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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report the case of a neonate who died early of refractory heart failure and presented with all the characteristics of Marfan's syndrome in its early form with articular retractions. There was clinical evidence of mitral, tricuspid and major aortic regurgitation. Two-dimensional and doppler echocardiography confirmed the prolapse of highly dystrophic valves and the quadrivalvar regurgitation. Typical lesions of the connective-elastic tissue were found at autopsy. The occurrence of malignant Marfan's syndrome in neonates seems to be exceptional; the syndrome may take the rare "en contractures" form. Death is not always ascribable to the cardiac pathology, this pathology being often less generalized than in our case which seems to be the first one where such diffuse and massive valval lesions have been observed. This particular form was comparable to the "congenital polyvalvular disease" described by Bahrati and Lev, except that the skeletal and visceral abnormalities of Marfan's syndrome are absent in that disease.
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PMID:[Malignant quadrivalvular dysplasia of Marfan syndrome in a neonate]. 250 Jan 5

Polyarteritis nodosa developing during gestation has an extremely grave prognosis. To an uncertain extent, this results from a delay in recognition and therapy. The diagnosis of PAN is complicated by the expanded differential of common conditions associated with pregnancy such as pre-eclampsia and toxemia which can present with similar symptoms and signs. On the other hand, the pregnant woman with known, quiescent disease has a much better prognosis with only one of four women experiencing exacerbation. In women with Behcet's disease, convincing reports of both pregnancy-related flares and remissions involving primarily mucocutaneous manifestations are found in the literature. Gestational exacerbation of the more serious manifestations including chorioretinitis, vasculitis and CNS disease does not appear to be a problem. Also, a significant effect on fetal development or survival is not evident. The pregnant woman with the Marfan syndrome and pre-existing cardiovascular disease, particularly dilatation of the aortic root, has a substantially increased risk of developing a major complication during gestation most commonly aortic aneurysm, dissection, rupture or insufficiency. Echocardiographic determination of the aortic root diameter is prognostic with a decreased risk at a diameter of 40 mm or less. A diameter of greater than 40 to 45 mm constitutes a significant contraindication to pregnancy. All pregnancies in patients with the Marfan syndrome are considered high risk and frequent evaluations and echocardiograms are required. The EDS patient is subject to a wide range of gestational complications resulting from the basic connective tissue defect manifested clinically by hyperextensible skin, joint hypermobility, connective tissue and vascular fragility, and poor wound healing. The most serious complications occur in type I EDS (gravis) and type IV (ecchymotic) and include extensive perineal tears and hematoma after vaginal delivery, uterine prolapse and rupture, difficulty in suturing wounds and controlling hemorrhage after cesarean section, spontaneous rupture of major arteries, and bowel perforation. Management of the pregnant patient with the EDS must be individualized after identification of the particular type.
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PMID:Rare inflammatory and hereditary connective tissue diseases. 256 43

Surgery has changed the prognosis of the Marfan's syndrome. Cardiovascular manifestations (aneurysmal dilatation of the aortic root and its risk of dissection, aortic insufficiency, mitral insufficiency due to valvular anomalies) represent the vital risk of the disease and reduce the life expectancy in one-third of these patients during the first 32 years. Twenty seven patients (22 to 53 years of age, mean 38) surgically treated have been followed up to 14 years (mean 6.5 years). 12 had aortic valve and ascending aorta replacement with reimplantation of coronary arteries, 9 had mitral valve replacement and 6 had simultaneous correction of aortic and mitral lesions. All patients survived the operation and late mortality was 18.5% to 14 years, with a long term survival of 90% at 5 and 70% at 10 years. Echocardiographic studies permit nowadays to measure the aortic root diameter, to appreciate the left ventricular function, to reveal a mitral prolapse and to precise valvular insufficiency, in young patients with Marfan's syndrome and during family investigation. Indication of surgical repair can be stated at the right time to prevent dissection, aortic rupture or cardiac failure with excellent and durable long term results.
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PMID:[Cardiovascular complications of Marfan's syndrome: long-term results of surgical treatment]. 263 61

