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A woman in her 80s with a history of congestive heart failure, atrial arrhythmia treated with atrioventricular nodal ablation and permanent pacemaker (PPM) placement, mitral valve disease status post-repair and colon cancer status post-treatment was admitted for further evaluation of severe dyspnea on exertion. Imaging revealed vegetation on both the prosthetic mitral valve and the PPM lead. Blood cultures were collected without growth, so a cell-free DNA Karius test was performed, which can detect over 1000 pathogens and has a sensitivity between 87% and 93%. Testing returned positive results for Streptococcus bovis subspecies pasteurianus Given its association with colorectal cancer, abdominal imaging and an endoscopic biopsy were performed, showing recurrent colonic malignancy. The patient underwent a right colon resection prior to cardiac intervention. This report describes the clinical application of the novel cell-free DNA Karius test, which led to the diagnosis of recurrent colon cancer associated with S. pasteurianus endocarditis.

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Inferior sinus venosus atrial septal defect (SVASD) is the rarest form of the atrial septal defect (ASD) and can sometimes go unnoticed. Although this defect can be associated with other congenital anomalies, its association with hypoplasia of the posterior mitral leaflet is extremely rare. In this case, we present a woman with a history of surgery for an ostium secundum ASD who exhibited persistent right heart chamber dilation. Echocardiography revealed hypoplasia of the posterior mitral leaflet, and cardiac magnetic resonance (CMR) imaging confirmed the presence of a previously undetected inferior sinus venosus ASD.

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Atrial fibrillation is the most common cardiac arrhythmia, leading to progressive dilation of cardiac chambers, abnormal contraction patterns of the atria and ventricles and, potentially, atrioventricular valvular insufficiency. Moreover, heart failure with preserved ejection fraction is often present and closely intertwined with disease initiation and progression. Surgical valve repair with a true-sized ring annuloplasty is a well-established treatment option in atrial functional mitral regurgitation. While early results are good, recent studies have brought the durability of this repair approach into question, highlighting the need for further refinement of the surgical strategy. In particular, repair strategies that simultaneously target the mitral valve as well as the left ventricle could provide improved repair durability.

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Mitral regurgitation (MR) is associated with morphological and functional alterations of left atrium (LA) and ventricle (LV), possibly inducing LA-LV misalignment. We aimed to: (1) characterize angulation between LA and mitral annulus from conventional cine MRI data and feature-tracking (FT) contours, (2) assess their associations with functional capacity in MR patients, as assessed by oxygen consumption (peak-VO2) and minute ventilation to carbon dioxide production (VE/VCO2) slope, in comparison with MRI LA/LV strain indices. Thirty-two asymptomatic primary MR patients (56 [40; 66] years, 12 women) underwent cardiac MRI resulting in LA/LV conventional FT-derived strain indices. Then, end-diastolic angles were derived from FT LA contours: (1) α, centered on the LA centre of mass and defined by mitral valve extremities, (2) γ, centered on the mitral ring anterior/lateral side, and defined by LA centre and the other extremity of the mitral ring. Cardiopulmonary exercise testing with simultaneous echocardiography were also performed; peak-VO2 and VE/VCO2 slope were measured. While peak-VO2 and VE/VCO2 slope were not correlated to LA/LV strains, they were significantly associated with angles (α: r = 0.50, p = 0.003 and r = - 0.52, p = 0.003; γ: r = - 0.53, p = 0.002 and r = 0.52, p = 0.003; respectively), independently of age and gender (R2 ≥ 0.29, p ≤ 0.03). In primary MR, the new LA/mitral annulus angles, computed directly from standard-of-care MRI, are better correlated to exercise tolerance than conventional LA/LV strain.

