Résumé
A disjunção do anel mitral (DAM) é uma inserção anormal da linha de flexão do anel mitral na parede atrial. O anel mostra uma separação (disjunção) entre a junção folheto posterior-parede atrial e a crista miocárdica ventricular esquerda.1 A DAM foi descrita pela primeira vez há mais de 30 anos em estudo de autópsia, estando relacionada com prolapso da valva mitral (PVM) em 92% dos casos.2 Desde então, foram realizados diversos estudos, sendo a prevalência de DAM em pacientes com PVM reportada de forma variável, podendo ou não estar associada à insuficiência mitral. O ecocardiograma transtorácico (ETT) faz parte da avaliação inicial do prolapso valvar mitral, permitindo o diagnóstico e a avaliação de complicações relacionadas. Com a evolução de novos métodos diagnósticos, a ressonância magnética cardíaca (RMC) e o ecocardiograma transesofágico (ETE) passaram a aprimorar a avaliação dessa patologia, bem como de sua extensão e localização. Contudo, as características fenotípicas do PVM que estão mais associadas a DAM permanecem incertas, sobretudo devido ao número limitado de pacientes, nos estudos clássicos sobre o tema. Portadores de DAM podem desenvolver sintomas relacionados a arritmias ventriculares, configurando a síndrome arrítmica da DAM (SDAM), podendo evoluir para morte súbita. Na literatura, os dados prognósticos ainda são conflitantes entre os diversos estudos acerca do tema, indo desde critérios claros de diagnóstico, o melhor método de imagem a ser aplicado, o tratamento e o prognóstico. Esta revisão descreve as características da DAM associada ou não ao prolapso valvar, auxiliando no diagnóstico e na conduta dessa importante patologia. (AU)
Mitral annulus disjunction (MAD) is an abnormal insertion of the flexion line of the mitral annulus into the atrial wall. The annulus presents a separation (disjunction) between the posterior leafletatrial wall junction and the left ventricular myocardial crest.1 MAD was first described more than 30 years ago in an autopsy study and is reportedly related to mitral valve prolapse (MVP) in 92% of cases.2 Since then, several studies have been conducted, and reports on the prevalence of MAD in patients with MVP have varied. Ultimately, it may or may not be associated with mitral regurgitation. Transthoracic echocardiography is part of initial MVP assessment, allowing its diagnosis and the assessment of related complications. As new diagnostic methods emerged, cardiac magnetic resonance imaging and transesophageal echocardiography improved the assessment of this pathology in terms of its diagnosis, extension, and location. However, the phenotypic characteristics of MVP that are more closely associated with MAD remain uncertain mainly due to the limited number of patients in classic studies on the subject. Patients with MAD may develop symptoms related to ventricular arrhythmias, configuring the MAD arrhythmic syndrome, which may progress to sudden death. The literature presents conflicting prognostic data among several studies on the subject from clear diagnostic criteria and best imaging method to be used to treatment and prognosis. This review describes MAD characteristics associated (or not) with valve prolapse to improve the diagnosis and management of this important pathology. (AU)
Sujets)
Humains , Mâle , Femelle , Prolapsus de la valve mitrale/complications , Prolapsus de la valve mitrale/imagerie diagnostique , Insuffisance mitrale/diagnostic , Troubles du rythme cardiaque/complications , Pronostic , Échocardiographie/méthodes , Spectroscopie par résonance magnétique/méthodes , Mort subite cardiaque , Échocardiographie transoesophagienne/méthodes , Atrium du coeur/anatomopathologie , Ventricules cardiaques/malformationsRésumé
Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)
Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)
Sujets)
Humains , Mâle , Adulte , Télangiectasie/diagnostic , Syndrome de Peutz-Jeghers/génétique , Prolapsus de la valve mitrale , Hyperpigmentation , Conseil génétique/éthique , Génétique , Modes de transmission héréditaire/physiologieRésumé