Cardiovascular, skeletal and ophthalmologic manifestations of Marfan's syndrome were evaluated in 36 patients with Marfan's syndrome, including 22 females and 14 males whose ages ranged from 3 to 70 years. The patients complained mainly of palpitations and chest pain. Mitral clicks and/or systolic murmurs were heard in 31 patients (86%); skeletal findings were found in 35 patients (97%) and ECG T-wave changes in 11 (30%). Chest X-rays showed cardiac enlargement in six patients (17%) and dilatation of the aorta in two (6%). Holter monitoring performed in 21 patients showed only a few premature atrial and ventricular beats in 4, although prolapse of the mitral valve was found in 18 patients. Echocardiography revealed mitral valve prolapse in 32 patients (89%), 21 females (95% of females) and 11 males (79% of males). Aortic root dilatation was found in 19 patients (53%). 11 males (79% of males) and 8 females (36% of females). This study demonstrates the variable clinical expression of Marfan's syndrome and the importance of clinical and noninvasive methods, mainly echocardiography, for its evaluation.
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PMID:Cardiovascular, skeletal and ophthalmologic manifestations in patients with Marfan's syndrome. 272 73

The association of primary mitral valve prolapse (MVP) with thoracic bony abnormalities has led to the suggestion that MVP may be a forme fruste of the Marfan syndrome. Echocardiographic, skeletal and anthropometric findings in 59 subjects with primary MVP and 59 age- and sex-matched patients with Marfan syndrome were compared with those in 59 control subjects. Subjects with mitral prolapse were similar to control subjects and differed (p less than 0.025 to p less than 0.001) from the patients with Marfan syndrome in aortic root dimensions, height, arm span, upper/lower segment ratio and prevalences of arachnodactyly, scoliosis and pectus carinatum. Subjects with mitral prolapse and patients with Marfan syndrome had similar body mass indexes and prevalences of pectus excavatum and straight back. All 3 groups were similar in arm span/height ratio. The 5 subjects with MVP and arachnodactyly had lower weights, smaller body surface areas and smaller aortic root dimensions, and were more likely to have scoliosis than subjects with MVP without arachnodactyly. Thus, primary MVP differs from the Marfan syndrome in all major skeletal and cardiovascular features.
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PMID:Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome. 291 33

Pectus excavatum is a common malformation in diseases of elastic tissue (Marfan, Ehlers-Danlos...). When observed apparently alone it may represent a minor form of dystrophy, implying the same risk of a cardiac lesion. Abnormalities of the thoracic skeleton and echocardiographic mitral valve prolapse is a well established association, suggesting a common disorder of connective tissue. However, there is no absolute proof that this is a statistically significant association. Histological connective tissue changes relating these two markers have yet to be found. Clinical and echocardiographic examinations and skin biopsies were performed in 17 patients with pectus excavatum. Mitral valve prolapse was detected in 65% of cases (associated in 1 out of 3 cases with tricuspid valve prolapse). In 53% of cases electron microscopy showed abnormal skin collagen and elastin. Collagen abnormalities were twice as common as those of elastin and could be associated. Mixed changes of thinning of elastin and collagen fibres of irregular calibre were particularly suggestive. Pectus excavatum would therefore seem to be the expression of a minor form of dystrophy of collagen and elastin tissues and a clinical marker of possible mitral valve prolapse.
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PMID:[Mitral valve prolapse and pectus excavatum. Expressions of connective tissue dystrophy?]. 309 Sep 60

A 32-year-old man with distal skeletal manifestations of Marfan's syndrome had experienced shortness of breath and orthopnea for one month. Physical examination showed the presence of severe aortic regurgitation. Both noninvasive and invasive studies revealed that the aortic regurgitation was induced by previously undescribed peculiar and unusual etiology: diastolic prolapse of a circumferentially dissected tubular intimal flap into the left ventricle. The patient underwent surgical repair with striking clinical improvement.
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PMID:Aortic regurgitation secondary to diastolic prolapse of a tubular intimal flap into the left ventricle in a patient with anuloaortic ectasia. 322 56