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Genetic factors play a significant role in the pathogenesis of mitral valve diseases, including mitral valve prolapse (MVP) and mitral valve regurgitation. Genes like Fibrillin-1 (FBN1), Filamin A (FLNA), matrix metalloproteinase 2 (MMP2), and SRY-box transcription factor 9 (SOX9) are known to influence mitral valve pathology but knowledge of the exact mechanism is far from clear. Data regarding serum parameters, transesophageal echocardiography, and genetic and histopathologic parameters were investigated in 54 patients who underwent cardiovascular surgery for mitral valve regurgitation. The possible association between Fibrillin-1, Filamin A, MMP2, and SOX9 gene expressions was checked in relationship with the parameters of systemic inflammatory response. The mRNA expression levels (RQ-relative quantification) were categorized into three distinct groups: low (RQ < 1), medium/normal (RQ = 1-2), and high (RQ > 2). Severe fibrosis of the mitral valve was reflected by high expression of FBN1 and low expression of MMP2 (p < 0.05). The myxoid degeneration level was associated with the mRNA expression level for FBN1 and a low lymphocyte-monocyte ratio was associated with an increased mRNA expression of FBN1 (p < 0.05). A high number of monocytes was associated with high values of FBN1 whereas the increase in the number of lymphocytes was associated with high levels of MMP2. In addition, we observed that the risk of severe hyalinization was enhanced by a low mRNA expression of FLNA and/or SOX9. In conclusion, a lower FLNA mRNA expression can reflect the aging process that is highlighted in mitral valve pathology as a higher risk for hyalinization, especially in males, that might be prevented by upregulation of the SOX9 gene. FBN1 and MMP2 influence the inflammation-related fibrotic degeneration of the mitral valve. Understanding the genetic base of mitral valve pathology can provide insights into disease mechanisms, risk stratification, and potential therapeutic targets.

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BACKGROUND: Corynebacterium striatum (C. striatum) is a gram-positive, anaerobic bacillus found both environmentally and in human skin and nasal mucosa flora. It is reportedly the etiologic agent of community-acquired and nosocomial diseases and is significantly associated with bacteremia and medical endovascular devices. This is the rare case of mitral valve native valve endocarditis (NVE) caused by C. striatum occurring in a young adult without underlying structural heart disease or indwelling cardiovascular medical devices successfully treated with multidisciplinary therapy. CASE PRESENTATION: The patient was a 28-year-old female with no medical history. She was transferred our hospital due to sudden onset of vertigo and vomit. A computed tomography on day 2 revealed the hydrocephalus due to the cerebellar infarction, and she underwent posterior fossa decompression for cerebellar infarction. An angiography on day 8 revealed a left vertebral artery dissection, which was suspected be the etiology. Afterwards, a sudden fever of 39 degrees developed on day 38. She was diagnosed with aspiration pneumonia and treated with ampicillin/sulbactam but was still febrile at the time of transfer for rehabilitation. Treatment continued with levofloxacin, the patient had no fever decline, and she was readmitted to our hospital. Readmission blood cultures (3/3 sets) revealed C. striatum, and an echocardiogram revealed an 11 mm long mitral valve vegetation, leading to NVE diagnosis. On the sixth illness day, cardiac failure symptoms manifested. Echocardiography revealed mitral valve rupture. She was transferred again on the 11th day of illness, during which time her mitral valve was replaced. C. striatum was detected in the vegetation. Following surgery, she returned to our hospital, and vancomycin administration continued. The patient was discharged after 31 total days of postoperative antimicrobial therapy. The patient experienced no exacerbations thereafter. CONCLUSIONS: We report the rare case of C. striatum mitral valve NVE in a young adult without structural heart disease or indwelling cardiovascular devices. CLINICAL TRIAL NUMBER: Not applicable.

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Cardiac surgery causes a series of disturbances in human physiology. The correction of systemic hemodynamic variables is frequently ineffective in improving microcirculatory perfusion and delivering oxygen to the tissues. We present the case of a 52-year-old male submitted to mitral valve replacement (metallic valve) and subaortic membrane resection. Sublingual microcirculatory density and perfusion were evaluated using a handheld CytoCam camera before surgery and in the early postoperative period. In this case, systemic hemodynamic variables were compromised despite an actual improvement in the microcirculatory parameters in comparison to the preoperative evaluation, possibly due to the correction of the structural cardiac defects.