Introducción: La Endocarditis infecciosa sigue desafiando a la Medicina moderna a pesar de no ser una entidad frecuente. Objetivo: Se presenta un caso con una lesión valvular previa no diagnosticada antes, y sin síntomas, y que se consideró el diagnóstico tempranamente de endocarditis en el nivel hospitalario. Presentación del caso: Paciente de 20 años, mujer, con antecedentes de salud referidos, fumadora. Ingresa en sala del Servicio de Medicina el 21 de enero de 2020 por fiebres que se mantienen todo el día de 38-38,50 C, con picos que alcanzan los 400 C con escalofríos en determinados momentos. Desde hace un mes presenta esta sintomatología. Ruidos cardiacos rítmicos, taquicárdicos, de buena intensidad. Clic sistólico con arrastre sistólico fuerte de regurgitación IV/VI audible en foco mitral con frémito que se irradia a la axila, anemia, VSG acelerada, leucocitosis con desviación izquierda, hemocultivos negativos y en ecocardiograma prolapso de válvula mitral, valva anterior y posterior, con regurgitación que ocupa toda la aurícula izquierda hasta el techo de la misma. Múltiples vegetaciones en cara auricular de valva posterior de válvula mitral, la mayor de 7 x 3 mm. Conclusiones: El método clínico es fundamental en el proceso diagnóstico en la práctica clínica secundado por los medios diagnósticos como en la enfermedad que nos ocupa(AU)
Introduction: Infective endocarditis continues to be a great challenge for modern medicine although it is not a frequent entity. Objective: We present a case of an undiagnosed previous valve lesion without symptoms. The early diagnosis of endocarditis was made at the hospital level. Case Presentation: A 20-year-old woman, smoker, with previous history of good health was admitted to the medical ward on January 21, 2020. The patient reported continuous fever (38-38,50 C) throughout the day, with spikes up to 400 C and intermittent chills. She has been having these symptoms for a month. Rhythmic heart sounds and high intensity tachycardia and systolic click with strong systolic displacement of regurgitation grade IV/VI audible in mitral area with fremitus radiating to the armpit were heard. Anemia, accelerated ESR, leukocytosis with left deviation, and negative blood cultures were confirmed. The echocardiogram showed a mitral valve prolapse with regurgitation of anterior and posterior valves that occupies all the left atrium until its top. There was multiple vegetation in the atrial side of the posterior leaflet of the mitral valve; the greatest is 7 x 3 mm. Conclusions: The clinical method is essential in the diagnostic process performed in clinical practice supported by diagnostic means, as in the current case(AU)
Sujets)
Humains , Femelle , Jeune adulte , Prolapsus de la valve mitrale/diagnostic , Prolapsus de la valve mitrale/prévention et contrôle , Diagnostic précoce , Endocardite/diagnostic , Hémoculture/méthodesSujets)
Humains , Mâle , Prolapsus de la valve mitrale/complications , Prolapsus de la valve mitrale/imagerie diagnostique , Échocardiographie tridimensionnelle , Infarctus du myocarde avec sus-décalage du segment ST/imagerie diagnostique , Insuffisance mitrale/imagerie diagnostique , Prolapsus , Valve atrioventriculaire gauche/imagerie diagnostiqueSujets)
Humains , Sujet âgé , Rhumatismes/étiologie , Prolapsus de la valve mitrale/étiologie , Insuffisance mitrale/classification , Insuffisance mitrale/complications , Insuffisance mitrale/imagerie diagnostique , Procédures de chirurgie opératoire/méthodes , Échocardiographie/méthodes , Maladie chronique/classification , Prévalence , Échocardiographie-doppler couleur/méthodes , Échocardiographie de stress/méthodes , Études d'évaluation comme sujet , Annuloplastie mitrale/méthodesRésumé