The clinical, hemodynamic and pathological findings of 13 patients with aortic regurgitation due to aortic valve prolapse caused by advanced myxomatous degeneration were evaluated. Eleven patients showed a favorable outcome with no complications resulting from surgery. One patient died from aortic dissection, and another died suddenly from an unknown cause. Five patients had mitral valve prolapse as a complication. Ten patients (77%) had a long-standing history of hypertension. Twelve patients (92%) were male. None of the patients had the stigmata of Marfan's syndrome. All patients had marked myxomatous degeneration of the aortic valves without any inflammatory changes. Two patients showed microcalcification; 7 demonstrated moderate fibrosis. Five patients showed severe fragility of the cusps which appeared redundant, gelatinous and softened by degenerative changes. Myxomatous degeneration of the aortic valve is not rare, and, in fact, it may be one of the most common pathologic and clinical entities associated with pure aortic insufficiency.
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PMID:Results of surgery for aortic regurgitation due to aortic valve prolapse. 323 39

Inherited abnormalities of connective tissue elements often cause changes in the structure and function of the cardiovascular system. Well-known heritable disorders of connective tissue in which cardiovascular abnormalities are prominent include the Marfan syndrome and the Ehlers-Danlos syndrome. Connective tissue abnormalities also occur without the associated features of a recognized syndrome. These include isolated valvular prolapse and anuloaortic ectasia. In this review, the cardiovascular features of connective tissue abnormalities--both the recognized syndromes and the isolated abnormalities--are described, important concepts in the diagnosis and treatment of these disorders are reviewed, and the classification of inherited connective tissue abnormalities of the cardiovascular system is discussed.
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PMID:Cardiovascular disease of connective tissue origin. 354 48

The purpose of this study of 6 cases of Marfan's or Marfan-like syndrome detected in 7077 echocardiographic examinations was to investigate the clinical value of echocardiography. The mean age of the patients was 40 years, and 4 of them (66 p. 100) were female. The diagnosis was based on the 4 criteria of Marfan's syndrome in 1 case, on 3 criteria in 2 cases and on 2 criteria in 3 cases. Four patients were known to have a previous cardiac murmur. Auscultation revealed a systolic murmur of mitral regurgitation in 3 cases (associated with a diastolic murmur of aortic regurgitation in 2 of them), a diastolic murmur of aortic regurgitation in 3 cases and a systolic murmur due to calcified bicuspid aortic valve in 1 case. ECG recorded a normal rhythm in 4 cases, atrial fibrillation in 2 cases of mitral regurgitation, and left ventricular hypertrophy in 3 cases. Chest X-ray showed cardiomegaly in 3 patients and severe kyphoscoliosis in one. Echocardiography visualized dilatation of the ascending aorta, severe (60 mm) in 1 case, in 3 patients; dilatation of the pulmonary artery in 1 patient; pansystolic mitral valve prolapse in 3 patients (associated with aortic and tricuspid valve prolapse in 2 of them after the disease had progressed); isolated aortic valve prolapse due to bicuspid valve in 2 patients; intracardiac calcifications in 3 patients; subaortic septal hypertrophy in 1 patient and calcified incompetent foramen ovale in 1 patient. Aortography performed in 3 patients disclosed an aneurysm of Valsalva's sinuses in 1 case and a mild aortic insufficiency in 2 cases. Two patients underwent cardiac catheterization for severe mitral regurgitation due to mitral valve prolapse requiring valve replacement, which was successfully done. Thus, echocardiography may provide an early diagnosis of Marfan's syndrome, since cardiovascular abnormalities are frequent in infancy. It also ensures a close follow-up of the disorders and it is useful in deciding whether treatment should be medical or surgical. It may detect formes frustes in a family with Marfan's syndrome, and it may define a borderline group of patients: those with Marfan-like syndrome. In these patients the cardiovascular lesions are more preponderant and appear later than in the classical Marfan's syndrome; they are often difficult to differentiate from the lesions of Barlow's syndrome.
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PMID:[Marfan's or Marfan-like syndrome: value of echocardiography]. 356 65


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