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INTRODUÇÃO O refluxo paraprotético (RPP) é uma complicação que afeta entre 1,9% e 17% dos pacientes submetidos à troca da valva mitral e em menor proporção, entre 2% e 12% dos casos de troca da valva aórtica, sendo mais comum em pacientes que recebem próteses mecânicas. Os pacientes que cursam com regurgitação importante, insuficiência cardíaca (IC) e anemia hemolítica, refratários ao tratamento clínico têm indicação de correção do defeito por tratamento cirúrgico ou percutâneo. OBJETIVO O objetivo do estudo é avaliar a evolução clínica e ecocardiográfica dos pacientes portadores de RPP sintomáticos, de elevado risco cirúrgico, submetidos a fechamento percutâneo. MÉTODOS Estudo prospectivo e observacional em hospital terciário, que incluiu pacientes com RPP mitral ou aórtico sintomáticos, com repercussão clínica, (IC ou hemólise) submetidos a fechamento percutâneo entre junho 2014 e abril 2024. RESULTADOS Foram incluídos 25 pacientes, média das idades 62,8±10,5 anos, 53% dos pacientes eram mulheres. O número de cirurgias prévias variou de 1 a 4, com média de 2,38±1,07 cirurgias por paciente. A maioria apresentava um único orifício regurgitante (17 pacientes). Seis pacientes tinham prótese biológica (4 mitrais e 2 aórticos) e 19 prótese mecânica (15 mitrais, 6 mitro-aórticos e 4 aórticos). A indicação da oclusão do RPP foi predominantemente por IC. O dispositivo utilizado foi Amplatzer Vascular Plug, o número de plugs variou de 1 a 4 (média de plugs utilizados foi de 1,6±0,91 por paciente). A via de acesso percutâneo foi a femoral em 22 dos procedimentos e transapical em 3. Foi possível implantar o plug em 20 pacientes (80%). Dentro desta amostra, 12 ficaram com RPP residual discreto ou ausente, enquanto 8 continuaram com RPP moderado a importante, dos quais 2 faleceram em decorrência do procedimento, 3 foram encaminhados para cirurgia (1 óbito) e 3 ficaram em tratamento clínico. Não foi possível implantar o plug, por dificuldade técnica, em 20% dos pacientes (2 permaneceram em tratamento clínico, 3 evoluíram para óbito). CONCLUSÃO Os resultados do estudo demonstram que o fechamento percutâneo do RPP em pacientes de alto risco cirúrgico é uma opção viável. O implante do plug foi possível em 20 dos 25 pacientes. RPP residual, discreto ou ausente, foi encontrado em 12 pacientes (60%). Futuros estudos prospectivos e randomizados são necessários para melhor avaliação de segurança e eficácia do fechamento percutâneo do refluxo paraprotético.