OBJECTIVE: We aimed to investigate the diagnostic accuracy of cardiac computed tomography (CT) for the detection of mitral valve (MV) prolapse in mitral regurgitation (MR) with surgical findings as the standard reference, and to assess the predictability of MV replacement based on morphologic CT findings. MATERIALS AND METHODS: A total of 156 patients who had undergone preoperative cardiac CT and subsequently received MV surgery due to severe MR were retrospectively enrolled. Non-repairable MV was defined when at least one of the following conditions was met: 1) anterior leaflet prolapse, 2) bi-leaflet prolapse, or 3) valve morphology (leaflet thickening, calcification, or mitral annular calcification [MAC]). Diagnostic performance of CT for the detection of the prolapsed segment was assessed with surgical findings as the standard reference. Logistic regression analysis was performed to evaluate the value of CT findings to predict actual valve replacement. RESULTS: During surgery, MV prolapse was identified in 72.1%. The sensitivity, specificity, and diagnostic accuracy for the detection of MV prolapse were 99.1%, 81.4%, and 94.2%, respectively, per patient. One-hundred eighteen patients (75.6%) underwent MV repair and the remaining 38 patients received MV replacement. Bi-leaflet prolapse and valve morphology were independent predictors of valve replacement after adjusting for clinical variables (adjusted odds ratio, [OR] 8.63 for bi-leaflet prolapse; OR, 4.14 for leaflet thickening; and OR, 5.37 for leaflet calcium score > 5.6; p < 0.05). CONCLUSION: Cardiac CT can have high diagnostic performance for detecting the prolapsed segment of the MV and predictability of valve replacement before surgery. Bi-leaflet prolapse and valve morphology, such as leaflet thickening, or calcification or MAC, are the most important predictors of valve replacement.
Sujets)
Humains , Calcium , Modèles logistiques , Insuffisance mitrale , Prolapsus de la valve mitrale , Valve atrioventriculaire gauche , Odds ratio , Prolapsus , Études rétrospectives , Sensibilité et spécificitéRésumé
A 58-year-old male patient with situs inversus totalis, a rare congenital malformation characterized by all asymmetric organs being formed as the mirror images of their normal morphologies, underwent mitral valve repair due to mitral valve prolapse. This case was reported to suggest that anesthesiologists should thoroughly understand the anatomy of these types of patients before providing cardiac anesthesia that often requires advanced monitoring and rely on their accurate interpretation. Accordingly, a few key points will be discussed with emphasis on reversing lead placement during electrocardiogram monitoring, using the left internal jugular vein for pulmonary artery catheterization, and firmly comprehending mirror image heart morphology to better conduct transesophageal echocardiography.
Sujets)
Humains , Mâle , Adulte d'âge moyen , Anesthésie , Cathétérisme par sonde de Swan-Ganz , Échocardiographie transoesophagienne , Électrocardiographie , Coeur , Veines jugulaires , Valve atrioventriculaire gauche , Prolapsus de la valve mitrale , Situs inversus , Chirurgie thoraciqueRésumé
Genome-wide association study (GWAS) is a powerful tool for identifying the genetic causes of various diseases. This study was conducted to identify genomic variation in Maltese dog genomes associated with degenerative mitral valve disease (DMVD) development and to evaluate the association of each biological condition with DMVD in Maltese dogs. DNA was extracted from blood samples obtained from 48 Maltese dogs (32 with DMVD and 16 controls). Genome-wide single nucleotide polymorphism (SNP) genotyping was performed. The top 30 SNPs from each association of various conditions and genetic variations were mapped to their gene locations. A total of 173,662 loci were successfully genotyped, with an overall genotype completion rate of 99.41%. Quality control analysis excluded 46,610 of these SNPs. Manhattan plots were produced using allelic tests with various candidate clinical conditions. A significant peak of association was observed between mitral valve prolapse (MVP) and SNPs on chromosome 17. The present study revealed significant SNPs in several genes associated with cardiac function, including PDZ2, Armadillo repeat protein detected in velo-cardio-facial syndrome, catenin (cadherin-associated protein) alpha 3, low-density lipoprotein receptor class A domain containing protein 4, and sterile alpha motif domain containing protein 3. To our knowledge, this is the first study of a genetic predisposition to DMVD in Maltese dogs. Although only a limited number of cases were analyzed, these data could be the basis for further research on the genetic predisposition to MVP and DMVD in Maltese dogs.
