold of transformation toward hydroxyapatite (HAP) and cholesterol biomineralization. A paragenetic sequence of events is observed that includes: (1) original formation of unaltered leaflet tissues: (2) individual and coalescing 100's nm- to 1 μm-scale ACP spherules and cholesterol crystals biomineralizing collagen fibers and smooth muscle cell myofilaments; (3) osteopontin coatings that stabilize ACP and collagen containment of nodules preventing exposure to the solution chemistry and water content of pumping blood, which combine to slow transformation to HAP; (4) mm-scale nodule growth via ACP spherule coalescence, diagenetic incorporation of altered collagen and aggregation with other ACP nodules; and (5) leaflet diastole and systole flexure causing nodules to twist, fold their encasing collagen fibers and increase stiffness. These in vivo mechanisms combine to slow leaflet calcification and establish previously unexplored hypotheses for testing novel drug therapies and clinical interventions as viable alternatives to current reliance on surgical/percutaneous valve implants.
Topics: Calcium Phosphates; Humans; Aortic Valve; Osteopontin; Calcinosis; Collagen; Durapatite; Aortic Valve Stenosis; Cholesterol
PubMed: 38806601
DOI: 10.1038/s41598-024-62962-8 -
Circulation May 2024Ascending aorta dilation and aortic valve degeneration are common complications in patients with bicuspid aortic valve. Several retrospective studies have suggested the...
BACKGROUND
Ascending aorta dilation and aortic valve degeneration are common complications in patients with bicuspid aortic valve. Several retrospective studies have suggested the benefit of statins in reducing these complications. This study aimed to determine whether atorvastatin treatment is effective in reducing the growth of aortic diameters in bicuspid aortic valve and if it slows the progression of valve calcification.
METHODS
In a randomized clinical trial, 220 patients with bicuspid aortic valve (43 women; 46±13 years of age) were included and treated with either 20 mg of atorvastatin per day or placebo for 3 years. Inclusion criteria were ≥18 years of age, nonsevere valvular dysfunction, nonsevere valve calcification, and ascending aorta diameter ≤50 mm. Computed tomography and echocardiography studies were performed at baseline and after 3 years of treatment.
RESULTS
During follow-up, 28 patients (12.7%) discontinued medical treatment (15 on atorvastatin and 13 taking placebo). Thus, 192 patients completed the 36 months of treatment. Low-density lipoprotein cholesterol levels decreased significantly in the atorvastatin group (median [interquartile range], -30 mg/dL [-51.65 to -1.75 mg/dL] versus 6 mg/dL [-4, 22.5 mg/dL]; <0.001). The maximum ascending aorta diameter increased with no differences between groups: 0.65 mm (95% CI, 0.45-0.85) in the atorvastatin group and 0.74 mm (95% CI, 0.45-1.04) in the placebo group (=0.613). Similarly, no significant differences were found for the progression of the aortic valve calcium score (=0.167) or valvular dysfunction.
CONCLUSIONS
Among patients with bicuspid aortic valve without severe valvular dysfunction, atorvastatin treatment was not effective in reducing the progression of ascending aorta dilation and aortic valve calcification during 3 years of treatment despite a significant reduction in low-density lipoprotein cholesterol levels.
REGISTRATION
URL: https://www.clinicaltrialsregister.eu; Unique identifier: 2015-001808-57; URL: https://www.clinicaltrials.gov; Unique identifier: NCT02679261.
PubMed: 38804148
DOI: 10.1161/CIRCULATIONAHA.123.067537 -
Cureus Apr 2024We sought to determine whether there is a relationship between the fluoroscopic working angle used to achieve a co-planar view during the deployment of the prosthesis...
BACKGROUND
We sought to determine whether there is a relationship between the fluoroscopic working angle used to achieve a co-planar view during the deployment of the prosthesis during transcatheter aortic valve implantation (TAVI) and rates of complications, including paravalvular leaks, complete heart block, annular rupture, stroke, valve embolization, discharge to a skilled nursing facility and death within thirty days.
METHODS
All patients undergoing TAVI at our institution from 2015 to 2022 were retrospectively analyzed. Images were reviewed to determine the fluoroscopic working angle during deployment, and medical records were used to determine the incidence and type of complication. A multilayer perceptron was employed to evaluate the predictive ability of the fluoroscopic working angle during deployment on complications of one-day and 30-day paravalvular leak, 30-day mortality, the need for a new pacemaker, discharge to a skilled nursing facility, stroke and the requirement for emergency intervention.
RESULTS
Eight hundred and thirty-four patients were included in the study. Fluoroscopic working angle had excellent predictive value for stroke (area under the receiver operating characteristic curve (AUROC) of 0.812), one-day (AUROC 0.850), and 30-day paravalvular leak (AUROC 0.801). However, feature importance and scaled weighting analysis indicated that only a working angle in the left anterior oblique/cranial quadrant was informative for the development of an outcome of interest specific to a working angle quadrant (30-day paravalvular leak).
CONCLUSION
Fluoroscopic working angle may be a useful way to further refine well-established risk calculi during TAVI.
PubMed: 38803728
DOI: 10.7759/cureus.59144