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INTRODUÇÃO: A cardiomiopatia hipertrófica (CMH) é uma doença de causa geneticamente determinada que acarreta intenso aumento da massa do ventrículo esquerdo (VE). A obstrução da via de saída do ventrículo esquerdo (VSVE) tem comportamento dinâmico e pode causar sintomas, como dispneia, dor torácica e síncope. Destacamos aqui um caso tratado com o mavacanteno, o primeiro da uma classe de inibidor seletivo, alostérico e reversível da miosina cardíaca, específico para a fisiopatologia da CMH. RELATO DE CASO: MR, sexo feminino, 77 anos, hipertensa e dislipidêmica. Dispneia classe funcional III associado a episódios de tontura e palpitação de início há 1 ano, com piora progressiva. Ao exame: sopro sistólico em foco aórtico com aumento pós manobra de valsava, pressão arterial de 120x70mmHg e frequência cardíaca (FC) de 82bpm. NTpro-BNP de 486 e eletrocardiograma com ritmo sinusal, hipertrofia do VE e aumento de átrio esquerdo. Ecocardiograma (ECO): septo de 16mm, fração de ejeção (FE) de 59%, gradiente VSVE de 75mmHg no repouso e 120mmHg com manobra de valsava, insuficiência mitral moderada com presença de movimento sistólico anterior da valva mitral. Teste genético negativo. Ressonância magnética: discreto edema miocárdico com realce tardio juncional de 5% da massa de VE. Diagnosticada com cardiomiopatia hipertrófica, foi iniciado o uso de selozok 50mg com bom controle da FC para 58bpm, porém paciente sem melhora dos sintomas. Foi então associado o Mavacanteno 5mg. Paciente evoluiu após 2 meses de uso da medicação com resolução completa da queixa de dispneia e no ECO com GVSVE máximo de 13mmHg. Paciente com titulação da medicação, com resultados mantidos após 8 meses de uso do remédio, como evidenciado na tabela 1. DISCUSSÃO E CONCLUSÃO: O uso de mavacanteno demonstrou ser uma abordagem promissora, não invasiva, no tratamento da cardiomiopatia hipertrófica, proporcionando significativa melhora dos sintomas e redução do gradiente VSVE.

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INTRODUÇÃO: O reparo transcateter borda a borda utilizando o dispositivo MitraClip é uma ótima alternativa para tratar pacientes com insuficiência mitral e com alto risco cirúrgico. No entanto, a eficácia e segurança da nova geração de MitraClip versus as gerações anteriores não estão bem estabelecidas. OBJETIVO: Portanto, nosso objetivo foi realizar uma meta-análise explorando as gerações de MitraClip no reparo borda a borda da valva mitral por transcateter. MÉTODOS: Pesquisamos no PubMed, Embase e Cochrane Central estudos comparando dispositivos MitraClip de quarta geração com as gerações mais precoces em pacientes com regurgitação mitral (RM) tratados com reparo transcateter borda a borda. Os desfechos foram grau de RM, RM residual >2+, sucesso técnico, sucesso do dispositivo, número de clipes, NYHA III ou IV e mortalidade por todas as causas. A análise estatística foi realizada utilizando o programa R (versão 4.3.2). A heterogeneidade foi avaliada com estatística I2. RESULTADOS: Incluímos 2.123 pacientes de 6 estudos observacionais. Os resultados agrupados não revelaram diferença estatisticamente significativa no grau de RM ≤ 2+ após o procedimento (95,9% vs 95,7%; OR 1,05; IC 95% 0,68 - 1,62; p=0,839; I2 =0%), grau de RM ≤ 1+ após procedimento (OR 0,97; IC 95% 0,71 - 1,32; p=0,857; I2 =42%), sucesso do dispositivo (OR 1,20; IC 95% 0,87 - 1,68; p=0,275; I2 =0%), sucesso técnico (OR 0,98; IC 95% 0,66 - 1,46; p=0,919; I2 =0%) entre grupos de quarta geração e gerações iniciais. Entretanto, a opção pelo MitraClip de quarta geração em pacientes com insuficiência mitral foi associada a um maior número de pacientes que necessitaram de apenas 1 clipe durante o procedimento (OR 2,06; IC 95% 1,23 - 3,46; p = 0,007; I2 = 0%). CONCLUSÃO: Os dados desta meta-análise revelaram que não houve diferença significativa na redução da regurgitação mitral, na taxa de pacientes com NYHA III e IV e na mortalidade por todas as causas entre as gerações de MitraClip. Embora o uso da quarta geração estivesse associado a uma menor necessidade de clipes durante o procedimento.

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The purpose of this review is to present a comprehensive overview of the literature published up to February 2024 on the PubMed database regarding the development of mitral valve disease, with detailed reference to mitral valve prolapse, from embryology to a genetic profile. Out of the 3291 publications that deal with mitral valve embryology, 215 refer to mitral valve genetics and 83 were selected for further analysis. After reviewing these data, we advocate for the importance of a gene-based therapy that should be available soon, to prevent or treat non-invasively the valvular degeneration.

