Quadricuspid Mitral Valve in Hypertrophic Cardiomyopathy.
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ABSTRACT:
SUBMITTER: Faria B
PROVIDER: S-EPMC7451885 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Publications
Quadricuspid Mitral Valve in Hypertrophic Cardiomyopathy.
Faria Bebiana B Lourenço Mário M Azevedo Olga O Fernandes Marina M von Hafe Pedro P Sousa Francisco F Lourenço António A
CASE (Philadelphia, Pa.) 20200429 4
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| S-EPMC7098819 | biostudies-literature
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| S-EPMC10622635 | biostudies-literature
Project description:AimsMitral valve (MV) abnormalities are recognized features of hypertrophic cardiomyopathy (HCM), and there is preliminary evidence suggesting they are intrinsic phenotypic manifestations of sarcomere mutations, present in mutation carriers without left ventricular (LV) hypertrophy (subclinical HCM). However, further study is required to characterize the nature of these changes and their functional impact. Thus, we performed comprehensive echocardiographic analysis of MV structure and function on a genotyped population.Methods and resultsMV and papillary muscle echocardiographic parameters were measured in 192 genotyped individuals, including 50 overt HCM, 79 subclinical HCM, and 63 mutation-negative, healthy relatives as normal controls. Compared to controls, subclinical HCM subjects had elongated anterior MV leaflets relative to LV end-diastolic volume index (0.57 ± 0.02 vs. 0.51 ± 0.02 mm/mL/m2, P = 0.013) and anteriorly displaced papillary muscles [decreased papillary-septal separation (31.1 ± 0.7 vs. 34.2 ± 0.9 mm, P = 0.004) and relative antero-posterior position ratio of the papillary muscles (0.67 ± 0.01 vs. 0.71 ± 0.01, P = 0.011]. Similar findings were identified comparing overt HCM to controls. These MV changes were associated with an increased prevalence of systolic anterior motion (SAM) of the MV amongst subclinical HCM subjects.ConclusionsSarcomere mutations are associated with primary abnormalities of the MV apparatus, specifically excess anterior leaflet length relative to LV cavity size and anterior displacement of the papillary muscles; both features predisposing to SAM. These abnormalities appear to be early phenotypic consequences of sarcomere mutations, observed in mutation carriers with normal LV wall thickness.
| S-EPMC6148328 | biostudies-literature
Project description:ObjectiveThis study aimed to compare clinical outcomes of different mitral valve (MV) management methods in thoracoscopic transmitral myectomy (TTM) and guide surgeons' decision making for hypertrophic obstructive cardiomyopathy (HOCM).MethodsSeventy-three consecutive patients (41 females; mean age, 53.7 ± 13.6 years) with HOCM who underwent TTM between January 2019 and October 2022 were enrolled and divided into 3 groups according to MV surgical strategy. Clinical outcomes were analyzed and compared among the groups.ResultsNone of the patients experienced postoperative residual left ventricular outflow tract obstruction. Percentages of patients with mitral regurgitation (MR) grade ≥3+ (57.5% vs 1.4%) and systolic anterior motion (95.9% vs 2.7%) were significantly decreased postoperatively (P < .001 for both). The preoperative anterior mitral leaflet length was longer in patients in the anterior mitral leaflet direct reattachment group (median, 2.9 cm [interquartile range (IQR), 2.7-3.3 cm] vs 2.7 [IQR, 2.4-2.9 cm]; P = .018), but the postoperative coaptation length was shorter (mean, 8.3 ± 2.1 mm vs 11.1 ± 3.8 mm; P = .038). After a median echocardiography follow-up of 11.8 months, the left ventricular outflow tract gradient (LVOTG) and mitral regurgitation grades remained significantly improved in all 3 groups (P < .05 for all).ConclusionsTotal TTM in selected patients is safe and effective, and all 3 MV management strategies can significantly reduce the LVOTG while improving MR. Mitral valvuloplasty is the preferred initial management strategy over valve replacement except in the scenario of irreparable intrinsic MV disease and valvuloplasty failure.