Sujets)
Animaux , Chiens , Tatous , Chromosomes humains de la paire 17 , Syndrome de DiGeorge , ADN , Prédisposition génétique à une maladie , Variation génétique , Génome , Étude d'association pangénomique , Génotype , Prolapsus de la valve mitrale , Valve atrioventriculaire gauche , Polymorphisme de nucléotide simple , Contrôle de qualité , Récepteurs aux lipoprotéinesRésumé
Abstract Mitral valve prolapse is a benign condition. Mitral regurgitation is only complicated in patients with severe mitral valve prolapse. Women with mitral valve prolapse in the absence of other cardiovascular disorders tolerate pregnancy well and do not develop remarkable cardiac complications. Nevertheless, serious complications of mitral valve prolapse, including arrhythmia, infective endocarditis and cerebral ischemic events, can be present in pregnancy. Debates remain with regard to the use of prophylactic antibiotics and β-blockers in the pregnant women with mitral valve prolapse. The prognosis of the pregnant patients might be closely related to the pathological and (or) functional changes of the mitral valve. Non-myxomatous mitral valve prolapse poses no or little obstetric risks in terms of pregnancy, labor and neonatal complications; whereas myxomatous mitral valve prolapse is a major etiology of valvular heart disease in women of childbearing age. In the pregnant patients with mitral valve prolapse progressing into major complications, surgical interventions are considered. Medicinal treatment of such patients with β-blockers should be a concern for the fetal safety.
Sujets)
Humains , Femelle , Grossesse , Complications cardiovasculaires de la grossesse/traitement médicamenteux , Prolapsus de la valve mitrale/traitement médicamenteux , Agonistes bêta-adrénergiques/usage thérapeutique , Complications cardiovasculaires de la grossesse/diagnostic , Pronostic , Issue de la grossesse , Prolapsus de la valve mitrale/diagnostic , Insuffisance mitrale/diagnosticRésumé
A adaptação à sobrecarga crônica de volume na insuficiência mitral (IM) tende a aumentar o átrioesquerdo (AE), predispondo a disfunção atrial e arritmias. Embora as dimensões do AE tragam importante informação prognóstica, a função contrátil atrial não tem sido estudada consistentemente na IM. Objetivo: O objetivo deste estudo foi analisar a função atrial em pacientes com IM por cardiopatia reumática (CR) eprolapso valvar mitral (PVM). Métodos: Foram estudados 54 pacientes com IM importante, com área do orifício regorgitante efetivo (ERO) ≥ 0,40 cm2,sendo 23 com CR e 31 com PVM, em ritmo sinusal, com fração de ejeção do ventrículo esquerdo (VE) > 60%. Foram medidos diâmetros e massa do VE, volumes do VE e AE (máximo, mínimo e pré-A), fração de esvaziamento total (FEsv.TAE), passiva (FEsv.P AE) e ativa (FEsv.A AE) do AE, para avaliar função. Medidas de Doppler transmitral e tecidual foram obtidas. Resultados: Comparados ao PVM, pacientes com CR eram mais jovens (35 ± 11 versus 55 ± 13 anos; p < 0,05) e do sexo feminino (17 versus 7 mulheres; p < 0,05); o índice de massa do VE foi maior no grupo PVM. O volume atrial máximo foiigual para os grupos, com maior volume mínimo (56,9 ± 30 versus 41,6 ± 17 mL; p = 0,02) e consequentemente menor FEsv.A AE (0,41 ± 0,11 versus 0,47 ± 0,07; p = 0,03) e FEsv.A AE (0,20 ± 0,08 versus 0,27 ± 0,07; p < 0,001) para o grupo CR. Conclusão: Embora mais jovens, pacientes com IM de etiologia reumática apresentam maior comprometimento da função atrial comparados a pacientes com PVM, possivelmente refletindo o acometimento do miocárdio atrial peladoença...