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OBJECTIVES: Degenerative mitral regurgitation is associated with heart failure, arrhythmia and mortality. The impact of sex on timing of surgical referral and outcomes has not been reported comprehensively. We examined preoperative status and surgical outcomes of male versus female degenerative mitral valve regurgitation patients undergoing surgery. METHODS: We reviewed our institutional database for all patients undergoing surgery for degenerative mitral regurgitation between 2013 and 2021. Preoperative clinical and echocardiographic variables, surgical characteristics and outcomes were compared, and left atrial strain in available images. RESULTS: Of 963 patients, 314 (32.6%) were female. Women were older (67 vs 64 years, P = 0.031) and more often had bileaflet prolapse (19.4% vs 13.8%, P = 0.028), mitral annular calcification (12.1% vs 5.4%, P < 0.001) and tricuspid regurgitation (TR; 31.8% vs 22.5%, P = 0.001). Indexed left ventricular end-diastolic and end-systolic diameters were higher in women, with 29.4 vs 26.7 mm/m2 (P < 0.001) and 18.2 vs 17 mm/m2 (P < 0.001), respectively, and left atrial conduit strain lower (17.6% vs, 21.2%, P = 0.001). Predicted risk of mortality was 0.73% vs 0.54% in men (P = 0.023). Women required mechanical circulatory support more frequently (1.3% vs 0%, P = 0.011), had longer intensive care unit stay (29 vs 26 h, P < 0.001), mechanical ventilation (5.4 vs 5 h, P = 0.036), and overall hospitalization (7 vs 6 days, P < 0.001). There was no difference in long-term reoperation-free survival (P = 0.35). CONCLUSIONS: Women undergoing mitral valve repair are older and show indicators of more advanced disease with long-standing left ventricular impairment. Guidelines may need to be adjusted and address this disparity, to improve postoperative recovery times and outcomes.

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Transesophageal echocardiography (TEE) plays an important role for real-time procedural guidance during surgical smyectomy (SM) for hypertrophic obstructive cardiomyopathy (HOCM). We aimed to compare (1) interventricular septum (IVS) thickness using 2- (2D) and 3-dimensional (3D) intraoperative TEE and preoperative cardiac magnetic resonance (CMR) and (2) mitral valve (MV) leaflet length using 2D, 3D TEE, automatic quantification of mitral valve (AMVQ) and preoperative CMR. We prospectively studied 50 patients with HOCM (age 59 ± 12 years, 44% men) who underwent SM during 2018 to 2019. The maximal basal, mid, and distal anteroseptum (AS) and inferoseptum (IS) were measured by multiplanar 3D reconstruction on TEE and by short-axis imaging on preoperative CMR and classified as mild (≤18 mm), moderate (18 to 25 mm), or severe (≥25 mm) groups based on AS and IS thickness on CMR. MV leaflet lengths were evaluated by preoperative CMR and intraprocedural 2D TEE, zoom 3D TEE, and AMVQ (EchoPAC, General Electric, Wisconsin). There was a moderate correlation between AS and IS thickness on 3D TEE and CMR (R2 = 0.46, p <0.01 and R2 = 0.41, p <0.01, respectively), with 3D TEE showing an average overestimation of 3.8 and 4.7 mm versus CMR. The 3D TEE overestimated 14 patients (56%) with mild thickness as moderate and 5 patients (22%) with moderate thickness as severe. Assuming 3D TEE as the gold standard, the closest correlation for anterior mitral leaflet length was with CMR (average overestimation by CMR of 0.5 mm [root mean square deviation (RMSE%) 17]), intermediate correlation with 2D TEE (average deviation of 0.6 mm [RMSE% 21]) and no correlation with AMVQ (average deviation of 0.7 mm [RMSE% 24]). In conclusion, 3D TEE overestimates IVS thickness versus CMR in patients with HOCM who underwent SM, with greater discrepancy in those with thinner IVS. There are significant differences in MV lengths measured using different imaging techniques.