| S-EPMC10750849 | biostudies-literature
Project description:BackgroundMitral valve (MV) elongation is a primary hypertrophic cardiomyopathy (HCM) phenotype and contributes to obstruction. The residual MV leaflet that protrudes past the coaptation point is especially susceptible to flow-drag and systolic anterior motion. Histopathological features of MVs in obstructive hypertrophic cardiomyopathy (OHCM), and of residual leaflets specifically, are unknown.ObjectivesThe purpose of this study was to characterize gross, structural, and cellular histopathologic features of MV residual leaflets in OHCM. On a cellular-level, we assessed for developmental dysregulation of epicardium-derived cell (EPDC) differentiation, adaptive endocardial-to-mesenchymal transition and valvular interstitial cell proliferation, and genetically-driven persistence of cardiomyocytes in the valve.MethodsStructural and immunohistochemical staining were performed on 22 residual leaflets excised as ancillary procedures during myectomy, and compared with 11 control leaflets from deceased patients with normal hearts. Structural components were assessed with hematoxylin and eosin, trichrome, and elastic stains. We stained for EPDCs, EPDC paracrine signaling, valvular interstitial cells, endocardial-to-mesenchymal transition, and cardiomyocytes.ResultsThe residual leaflet was always at A2 segment and attached by slack, elongated and curlicued, myxoid chords. MV residual leaflets in OHCM were structurally disorganized, with expanded spongiosa and increased, fragmented elastic fibers compared with control leading edges. The internal collagenous fibrosa was attenuated and there was collagenous tissue overlying valve surfaces in HCM, with an overall trend toward decreased leaflet thickness (1.09 vs 1.47 mm, P = 0.08). No markers of primary cellular processes were identified.ConclusionsMV residual leaflets in HCM were characterized by histologic findings that were likely secondary to chronic hemodynamic stress and may further increase susceptibility to systolic anterior motion.
| S-EPMC10306242 | biostudies-literature
Project description: Not available
| S-EPMC10353281 | biostudies-literature
Project description:A 40-year-old man with Marfan syndrome presented with chest pain and troponin elevation. Urgent echocardiography was suggestive of hypertrophic cardiomyopathy, but cardiovascular magnetic resonance identified features of acute myocarditis. Repeated imaging 4 months later showed resolution of septal thickness, confirming acute myocarditis. (Level of Difficulty: Intermediate.).
| S-EPMC8784724 | biostudies-literature
Project description:Background and objectiveThe prevalence of hypertrophic cardiomyopathy (HCM) is estimated to be 1 in 200 to 500 individuals, with systolic anterior motion (SAM) of the mitral valve (MV) and left ventricular outflow tract (LVOT) obstruction present in 60% to 70%. In this narrative review, we aim to elucidate the pathophysiology of SAM-septal contact and LVOT obstruction in HCM by presenting a detailed review on the anatomy of the MV apparatus in HCM, examining the various existing theories pertaining to the SAM phenomenon as supported by cardiac imaging, and providing a critical assessment of management strategies for SAM in HCM.MethodsA literature review was performed using PubMed, EMBASE, Ovid, and the Cochrane Library, of all scientific articles published through December 2021. A focus was placed on descriptive studies, reports correlating echocardiographic findings with pathologic diagnosis, and outcomes studies.Key content and findingsThe pathophysiology of SAM involves the complex interplay between HCM morphology, MV apparatus anatomic abnormalities, and labile hemodynamic derangements. Echocardiography and cardiac magnetic resonance (CMR) vector flow mapping have identified drag forces, as opposed to the "Venturi effect", as the main hydraulic forces responsible for SAM. The degree of mitral regurgitation with SAM is variable, and its severity is correlated with degree of LVOT obstruction and outcomes. First line therapy for the amelioration of SAM and LVOT obstruction is medical therapy with beta-blockers, non-dihydropyridine calcium-channel blockers, and disopyramide, in conjunction with lifestyle modifications. In refractory cases septal reduction therapy is performed, which may be combined with a 'resect-plicate-release' procedure, anterior mitral leaflet extension, surgical edge-to-edge MV repair, anterior mitral leaflet retention plasty, or secondary chordal cutting.ConclusionsRecent scientific advances in the field of HCM have allowed for a maturation of our understanding of the SAM phenomenon. Cardiac imaging plays a critical role in its diagnosis, treatment, and surveillance, and in our ability to apply the appropriate therapeutic regimens. The increasing prevalence of HCM places an emphasis on continued basic and clinical research to further improve outcomes for this challenging population.
