Quadricuspid Aortic Valve With Ostium Secundum Atrial Septal Defect.
Ontology highlight
ABSTRACT:
SUBMITTER: Garg A
PROVIDER: S-EPMC6710822 | biostudies-other | 2019 Aug
REPOSITORIES: biostudies-other
Similar Datasets
Project description: Not available
| S-EPMC9263154 | biostudies-literature
Project description: Not available
| S-EPMC9270672 | biostudies-literature
Project description:Previous studies have identified an increased incidence of bicuspid aortic valve (BAV) in patients with ventricular septal defect (VSD). Because endocardial cushion remodeling contributes to both the formation of semilunar valves and ventricular septation, we hypothesized that examination of humans with BAV and VSD would identify a specific VSD type. We evaluated VSD type in pediatric patients diagnosed with BAV and VSD (n=82) and compared findings to patients diagnosed with VSD and normal aortic valve morphology (n=429). VSD type was described as conoventricular, muscular, inlet or conoseptal using a clinical taxonomy. Based on the contribution of the outflow tract endocardial cushions to the membranous ventricular septum, we expected patients with BAV to have conoventricular VSD. In both patient groups, conoventricular VSD was most common; however, the prevalence was not significantly different when BAV patients were compared to those with normal aortic valve morphology (67% vs. 57%, P=0.11). The primary finding of this study is that despite a developmental link between semilunar valve formation and ventricular septation during cardiogenesis, there is no clear association between BAV and VSD type. This may be due to phenotypic and genetic heterogeneity of BAV and VSD, other modifying factors as manifested by differences in associated CVM, as well as limitations of the clinical taxonomy of VSD.
| S-EPMC2644069 | biostudies-literature
Project description:Transcatheter aortic valve implantation (TAVI) has been increasingly used in symptomatic patients with severe aortic stenosis who are at high risk for conventional open heart surgery. However, it might be associated with serious complications. We report a case with an iatrogenic ventricular septal defect as a rare complication following TAVI procedure. <Learning objective: To highlight a rare complication of iatrogenic ventricular septal defect (VSD) following transcatheter aortic valve implantation procedure and its treatment with percutaneous interventional VSD closure.>.
| S-EPMC6149284 | biostudies-literature
Project description:BACKGROUND:Bicuspid aortic valve is the most common congenital valvular heart defect in the general population. BAV is associated with significant morbidity due to valve failure, formation of thoracic aortic aneurysm, and increased risk of infective endocarditis and aortic dissection. Loss of function mutations in NOTCH1 (OMIM 190198) has previously been associated with congenital heart disease involving the aortic valve, left ventricle outflow tract, and mitral valve that segregates in affected pedigrees as an autosomal dominant trait with variable expressivity. METHODS:We performed whole-exome sequencing in four members of a three-generational family (three affected and one unaffected subject) with clinical phenotypes including aortic valve stenosis, thoracic aortic aneurysm, and ventricular septal defect. RESULTS:We identified 16 potentially damaging genetic variants (one stop variant, one splice variant, and 14 missense variants) cosegregating with the phenotype. Of these variants, the nonsense mutation (p.Tyr291*) in NOTCH1 was the most deleterious variant identified and the most likely variant causing the disease. CONCLUSION:Inactivating NOTCH1 mutations are a rare cause of familial heart disease involving predominantly left ventricular outflow tract lesions and characterized by the heterogeneity of clinical phenotype.
| S-EPMC7549557 | biostudies-literature
Project description:IntroductionAlthough totally endoscopic surgery (TES) has been widely applied for the treatment of atrial septal defect (ASD), small children receive few benefits from this technique due to risks of the femoral cannulation.Case presentationA 23-month-old boy, weighing 10.5?kg, with the diagnosis of sinus venosus ASD underwent successful repair by TES. We performed this surgery through 4 small trocars (one 12?mm trocar and three 5?mm trocars), without robotic assistance. In this case, we inserted the arterial cannula directly into the ascending aorta instead of the femoral artery (FA). The defects were repaired on the beating heart with CO2 insufflation.DiscussionFemoral cannulation in small children pose some risks, such as increased arterial line pressure, critical lower limb ischaemia, and post-operative iliac or femoral arterial stenosis. Putting the arterial cannula directly into the ascending aorta is a good solution but is difficult to be performed through TES, especially in small children. The major concern of operating on the beating heart is the air embolism, which requires special preventative methods.ConclusionTransthoracic aortic cannulation may facilitate TES in small children. However, the safety and efficacy of this approach needs to be validated by larger studies preferably randomised controlled trials.
| S-EPMC6197332 | biostudies-literature
Project description:Right atrial (RA) aneurysms are rare entities reported in the literature. Affected patients are usually asymptomatic, but sometimes, they tend to present with arrhythmias or even heart failure if big. They may form a nidus for thrombus formation and subsequent thromboembolic complications. We report a coincidental finding of a RA aneurysm in a 22-year-old female with the atrial septal defect and mitral valve prolapse, causing moderate mitral regurgitation. The aneurysm was detected incidentally on transesophageal echo after anesthetic induction for elective surgery of the primary pathology. The mitral valve was repaired, and the atrial septal defect was closed. The aneurysm was excised in toto and RA wall repaired.
