Aortic Dissection in an Undiagnosed Familial Form of Bicuspid Aortic Valve with a Short Raphe.
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ABSTRACT:
SUBMITTER: Hautin R
PROVIDER: S-EPMC7581640 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Publications
Aortic Dissection in an Undiagnosed Familial Form of Bicuspid Aortic Valve with a Short Raphe.
Hautin Ryan R Mirault Tristan T Munte Laura L Achouh Paul P Khider Lina L Messas Emmanuel E Goudot Guillaume G
CASE (Philadelphia, Pa.) 20200820 5
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Project description:A 37-year-old male presented to the Emergency Department with acute worsening of back pain and new onset dyspnea. Transthoracic echocardiography revealed moderate left ventricular dysfunction and a bicuspid aortic valve (BAV). In addition, he was noted to have a dilated thoracic aorta concerning for a dissection, severe aortic insufficiency (AI), and both a pericardial and pleural effusion. Magnetic resonance imaging revealed a Type A ascending aortic dissection. He was taken emergently to the operating room for repair. An intraoperative transesophageal echocardiography examination was performed which revealed a normal trileaflet AV with a Type A aortic dissection flap masquerading as a BAV. The dissection flap interfered with both the valve's function, causing severe AI, as well as the valve's appearance, causing it to look bicuspid on echocardiography.
| S-EPMC5791272 | biostudies-literature
Project description:BackgroundData regarding the risk of aortic dissection in patients with bicuspid aortic valve and large ascending aortic diameter are limited, and appropriate timing of prophylactic ascending aortic replacement lacks consensus. Thus our objectives were to determine the risk of aortic dissection based on initial cross-sectional imaging data and clinical variables and to isolate predictors of aortic intervention in those initially prescribed serial surveillance imaging.MethodsFrom January 1995 to January 2014, 1,181 patients with bicuspid aortic valve underwent cross-sectional computed tomography (CT) or magnetic resonance imaging (MRI) to ascertain sinus or tubular ascending aortic diameter greater than or equal to 4.7 cm. Random Forest classification was used to identify risk factors for aortic dissection, and among patients undergoing surveillance, time-related analysis was used to identify risk factors for aortic intervention.ResultsPrevalence of type A dissection that was detected by imaging or was found at operation or on follow-up was 5.3% (n = 63). Probability of type A dissection increased gradually at a sinus diameter of 5.0 cm--from 4.1% to 13% at 7.2 cm--and then increased steeply at an ascending aortic diameter of 5.3 cm--from 3.8% to 35% at 8.4 cm--corresponding to a cross-sectional area to height ratio of 10 cm(2)/m for sinuses of Valsalva and 13 cm(2)/m for the tubular ascending aorta. Cross-sectional area to height ratio was the best predictor of type A dissection (area under the curve [AUC] = 0.73).ConclusionsEarly prophylactic ascending aortic replacement in patients with bicuspid aortic valve should be considered at high-volume aortic centers to reduce the high risk of preventable type A dissection in those with aortas larger than approximately 5.0 cm or with a cross-sectional area to height ratio greater than approximately 10 cm(2)/m.
| S-EPMC5166604 | 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:We report the successful repair of a bicuspid aortic valve with vegetation on its thickened raphe by using two pericardial patches. After excising the vegetation and thickened raphe, the first patch was sewn between the remaining leaflets. Another patch was then sewn at the base of the cusp to create sufficient geometrical height for good coaptation. Our two-patch technique may facilitate intraoperative accommodation of the 3-D shape of the new cusp.
| S-EPMC3630414 | biostudies-literature
Project description:Abnormalities of the arterial valve leaflets, predominantly bicuspid aortic valve, are the commonest congenital malformations. Although many studies have investigated the development of the arterial valves, it has been assumed that, as with the atrioventricular valves, endocardial to mesenchymal transition (EndMT) is the predominant mechanism. We show that arterial is distinctly different from atrioventricular valve formation. Whilst the four septal valve leaflets are dominated by NCC and EndMT-derived cells, the intercalated leaflets differentiate directly from Tnnt2-Cre+/Isl1+ progenitors in the outflow wall, via a Notch-Jag dependent mechanism. Further, when this novel group of progenitors are disrupted, development of the intercalated leaflets is disrupted, resulting in leaflet dysplasia and bicuspid valves without raphe, most commonly affecting the aortic valve. This study thus overturns the dogma that heart valves are formed principally by EndMT, identifies a new source of valve interstitial cells, and provides a novel mechanism for causation of bicuspid aortic valves without raphe.
| S-EPMC6025960 | biostudies-literature
Project description:Genome wide DNA methylation profiling of ascending aorta tissue samples from normal, aortic dissection and bicuspid aortic valve patients with aortic dilation. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across more than 450,000 CpGs in ascending aorta samples. Samples included 6 normal donors, 12 patients with aortic dissection and 6 patients with bicuspid aortic valve and dilated aorta.