| S-EPMC9264047 | biostudies-literature
Project description:Background and aimsDespite different etiopathogenesis, Fabry Disease cardiomyopathy (FDc) and sarcomeric hypertrophic cardiomyopathy (HCM) share a similar hypertrophic phenotype, including anomalies of the mitral valve apparatus (AMVA). Some of these anomalies have also been described in the pre-hypertrophic stage of both diseases. This cardiovascular magnetic resonance (CMR) study aimed to: (i) compare AMVA between FDc and HCM with a similar degree of left ventricular hypertrophy (LVH), to add new insights into differential diagnosis; (ii) assess whether AMVA represent an early and progressive alteration in FDc; (iii) propose simple and potentially reproducible measurements of AMVA.MethodsThis observational, retrospective study enrolled: (i) 80 Fabry patients, divided into three groups with increasing severity of cardiac phenotype (20 patients LVH-/normal T1, 20 patients LVH-/low T1 and 40 patients LVH+), and (ii) 40 patients with HCM. All patients underwent CMR. The LVH + FDc and the HCM groups were matched for age, sex, body surface area and left ventricular (LV) mass. The following AMVA were measured on cine images: papillary muscles (PMs) hypertrophy (maximal diameter (Dmax) of anterolateral (Al) and posteromedial (Pm) PM), apical displacement, anteriorization of Al PM and anterior mitral valve leaflet (AMVL) elongation. Reference values for defining AMVA were derived from a matched healthy control group (n = 40).ResultsBoth HCM and FDc LVH + patients showed PMs hypertrophy, with a greater degree in the FDc LVH + group [Dmax Al PM 16 ± 3.4 vs. 15 ± 3.1 mm, p 0.017; Dmax Pm PM 14 ± 4.0 vs.12 mm (10.0-14.0), p 0.039] As compared to controls, both HCM and FDc LVH + patients showed PMs apical displacement (HCM 83% vs. healthy volunteers 8%, p < 0.001; FDc LVH + 65% vs. healthy volunteers 8%, p < 0.001), with a greater prevalence in HCM. Anteriorization of Al PM was only evident in HCM (15 ± 6.2 vs. healthy controls 21 ± 5.3 mm, p < 0.001). Elongation of AMVL was detected both in HCM and FDc with LVH + (HCM 29 ± 4.0 vs. healthy volunteers 24 ± 2.9 mm, p < 0.001; FDc LVH + 27 ± 4.0 vs. healthy volunteers 24 ± 2.9 mm, p < 0.001) without significant differences between the two phenocopies. The prevalence of myocardial crypts was higher among HCM patients than in FDc LVH + patients (75% vs. 48%, p 0.012).Conclusionswe report greater PMs hypertrophy in FDc and a higher prevalence of PMs positional alterations (anterior and apical displacement) and myocardial crypts in HCM. All these AMVA became more pronounced with the progression of the FDc phenotype. We suggest the systematic inclusion of the analysis of AMVA by simple linear measurements on cine images in the CMR assessment of hypertrophic cardiomyopathies, to help in the differential diagnosis between HCM and FDc and to facilitate early detection of cardiac involvement in FDc.
| S-EPMC11475249 | biostudies-literature
Project description:Costello syndrome is a rare congenital disease caused by activating germline mutations, and it is often associated with cardiac abnormalities. A 17-year-old male with a history of Costello syndrome presented with persistent fever. Vegetation attached to anterior mitral leaflet was detected, and antibiotic therapy was administered as treatment for infectious endocarditis. However, it was difficult to manage his heart failure owing to the worsening of mitral valve regurgitation. Therefore, mitral valve repair with vegetation resection was performed. His hypertrophic cardiomyopathy and systolic anterior motion of mitral anterior leaflet caused left ventricle outflow tract obstruction. A floating stitch on the anterior mitral leaflet from the posterior ring annulus was effective. Herein, we report a successfully repaired case of infectious endocarditis on the mitral valve with hypertrophic cardiomyopathy complicated by Costello syndrome. <Learning objective: Costello syndrome is a rare congenital disease caused by activating germline mutations, and is often associated with cardiac abnormalities. However, there are few reports about cardiac surgery in a patient with Costello syndrome. Thus, we report a successfully repaired case of infectious endocarditis on the mitral valve with hypertrophic cardiomyopathy complicated by Costello syndrome. A floating stitch on the anterior mitral leaflet from the posterior ring annulus was effective.>.
| S-EPMC9168975 | biostudies-literature