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Left ventricular outflow tract obstruction is a rare complication following transcatheter mitral valve implantation. Diagnosing the underlying cause is mandatory to select from different treatment options. We report a case of stent-graft implantation into the left ventricular outflow tract for dynamic left ventricular outflow tract obstruction caused by systolic anterior motion of the anterior mitral valve leaflet (SAM).

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BACKGROUND: Cleft in the mitral valve leaflet is a primary cause of congenital mitral regurgitation, stemming from developmental anomalies in the mitral valve and frequently associated with other congenital heart defects. Concurrent presence of cleft in mitral valve leaflet with atrial septal defect and ventricular septal defect is relatively rare. Echocardiography, especially transesophageal echocardiography, is essential in diagnosing cleft mitral valve leaflet and related congenital heart defects, providing critical, detailed imagery for accurate assessment. This study presents a young female patient whose anterior mitral cleft, along with atrial septal defect and ventricular septal defect, was revealed through three-dimensional transesophageal echocardiography. CASE PRESENTATION: A 25-year-old Iranian female, experiencing progressive dyspnea and diminished physical capacity over 3 months, was referred to our hospital. Initial examination and transthoracic echocardiography indicated severe mitral regurgitation. Further evaluation with transesophageal echocardiography corroborated these findings and identified a cleft in the anterior mitral valve leaflet, coupled with mild left ventricular enlargement and significant left atrial enlargement. The complexity of the patient's condition was heightened by the diagnosis of cleft mitral valve leaflet in conjunction with atrial septal defect and ventricular septal defect, showing the complex nature of congenital defects. CONCLUSION: This case emphasizes the critical role of transthoracic echocardiography in diagnosing cleft of mitral valve leaflet and associated cardiac anomalies, showcasing its superiority over transthoracic echocardiography for detailed visualization of cardiac structures. The identification of multiple congenital defects highlights the necessity for a comprehensive diagnostic approach to manage and treat patients with complex congenital heart diseases effectively. Future research should aim to refine diagnostic methodologies to enhance patient outcomes for cleft of mitral valve leaflets and related congenital conditions.

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BACKGROUND: It is uncertain which percutaneous balloon mitral valvuloplasty (PBMV) success definitions should be used because there are no studies comparing the effects of these definitions on subsequent outcomes. We evaluated the association between 3 success definitions and long-term clinical outcomes in patients with rheumatic mitral stenosis who underwent PBMV. METHODS AND RESULTS: This multicenter retrospective study included patients with severe rheumatic mitral stenosis who underwent PBMV. Three definitions were used as follows: (A) post-PBMV mitral valve area (MVA) ≥1.5 cm2 or ≥50% increase in MVA with MR <3+; (B) post-PBMV MVA ≥1.5 cm2 and MR ≤2+; and (C) post-PBMV MVA ≥1.5 cm2 or ≥50% increase in MVA, with no more than 1-grade increment in MR. Multivariable Cox regression analyses were performed to evaluate the associations between PBMV success and the composite of all-cause mortality, mitral surgery, and repeat PBMV. Successful PBMV, according to definitions A, B, and C was associated with a lower risk of the composite outcomes (definition A-hazard ratio [HR], 0.55 [95% CI, 0.43-0.69], definition B-HR, 0.55 [95% CI, 0.43-0.69], definition C-HR, 0.55 [95% CI, 0.44-0.69]). Patients meeting all 3 success definitions had the lowest risk compared with those who did not meet any definition or met 1 or 2 definitions. CONCLUSIONS: All 3 success definitions had a prognostic impact on outcomes. Patients who achieved post-PBMV MVA ≥1.5 cm2, irrespective of the percentage increase in MVA, and MR ≤grade 2, with no more than a 1-grade increment in MR, had the most favorable outcomes.

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