| S-EPMC7799074 | biostudies-literature
Project description:BackgroundTranscatheter aortic valve implantation (TAVI) has proven efficacy in the treatment of aortic stenosis (AS). Understandably, there is increasing enthusiasm for its use to treat aortic regurgitation (AR). However, there are significant anatomical differences between AS and AR which make TAVI for AR more complex.Case summaryWe present the case of technically challenging TAVI for severe AR, which was complicated by a traumatic ventricular septal defect (VSD) that required percutaneous closure. To our knowledge, this is the first published case of VSD post-TAVI for AR.DiscussionThis unanticipated complication highlights anatomical differences between TAVI use in AS and AR. Lack of aortic valve calcification and excessive annular compliance made stable deployment of a self-expanding valve extremely challenging. Despite device oversizing, repeated embolization of the prosthesis into the left ventricular outflow tract traumatized the interventricular septum.
| S-EPMC8564692 | biostudies-literature
Project description:BackgroundA rare, but serious, complication following transcatheter aortic valve replacement (TAVR) is the occurrence of an iatrogenic ventricular septal defect (VSD).Case summaryWe describe a case of an 80-year-old female who was referred with severe aortic stenosis for TAVR. Following thorough evaluation, the heart team consensus was to proceed with implantation via a transapical approach of an ACURATE neo M 25 mm valve (Boston Scientific, Natick, MA, USA). The valve was deployed harnessing transoesophageal echocardiographic (TOE) guidance under rapid pacing with post-dilation. Directly afterwards a very high VSD close to the aortic annulus was detected. As the patient was haemodynamically stable, the procedure was ended. The next day another TOE revealed a shunt volume (left-to-right ventricle) between 50% and 60%. Because the defect was partly located between the stent struts of the ACURATE valve decision was made to fix this leakage with implantation of a further valve and we chose an EVOLUT Pro 29 mm (Medtronic Inc., Minneapolis, MN, USA). The valve-in-valve was implanted 2-3 mm below the lower edge of the first valve, more towards the left ventricular outflow tract (LVOT) with excellent result: VSD was reduced to a very small residual shunt without any hemodynamic relevance. Figure 3(A) Fluoroscopic image after transapical transcatheter aortic valve replacement (ACURATE neo M); (B) transoesophageal echocardiography following transapical transcatheter aortic valve replacement showing a severe ventricular septal defect; (C) angiography after valve-in-valve implantation. The implantation depth of the second valve (EVOLUT Pro 29 mm) was slightly deeper in the left ventricular outflow tract; and (D) transoesophageal echocardiography after the valve-in-valve procedure showing a small residual shunt. (1) Stentstruts, (2) tricuspid valve, and (3) leakage (ventricular septal defect). *Pulmonary artery catheter, #Pleural drain.Figure 4Left ventricular angiogram after valve-in-valve implantation showing a very small residual contrast shunt from the left-to-right ventricle (encircled). *Pulmonary artery catheter, # Pleural drain.DiscussionWe suggest that an iatrogenic VSD located near the annulus may be treated percutaneously in a bail-out situation with implantation of a second valve that should be implanted slightly more into the LVOT to cover the VSD.
| S-EPMC8117460 | biostudies-literature
Project description:Background Delayed brain development, brain injury, and neurodevelopmental disabilities are commonly observed in infants operated for complex congenital heart defect. Our previous findings of poorer neurodevelopmental outcomes in individuals operated for simple congenital heart defects calls for further etiological clarification. Hence, we examined the microstructural tissue composition in cerebral cortex and subcortical structures in comparison to healthy controls and whether differences were associated with neurodevelopmental outcomes. Methods and Results Adults (n=62) who underwent surgical closure of an atrial septal defect (n=33) or a ventricular septal defect (n=29) in childhood and a group of healthy, matched controls (n=38) were enrolled. Brain diffusional kurtosis imaging and neuropsychological assessment were performed. Cortical and subcortical tissue microstructure were assessed using mean kurtosis tensor and mean diffusivity and compared between groups and tested for associations with neuropsychological outcomes. Alterations in microstructural tissue composition were found in the parietal, temporal, and occipital lobes in the congenital heart defects, with distinct mean kurtosis tensor cluster-specific changes in the right visual cortex (pericalcarine gyrus, P=0.002; occipital part of fusiform and lingual gyri, P=0.019). Altered microstructural tissue composition in the subcortical structures was uncovered in atrial septal defects but not in ventricular septal defects. Associations were found between altered cerebral microstructure and social recognition and executive function. Conclusions Children operated for simple congenital heart defects demonstrated altered microstructural tissue composition in the cerebral cortex and subcortical structures during adulthood when compared with healthy peers. Alterations in cerebral microstructural tissue composition were associated with poorer neuropsychological performance. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT03871881.
| S-EPMC9238637 | biostudies-literature