Adaptation to chronic volume overload in patients with mitral insufficiency (MI) tends to increase left atrium (LA), leading to LA dysfunction and arrhythmias. Though LA dimension is a well-known cardiovascular risk predictor, LA contractile function has not been thoroughly assessed in patients with MI of distinct etiologies. Objective: We aimed to assess LA structure and function in patients with MI due to rheumatic heart disease (RHD) and mitral valve prolapse (MVP). Methods: We assessed 54 patients with severe MI, defined by an effective regurgitant orifice (ERO) ≥ 0.40 cm2, 23 with RHD and 31 with MVP, all in sinus rhythm and with left ventricular (LV) ejection fraction > 60%. We measured LV diameters and mass, and also volumes (Simpson) to assess function, including maximal, minimal and pre-atrial contraction volumes, and total (TLAEF), passive (PLAEF) and active (ALAEF) LAemptying fraction. Transmitral and tissue Doppler measurements were obtained. Results: Compared to MVP, patients with RHD were younger (35 ± 11 versus 55 ± 13 years) and mainly female (17 versus 7 female; p < 0.05);LV mass index was higher for MVP patients. Although LA maximal volume was similar for both groups, patients with RHD had higher minimal LA volumes (56.9 ± 30 versus 41.6 ± 17 ml; p = 0.02), resulting in lower TLAEF (0.41 ± 0.11versus 0.47 ± 0.07; p = 0.03) and ALAEF (0.20 ± 0.08versus 0.27 ± 0.07; p < 0.001). Conclusion: Although younger, patients with MI due to RHD present with more severe LA dysfunction compared to MVP, possibly reflecting direct atrial impairment from rheumatic heart disease...
Sujets)
Humains , Mâle , Femelle , Adulte , Adulte d'âge moyen , Rhumatisme cardiaque/diagnostic , Rhumatisme cardiaque/thérapie , Fonction auriculaire gauche/physiologie , Insuffisance mitrale/étiologie , Prolapsus de la valve mitrale/étiologie , Maladie chronique/thérapie , Échocardiographie-doppler couleur/méthodes , Échocardiographie/méthodes , Atrium du coeur , Valve atrioventriculaire gauche , Études prospectives , Interprétation statistique de données , Débit systolique/physiologieRésumé
BACKGROUND AND OBJECTIVES: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. SUBJECTS AND METHODS: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included. RESULTS: The mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. CONCLUSION: We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was identified in approximately half of patients. Our findings will be informative for the evaluation of patients with MFS.
Sujets)
Humains , Mâle , Anévrysme de l'aorte , Asiatiques , Tissu conjonctif , Démographie , Diagnostic , Dilatation , Ectopie du cristallin , Études de suivi , Hématome , Corée , Syndrome de Marfan , Prolapsus de la valve mitrale , Phénotype , TestamentsRésumé
Infective endocarditis (IE) caused by methicillin-resistant Staphylococcus aureus (MRSA) has become a worldwide concern. We present a case of a 12-year-old child with IE of the native mitral valve due to MRSA infection after an invasive dental procedure. Based on the clinical symptoms and the presence of cerebrospinal fluid pleocytosis, the patient was initially diagnosed with presumed bacterial meningitis and treated with empiric antibiotics. On the third day of hospitalization, MRSA was cultured from the initial blood samples and vegetation was observed on the mitral valve during an echocardiogram, findings which are compatible with a diagnosis of IE. The revised guidelines for antibiotic prophylaxis for the prevention of IE advise that IE prophylaxis for dental procedures is reasonable only for patients with underlying cardiac conditions, who are at the highest risk of adverse outcomes from IE. However, in this case, the patient had no high risk factors indicative of IE prophylaxis, except for mitral valve prolapse. She had no recurrence of IE over a follow-up period of 12 months.
