Complex Congenital Heart Disease: Gerbode Defect With a Bicuspid Aortic Valve and Coarctation of the Aorta
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SUBMITTER: Quien M
PROVIDER: S-EPMC10307586 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
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Project description:Gerbode defect is a rare type of left ventricle to right atrium shunt. It is usually congenital in origin, but acquired cases are also described, mainly following infective endocarditis, valve replacement, trauma or acute myocardial infarction. We report a case of a 50-year-old man who suffered an extensive and complex infective endocarditis involving a bicuspid aortic valve, the mitral-aortic intervalvular fibrosa and the anterior leaflet of the mitral valve. After dual valve replacement and annular reconstruction, a shunt between the left ventricle and the right atrium--Gerbode defect, and a severe leak of the mitral prosthesis were detected. Reintervention was performed with successful shunt closure with an autologous pericardial patch and paravalvular leak correction. No major complications occurred denying the immediate post-surgery period and the follow-up at the first year was uneventful.
| S-EPMC3334684 | biostudies-literature
Project description:ObjectivesThis study aimed to explore aortic morphology and the associations between morphological features and cardiovascular function in a population of patients with bicuspid aortic valve, while further assessing differences between patients with repaired coarctation, patients with unrepaired coarctation and patients without coarctation.MethodsThis is a single-centre retrospective study that included patients with available cardiovascular magnetic resonance imaging data and native bicuspid aortic valve diagnosis (n = 525). A statistical shape analysis was performed on patients with a 3-dimensional magnetic imaging resonance (MRI) dataset (n = 108), deriving 3-dimensional aortic reconstructions and computing a mean aortic shape (template) for the whole population as well as for the 3 subgroups of interest (no coarctation, repaired coarctation and unrepaired coarctation). Shape deformations (modes) were computed and correlated with demographic variables, 2-dimensional MRI measurements and volumetric and functional data.ResultsOverall, the results showed that patients with coarctation tended towards a more Gothic arch architecture, with decreased ascending and increased descending aorta diameters, with the unrepaired-aortic coarctation subgroup exhibiting more ascending aorta dilation. Careful assessment of patients with repaired coarctation only revealed that a more Gothic arch, increased descending aorta dimensions and ascending aorta dilation were associated with reduced ejection fraction (P ≤ 0.04), increased end-diastolic volume (P ≤ 0.04) and increased ventricular mass (P ≤ 0.02), with arch morphology distinguishing patients with and without recoarctation (P = 0.05).ConclusionsA statistical shape modelling framework was applied to a bicuspid aortic valve population revealing nuanced differences in arch morphology and demonstrating that morphological features, not immediately described by conventional measurements, can indicate those shape phenotypes associated with compromised function and thus possibly warranting closer follow-up.
| S-EPMC6459283 | biostudies-literature
Project description:BackgroundInfective endocarditis is a rare but serious disease with high morbidity and mortality due to its potential life-threatening complications. Gerbode defect is an anomalous connection between the left ventricle and the right atrium that can be either congenital or acquired, with previous rare reports following abscess formation in infective endocarditis.Case summaryA 27-year-old woman presented in hospital with Janeway lesions, stroke, splenic and hepatic abscesses, and transient complete auriculoventricular block. Bicuspid aortic valve infective endocarditis to methicillin-sensitive Staphylococcus aureus and acquired Gerbode defect were diagnosed. After intravenous antibiotics and aortic valve replacement, the patient was discharged without sequelae.DiscussionBicuspid aortic valve patients have a higher risk of infective endocarditis than the general population. Infective endocarditis may present with multiple complications, including systemic embolization and local perivalvular lesions. Acquired Gerbode defect is a rare complication of infective endocarditis where transoesophageal echocardiography plays an important role for small shunt detection before surgical intervention.
| S-EPMC10371048 | biostudies-literature
Project description:Coarctation of the aorta is a form of left ventricular outflow tract obstruction in paediatric patients that can be presented with either bicuspid (BAV) or normal tricuspid (TAV) aortic valve. The congenital BAV is associated with hemodynamic changes and can therefore trigger different molecular remodelling in the coarctation area. This study investigated the proteomic and phosphoproteomic changes associated with BAV for the first time in neonatal coarctation patients. Aortic tissue was collected just proximal to the coarctation site from 23 neonates (BAV; n = 10, TAV; n = 13) that were matched for age (age range 4-22 days). Tissue from half of the patients was frozen and used for proteomic and phosphoproteomic analysis whilst the remaining tissue was formalin fixed and used for analysis of elastin content using Elastic Van-Gieson (EVG) staining. A total of 1796 protein and 75 phosphoprotein accession numbers were detected, of which 34 proteins and one phosphoprotein (SSH3) were differentially expressed in BAV patients compared to TAV patients. Ingenuity Pathway Analysis identified the formation of elastin fibres as a significantly enriched function (p = 1.12 × 10-4) due to the upregulation of EMILIN-1 and the downregulation of TNXB. Analysis of paraffin sections stained with EVG demonstrated increased elastin content in BAV patients. The proteomic/phosphoproteomic analysis also suggested changes in inositol signalling pathways and reduced expression of the antioxidant SOD3. This work demonstrates for the first time that coarcted aortic tissue in neonatal BAV patients has an altered proteome/phosphoproteome consistent with observed structural vascular changes when compared to TAV patients.