2019-07-11 | GSE84274 | GEO
Project description:BACKGROUND: A better understanding of the molecular mechanism of aortic valve development and bicuspid aortic valve (BAV) formation would significantly improve and optimize the therapeutic strategy for treating BAV patients. Over the past decade, the genes involved in aortic valve development and BAV formation has been increasingly recognized. On the other hand, ADAMTS gene family members have been reported to be able to modulate cardiovascular development and diseases. The present study aimed to further investigate the roles of ADAMTS family members in aortic valve development and BAV formation. METHODS: Morpholino-based ADAMTS family gene-targeted screening for zebrafish heart outflow tract phenotypes combined with DNA sequencing in a 304 cohort BAV patient registry study was initially carried out to identify potentially related genes. Both ADAMTS gene-specific fluorescence in situ hybridization assay and genetic tracing experiments were then performed to evaluate the expression pattern in the aortic valve Accordingly, related genetic mouse models (both knock-out and knock-in) were generated using the CRISPR/Cas9 method to further study the roles of ADAMTS family genes. The lineage tracing technique was used again to evaluate how the cellular activity of specific progenitor cells was regulated by ADAMTS genes. Bulk RNA sequencing was used to investigate the signaling pathways involved. Both inducible pluripotent stem cells (iPSC) derived from BAV patients and genetic mouse tissue were used to study the molecular mechanism of the gene. Immunohistochemistry using different antibodies was performed to describe the phenotype of cardiac valve anomalies, especially in the ECM components. RESULTS: ADAMTS genes targeted phenotype screening in zebrafish and targeted DNA sequencing on a cohort of BAV patients identified ADAMTS16 as a BAV-causing gene and found the ADAMTS16 p.H357Q variant in an inherited BAV family. In addition, both in situ hybridization and genetic tracing studies described a unique spatiotemporal pattern of ADAMTS16 expression during aortic valve development. Adamts16+/- and Adamts16+/H355Q mouse models both exhibited an R-NC-type BAV phenotype, with progressive aortic valve thickening associated with raphe formation (fusion of the commissure). Conditional Adamts16 mutant mouse models further demonstrated that Adamts16 deficiency mainly in endothelial lineage cells recapitulated the BAV phenotype. This was confirmed in lineage tracing mouse models in which Adamts16 deficiency affected endothelial and second heart field cells, not the neural crest cells. Accordingly, the changes were mainly detected in the noncoronary and right coronary leaflets. Bulk RNA sequencing using iPSC-induced endothelial cells (iPSC-ECs) and genetic mouse embryonic heart tissue unveiled enhanced FAK signaling, which was accompanied by elevated fibronectin levels. Both in vitro iPSC-ECs culture and ex vivo embryonic outflow tract explant studies validated the altered FAK signaling. CONCLUSIONS: Our present study identified a novel BAV-causing ADAMTS16 p. H357Q variant. ADAMTS16 deficiency led to BAV formation. We then performed gene expression profiling analysis using data obtained from RNA-seq of 15 different tissues of different genetic mice.
2023-12-30 | GSE232560 | GEO
Project description:BackgroundThe purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV).MethodsAll the coding exons including adjacent intronic as well as 5' and 3' untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members.ResultsTwo novel mutations, a missense and a nonsense mutation (Exon 5, p.P284L; Exon 26, p.Y1619X), were found in the NOTCH1 gene in two unrelated families. The mutations segregated with the disease in these families, and they were not found on 200 unrelated chromosomes from ethnically matched controls. No pathogenetic mutation was identified in GATA5, TGFBR1 and TGFBR2 genes.ConclusionsTwo novel NOTCH1 mutations were identified in two Italian families with BAV, highlighting the role of a NOTCH1 signaling pathway in BAV and its aortic complications. These findings are of relevance for genetic counseling and clinical care of families presenting with BAV. Future studies are needed in order to unravel the still largely unknown genetics of BAV.
| S-EPMC3637327 | biostudies-literature
Project description:ObjectivesTo compare the outcomes after surgical (SAVR) and transcatheter aortic valve replacement (TAVR) for severe stenosis of bicuspid aortic valve (BAV).MethodsWe evaluated the early and mid-term outcome of patients with stenotic BAV who underwent SAVR or TAVR for aortic stenosis from the nationwide FinnValve registry.ResultsThe FinnValve registry included 6463 AS patients and 1023 (15.8%) of them had BAV. SAVR was performed in 920 patients and TAVR in 103 patients with BAV. In the overall series, device success after TAVR was comparable to SAVR (94.2% vs. 97.1%, p = 0.115). TAVR was associated with increased rate of mild-to-severe paravalvular regurgitation (PVR) (19.4% vs. 7.9%, p < 0.0001) and of moderate-to-severe PVR (2.9% vs. 0.7%, p = 0.053). When newer-generation TAVR devices were evaluated, mild-to-severe PVR (11.9% vs. 7.9%, p = 0.223) and moderate-to-severe PVR (0% vs. 0.7%, p = 1.000) were comparable to SAVR. Type 1 N-L and type 2 L-R/R-N were the BAV morphologies with higher incidence of mild-to-severe PVR (37.5% and 100%, adjusted for new-generation prostheses p = 0.025) compared to other types of BAVs. Among 75 propensity score-matched cohorts, 30-day mortality was 1.3% after TAVR and 5.3% after SAVR (p = 0.375), and 2-year mortality was 9.7% after TAVR and 18.7% after SAVR (p = 0.268) CONCLUSIONS: In patients with stenotic BAV, TAVR seems to achieve early and mid-term results comparable to SAVR. Type 1 N-L and type 2 L-R/R-N BAV morphologies had higher incidence of PVR. Larger studies evaluating different phenotypes of BAV are needed to confirm these findings.Clinical trial registrationClinicalTrials.gov Identifier: NCT03385915.
| S-EPMC7907039 | biostudies-literature
Project description:The trileaflet mitral valve is a very rare congenital malformation with three equal size leaflets and three papillary muscles. In this article, we report the first case of trileaflet mitral valve associated with a bicuspid aortic valve in a patient referred for management of infective endocarditis. <Learning objective: A trileaflet mitral valve is a rare congenital anomaly. There are two cases described in the literature, one associated with hypertrophic cardiomyopathy and the other with a subvalvular stenosis. To the best of our knowledge, we believe that this is the first description of trileaflet mitral valve associated with bicuspid aortic valve.>.
| S-EPMC6262142 | biostudies-literature