Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014118 (endocarditis)
 15,629 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Marfan syndrome is a heritable disease with an autosomal dominant inheritance. Its prevalence is four to six per 100,000 people. It appears to be caused by mutations in a single fibrillin gene on chromosome 15. In its classic form, the Marfan syndrome is associated with abnormalities of the eye, aorta, skeleton, lungs and central nervous system. We describe a case of Marfan syndrome, previously undiagnosed, admitted to the hospital because of persistent fever, caused by an infective endocarditis followed by an acute aortic regurgitation. The purpose of this paper is to increase the awareness of this disorder among clinicians in order to prevent the potentially lethal complications, mostly cardiovascular, that could be avoided by a correct management.
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PMID:[Infectious endocarditis. A form of the presentation of Marfan's syndrome--a clinical case]. 833 95

The Marfan syndrome is an autosomal dominant disorder of the connective tissue with mutations on the fibrillin-1 gene encoding for fibrillin, a major component of the extracellular microfibrils. The prevalence of the syndrome is 7-17/100,000. The mean life expectancy for untreated patients with Marfan syndrome is 32 years with aortic dissection, aortic rupture or cardiac failure due to mitral and aortic valve regurgitation as the predominant cause of death in > 90% of the cases. In severely affected cases with neonatal Marfan syndrome, patients are likely to survive only a few months. According to the literature database the prevalence of aortic dilatation is 76%, 26% for aortic regurgitation, 62% for mitral valve prolapse, and 29% for mitral valve regurgitation in adult patients with classic Marfan syndrome. Pathogenesis and the natural cause of each cardiovascular manifestation is thoroughly discussed with the problems resulting from associated cardiac arrhythmias, sudden cardiac death, endocarditis, and less frequent cardiovascular manifestations of the Marfan syndrome. Special focus is placed on the analysis of cardiovascular complications during pregnancy.
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PMID:[Marfan syndrome: prevalence and natural course of cardiovascular manifestations]. 958 50

Marfan syndrome is an autosomal dominant disorder of the connective tissues, with mutation on the fibrillin-1 gene encoding for fibrillin, a major component of the extracellular microfibrils. The prevalence of the syndrome is 7 to 17 in 100,000. The mean life expectancy for untreated patients with Marfan syndrome is 32 years, with aortic dissection, aortic rupture, or cardiac failure from mitral or aortic valve regurgitation as the predominant cause of death in >90% of patients. However, with optimal clinical management of patients with Marfan syndrome, life expectancy may be improved substantially to a nearly normal life span. Cornerstones of clinical management include modern noninvasive imaging modalities, molecular analysis at the complementary deoxyribonucleic acid/deoxyribonucleic acid level of the fibrillin-1 gene, genetic counseling, lifestyle changes, and cardiovascular surveillance, the latter including regular imaging of the aorta and endocarditis prophylaxis. Prophylactic use of beta-blocking agents, the timing of elective surgery, and the optimal surgical technique are difficult issues that need to be evaluated individually. Juvenile, postoperative, and pregnant patients with Marfan syndrome pose particular problems. The goal of this review is to facilitate differential decision-making based on referenced evidence and to provide guidelines for medical and surgical therapeutic strategies.
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PMID:Therapeutic management of patients with Marfan syndrome: focus on cardiovascular involvement. 1120 45

Marfans syndrome is an Autosomal dominant disorder of the connective tissues resulting in abnormalities of the musculoskeletal system, cardiovascular system and eyes. It has a prevalence of 1 in 100,000 population1 and occurs in all ethnic groups. It may be familial or due to new mutation (30%), in the fibrillin gene on arm of chromosome 15. It is estimated that one person in every 3000-5000 has Marfans syndrome may have cardiovascular abnormalities and may be complicated by infective endocartditis. About 90% of Marfan patients will develop cardiac complications2. The patient under discussion has musculoskeletal (Tall stature, reduced upper-lower segment ratio, arm-span to height ratio > 1.05, high arched palate) and Cardiovascular features (Severe aortic regurgitation complicated with infective endocarditis).
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PMID:Marfan's syndrome with aortic valve endocarditis. 1640 Feb 20

Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS) had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.
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PMID:A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis. 2809 15