Sujets)
Enfant , Humains , Antibactériens , Antibioprophylaxie , Liquide cérébrospinal , Diagnostic , Endocardite , Études de suivi , Hospitalisation , Hyperleucocytose , Méningite , Méningite bactérienne , Résistance à la méticilline , Staphylococcus aureus résistant à la méticilline , Valve atrioventriculaire gauche , Prolapsus de la valve mitrale , Récidive , Facteurs de risqueRésumé
Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.
Sujets)
Enfant , Femelle , Humains , Arachnodactylie , Codage clinique , Codon non-sens , Tissu conjonctif , Cytosine , Exons , Syndrome de Marfan , Microfibrilles , Prolapsus de la valve mitrale , Mutation faux-sens , Myopie , Parents , Pneumothorax , Puberté précoce , Scoliose , PoignetRésumé
STUDY DESIGN: Retrospective study. PURPOSE: To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. OVERVIEW OF LITERATURE: Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. METHODS: Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. RESULTS: We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). CONCLUSIONS: We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups.
Sujets)
Femelle , Humains , Anévrysme , Valve aortique , Sténose aortique , Prémolaire , Cardiomyopathies , Dextrocardie , Échocardiographie , Foramen ovale perméable , Communications interauriculaires , Communications interventriculaires , Incidence , Dossiers médicaux , Prolapsus de la valve mitrale , Études rétrospectives , ScolioseRésumé
STUDY DESIGN: Retrospective study. PURPOSE: To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. OVERVIEW OF LITERATURE: Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. METHODS: Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. RESULTS: We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). CONCLUSIONS: We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups.
Sujets)
Femelle , Humains , Anévrysme , Valve aortique , Sténose aortique , Prémolaire , Cardiomyopathies , Dextrocardie , Échocardiographie , Foramen ovale perméable , Communications interauriculaires , Communications interventriculaires , Incidence , Dossiers médicaux , Prolapsus de la valve mitrale , Études rétrospectives , ScolioseRésumé
O implante transcateter de MitraClip é uma opção promissora de tratamento da insuficiência mitral (IM) em pacientes com risco cirúrgico elevado. Neste relato, descreve-se o caso de paciente nonagenária com IM aguda por ruptura de cordoalha que, devido a risco cirúrgico proibitivo, foi submetida a implante transcateter de MitraClip com sucesso...
MitraClip transcatheter implant is a promising option for treating mitral regurgitation (MR) in patients with high surgical risk. This report describes the case of a nonagenarian patient with acute MR for chordae rupture that, due to prohibitive surgical risk, underwent a successful MitraClip transcatheter implant...
Sujets)
Humains , Femelle , Sujet âgé de 80 ans ou plus , Insuffisance mitrale/thérapie , Prolapsus de la valve mitrale/thérapie , Ventricules cardiaques , Facteurs de risque , Dispositifs d'accès vasculairesRésumé
Background: Transapical off-pump mitral valve intervention with neochord implantation for degenerative mitral valve disease have been recently introduced in the surgical practice. The procedure is performed under 2D-3D transesophageal echocardiography guidance. Methods: The use of 3D real-time transesophageal echocardiography provides more accurate information than 2D echocardiography only in all the steps of the procedure. In particular 3D echocardiography is mandatory for preoperative assessment of the morphology of the valve, for correct positioning of the neochord on the diseased segment , for the final tensioning of the chordae and for the final evaluation of the surgical result. Result and Conclusion: This article is to outline the technical aspects of the transesophageal echocardiography guidance of the NeoChord procedure showing that the procedure can be performed only with a close and continuous interaction between the anesthesiologist and the cardiac surgeon.