1/133. Bacterial endocarditis in a patient with Marfan's syndrome.A patient with Marfan's syndrome and subacute bacterial endocarditis is presented. Echocardiographic studies demonstrated dilatation of the aortic root, prolapse of the posterior leaflet of the mitral valve, and the appearance of shaggy echoes on the anterior miltral leaflet, of the kind previously described as representing bacterial vegetations.- - - - - - - - - - ranking = 1keywords = prolapse, valve (Clic here for more details about this article) |
2/133. Clinical, pathological and molecular genetic findings in a case of neonatal marfan syndrome.An infant with neonatal marfan syndrome is described who presented with arachnodactyly, distinctive dysmorphic features and prolapse of both atrioventricular valves and dilatation of both the aortic and pulmonary root. She died in cardiac failure shortly after pacemaker implantation, due to dysrhythmia and severe mitral insufficiency. At autopsy, apart from myxomatous changes of the valves and dilated aortic and pulmonary roots, an aneurysm of the sinus of valsalva of the pulmonary valve and abnormal myxomatous connective tissue surrounding the AV node were also found. Molecular genetic studies showed a point mutation in the fibrillin 1 gene that creates a new N-glycosylation site, which has been described once before.- - - - - - - - - - ranking = 1.9982978735733keywords = prolapse, valve (Clic here for more details about this article) |
3/133. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal marfan syndrome.The marfan syndrome is an autosomal dominant heritable disorder of connective tissue that involves principally the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum, the neonatal marfan syndrome (nMFS), is characterized by pronounced atrioventricular valve dysfunction, and death often occurs within the first year of life due to congestive heart failure. Mutations in the gene coding for fibrillin-1, FBN1, are known to cause marfan syndrome, and have been identified in almost all exons of FBN1. Here, we describe a novel mutation affecting the invariant 1 position of the splice donor site in intron 31, associated with skipping of exon 31, in a patient with nMFS. Published reports of nMFS are reviewed and a strict definition for nMFS is suggested. If this definition is used, all nMFS mutations reported to date lie in one of two hot spots, comprising mainly missense mutations in FBN1 exons 24-27 and mutations causing skipping of exon 31 or 32.- - - - - - - - - - ranking = 0.52700361204909keywords = valve, heart (Clic here for more details about this article) |
4/133. Mitral valve replacement through dilated aortic annulus in Marfan's syndrome.A 30-year-old man presented with severe aortic regurgitation due to an ascending aortic aneurysm and mitral valve insufficiency in conjunction with active endocarditis. He underwent combined aortic root replacement by a composite graft and mechanical mitral valve replacement. After excision of the aortic valve cusps the mitral valve was approached through the extremely dilated aortic annulus. This technique is seldom used. Mitral valve replacement through the aortic root can be advantageous in selected patients to minimize trauma and reduce myocardial ischemic time.- - - - - - - - - - ranking = 4.4923404310798keywords = valve (Clic here for more details about this article) |
5/133. Neonatal marfan syndrome: a case report.A case of neonatal marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members.- - - - - - - - - - ranking = 0.52700361204909keywords = valve, heart (Clic here for more details about this article) |
6/133. Acute mitral regurgitation due to chordal rupture in a patient with neonatal marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.The neonatal marfan syndrome is an autosomal dominantly inherited disease with an extremely poor prognosis. This report gives a clinical and echocardiographic description of an infant with a mutation in exon 29 of the fibrillin-1 gene (FBN1), a region in which this severe form of marfan syndrome seems to cluster. The infant died at the age of 3 months due to severe acute mitral regurgitation leading to intractable heart failure.- - - - - - - - - - ranking = 0.027854675262445keywords = heart (Clic here for more details about this article) |
7/133. Aortic root dilation in apparent Lujan-Fryns syndrome.We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been 4 cases reported in the literature with heart findings, ventricular septal defect and aortic root dilation have not been previously reported in LFS. Differentiation between LFS and marfan syndrome (MS) is discussed. The pathophysiology of LFS as a connective tissue disorder is also considered.- - - - - - - - - - ranking = 0.027854675262445keywords = heart (Clic here for more details about this article) |
8/133. Congenital heart disease in pregnancy.The clinical cases of three patients affected respectively by Eisenmerger's syndrome, marfan syndrome, coarctation of the aorta are described. All patients belonged to NYHA class I or II. During pregnancy contact with cardiologists, anaesthetists, neonatologists was maintained and this allowed accurate management. Both pregnancy and delivery evolved without any complication and with a positive outcome for mother and newborn.- - - - - - - - - - ranking = 0.11141870104978keywords = heart (Clic here for more details about this article) |
9/133. Simultaneous repair of cardiovascular disorders and pectus deformity in a patient with Sprintzen-Goldberg syndrome: A case report.We report a 12-year-old girl with Sprintzen-Goldberg syndrome (SGS) who was complicated with annuloaortic ectasia with aortic regurgitation, mitral valve prolapse with mitral regurgitation, and a severe pectus excavatum. In this patient, aortic root replacement, mitral valve replacement, and sternal elevation were simultaneously performed, and a version of Ravitch's procedure that was technically modified to support the sternum was used for sternal elevation. This modified sternal elevation technique gave excellent operative exposure, and maintained chest wall stability after the operation.- - - - - - - - - - ranking = 28.862757097143keywords = valve prolapse, prolapse, valve (Clic here for more details about this article) |
10/133. Combined heart transplantation and resection of dissecting aneurysm of ascending aorta and aortic arch: a case report.A 21-year-old male patient had suffered from palpitation and exertional dyspnea since October, 1997. He was admitted to our hospital, and a series of examinations were performed. Chest computed tomography (CT) revealed marked dilatation of the ascending aorta (about 7.5 cm at the proximal portion) and aortic annulus, an intimal flap in the ascending aorta and aortic arch was also noted. cardiac catheterization revealed the pulmonary capillary wedge pressure was 33 mmHg, pulmonary artery pressure was 47/38 mmHg with a mean of 35.4. The cardiac index was 1.01 l/min/m2. Poor left ventricular contractility was shown by a left ventricular ejection fraction (LVEF) of 13.8% and a right ventricular ejection fraction (RVEF) of 5.13% by a radionuclide angiogram (rna) study. Under the diagnosis of dilated cardiomyopathy and dissecting aortic aneurysm of the ascending aorta and aortic arch, he was put on a waiting list for heart transplantation. On November 11, 1997 he received heart transplantation. Resection of the dissecting aneurysm of the ascending aorta and the aortic arch and replacement with a 26 mm Vascutek graft were performed first under deep hypothermia and retrograde cerebral perfusion. Then while he was rewarming up, heart implantation was performed. He was discharged 30 days after surgery and has been doing well since then. As far as we know, no literature regarding combined heart transplantation and resection of a dissecting aneurysm of the ascending aorta and aortic arch has been reported.- - - - - - - - - - ranking = 0.22283740209956keywords = heart (Clic here for more details about this article) |
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