| S-EPMC6518196 | biostudies-literature
Project description:BackgroundThere is little evidence on managing the proximal aorta of 4.0-4.5 cm during aortic valve replacement (AVR) in bicuspid aortic valve patients.MethodsA total of 431 patients between 1993 and 2019 underwent either an isolated AVR, AVR + concomitant ascending aorta replacement, or aortic root replacement. We divided patients into native root dilation (4.0-4.5 cm, n = 121) vs root control groups (<4.0 cm, n = 238), native ascending dilation (4.0-4.5 cm, n = 50) vs ascending control groups (<4.0 cm, n = 166), or proximal dilation (root or ascending aorta 4.0-4.5 cm, n = 160) and proximal control groups (both root and ascending aorta <4.0 cm, n = 272).ResultsGrowth rate was similar between the root dilation and control groups, (both were 0.1 mm/y, P = .56). The ascending dilation group had an aorta growth rate of 0.0 mm/y after AVR or root replacement, which was significantly different from the ascending control group (0.2 mm/y), P = .01. Furthermore, growth rate was similar between the proximal dilation (combined root or ascending dilation) and control group (both were 0.1 mm/y, P = .20). There were only 2 ascending aortic aneurysm repairs after AVR in the whole cohort. The long-term survival was similar between the root or ascending dilation groups vs root or ascending control groups, and between the proximal dilation and control groups. Multivariable Cox regression confirmed aortic root or ascending dilation was not a significant risk factor of long-term mortality.ConclusionsOur findings supported not replacing a 4.0-4.5 cm proximal thoracic aorta, including aortic root and ascending aorta, at the time of AVR for bicuspid aortic valve patients.
| S-EPMC8733045 | biostudies-literature
Project description:A 42-year-old man with a history of surgically repaired coarctation of the aorta presented with a refractory right heart failure. Echocardiography revealed a calcified bicuspid aortic valve both regurgitant and stenotic and a defect within the membranous septum with left to right shunt from the left ventricle (LV) to the right atrium. The patient was referred to surgery for an aortic valve replacement and closure with patch repair of the Gerbode type defect. Post-operative course was complicated by refractory heart failure with a persistent left to right shunt through the defect due to loose sutures. Taking into account the high surgical risk, percutaneous closure of the defect was decided. An Amplatzer Duct Occluder (St Jude Medical, USA) I device was successfully released within the defect. The patient was completely asymptomatic on follow-up.
| S-EPMC9295689 | biostudies-literature
Project description:We report a case of a type A aortic dissection with extension into the main pulmonary artery through a sinus of Valsalva fistula. Echocardiography and computed tomographic angiography of the chest were performed and bicuspid aortic valve, hemopericardium, and dilatation of the aortic root were found. A Stanford type A dissection was seen, extending to the distal transverse thoracic aorta, and there was a communication between the dissection at the left sinus of Valsalva and the main pulmonary artery, where a dissection flap was detected at computed tomographic angiography. This case report reviews the rare diagnosis of pulmonary artery dissection, multimodality imaging findings, and a brief review of etiology and management.
| S-EPMC5552015 | biostudies-other
Project description:OBJECTIVES:To determine whether the contributions of genetics and bicuspid aortic valve (BAV) independently influence aortic (Ao) dimensions. BACKGROUND:Ao dilation is a risk factor for aneurysm, dissection, and sudden cardiac death. Frequent association of BAV with Ao dilation implicates a common underlying defect possibly due to genetic factors. METHODS:Families enriched for BAV underwent standardized transthoracic echocardiography. In addition to BAV status, echocardiographic measures of Ao (annulus to descending Ao), pulmonary artery, and mitral valve annulus (MVA) diameters were obtained. Using variance components analysis, heritability was estimated with and without BAV status. Additionally, bivariate genetic analyses between Ao dimensions and BAV were performed. RESULTS:Our cohort was obtained from 209 families enriched for BAV. After adjusting for age, body surface area, and sex, individuals with BAV had a statistically significant increase in all echocardiographic measurements (p?<?0.006) except descending Ao and MVA. Individuals with BAV were at greater odds of having Ao dilation (OR?=?4.44, 95% CI 2.93-6.72) than family members without BAV. All echocardiographic measurements exhibited moderate to strong heritability (0.25-0.53), and these estimates were not influenced by inclusion of BAV as a covariate. Bivariate genetic analyses supported that the genetic correlation between BAV and echo measures were not significantly different from zero. CONCLUSION:We show for the first time that echocardiographic measurements of Ao, pulmonary artery and MVA diameters are quantitative traits that exhibit significant heritability. In addition, our results suggest the presence of BAV independently influences the proximal Ao and pulmonary artery measures but not those in the descending Ao or MVA.
| S-EPMC3268614 | biostudies-literature
Project description:Aortic valve endocarditis may be destructive and cause an acquired Gerbode-type defect. The use of biological material in the closure of the Gerbode defect and reconstruction of the aortic valve is essential for both early and long-term survival. Herein, we present a 62-year-old male patient whose Gerbode defect was repaired with bovine pericardium. Additionally, the aortic valve was reconstructed by using bovine pericardium with Ozaki neocuspidization technique.
| S-EPMC9473595 | biostudies-literature
Project description:We describe a case of a 77-year-old male who underwent transcatheter aortic valve implantation (TAVR) with Edwards SAPIEN XT size 26 mm for severe aortic stenosis. Postprocedural transesophageal echocardiography (TEE) showed left-to-right shunt between the left ventricular outflow tract just below the bioprosthesis and the right atrium across the atrioventricular septum (Gerbode defect). Three-dimensional echocardiography (3DE) allowed a detailed anatomical imaging of the shape and the location of a small, circular, atrioventricular defect that was a type II, direct, supravalvular, Gerbode-type defect. This is the third report of a Gerbode defect after TAVR whose diagnosis has important implications on clinical decision-making. TEE plays a key role; its diagnostic ability is enriched by the additional value of 3DE.
| S-EPMC6450239 | biostudies-literature