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Query: UMLS:C0033377 (prolapse)
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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.
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PMID:Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. 1009 May 57

Systematic, prospective data regarding phenotypic features, including echocardiographic findings, in pediatric patients with the Marfan syndrome are lacking. In addition, limited and conflicting information exists regarding the impact of pharmacologic therapy on aortic growth rate in children. Fifty-three children and adolescents with the Marfan syndrome underwent physical examination, anthropometric evaluation, and echocardiography. The relation of pharmacologic therapy to aortic growth rate was examined in the 44 subjects in whom serial echocardiograms were recorded. Although boys and girls did not differ in ocular, skeletal, or cardiovascular manifestations, aortic dilatation tended to be more common in boys (86% vs 72%). Children with aortic dilatation at baseline (42 of 53 or 79%) were more likely to also have scoliosis and mitral prolapse (both p <0.005). The medicated patients had slower aortic growth than the unmedicated patients with regard to both absolute aortic growth rate (p <0.01) and aortic growth rate adjusted for age and body size (p <0.005). Nevertheless, major cardiovascular complications developed in 5 patients despite long-term pharmacologic therapy. In conclusion, beta-blocker and calcium antagonist therapy retards aortic growth rate in children and adolescents with the Marfan syndrome.
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PMID:Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. 1023 96

We report on a 46-year-old man with a 4-year history of predominantly nocturnal pain at the thoracic and lumbar spine as well as accompanying morning stiffness and episodes of alternating buttock pain. At physical examination the patient presented with the typical traits for Marfan's syndrome (MFS), along with limitation of both chest expansion and movement in all planes of the lumbar spine. Pelvic and lumbar spine radiographs showed findings consistent with ankylosing spondylitis (AS). Laboratory tests were consistent with an inflammatory state and HLA typing was positive for the B27 antigen. Transthoracic echocardiography showed prolapse of the posterior mitral leaflet and mild aortic insufficiency. We diagnosed co-existent MFS and AS. The association of these two pathologies is particularly interesting, owing to the co-existence of hypermobility of peripheral joints due to MFS ligamentous hyperlaxity, and the reduction of both axial skeleton motility and chest expansion related to AS. As both of these diseases may damage the cardiovascular system over time, follow-up with echocardiography monitoring is indispensable.
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PMID:Coexistent Marfan's syndrome and ankylosing spondylitis: a case report. 1134 28

We report a series of 9 children with neonatal Marfan syndrome. The diagnosis was made on a striking facial dysmorphia associated with arachnodactyly type skeletal anomalies. They all had cardiovascular anomalies: aortic dilatation 9 times, and mitral and/or tricuspid valve prolapse 8 times. Three children underwent ascending aorta replacement with the Yacoub technique. There was one operative death in a young infant and the two survivors required further surgery for gross mitral insufficiency and an aneurysm of the horizontal aorta. Three children died before the age of 1 year from cardiac insufficiency linked to massive leaks of all the valves. The three youngest children in the series did not undergo any procedure and were followed up for a slowly growing dilatation of the initial aorta. The prognosis of neonatal Marfan syndrome is weighted with a heavy mortality. The timing of surgical intervention in case of excessive dilatation of the aortic root is difficult to determine. It depends not only on the aortic diameter but also on the aortic valve function and the existence of other mitral or tricuspid lesions. Surgical treatment for lesions of the initial aorta and the atrioventricular valves improves the short-term prognosis but the risk of re-intervention is higher.
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PMID:[Marfan syndrome in the newborn and infants less than 4 months: a series of 9 patients]. 1208 46

Fifty (male = 24; female = 26; age 49.33 +/- 12.16) presumably healthy adult Nigerians were prospectively examined for the presence of mitral valve prolapse (MVP). We performed clinical, electrocardiographic (ECG), M-mode echocardiographic (M-mode echo) and two-dimensional echocardiographic (2-D echo) examinations on these subjects. 2-D echos were obtained from parasternal and apical acoustic windows. Parasternal long axis view obtained when the transducer was perpendicular to the chest wall with both mitral valve leaflets and left atrium recorded was considered optimal for studying mitral valve systolic motion. MVP was defined as late or holosystolic bowing of mitral valve leaflet at least 2 mm or 3 mm, respectively, below the C-D line at M-mode echo; or, marked systolic extension of one or both mitral valve leaflets cephalad to the plane of mitral annulus into the left atrium. No subject had classical features of Marfan's Syndrome. Of the four subjects with cardiac symptoms, only one had diagnostic MVP. Three subjects had mid-to late systolic click following valsalva manouver. Seven subjects had apical late systolic murmur none of which was louder than grade II/VI. Four of them had combined anterior and posterior leaflet prolapse and one had posterior leaflet prolapse compatible with diagnostic MVP, thus resulting in 10% prevalence rate of MVP in the study population. Two other subjects with late systolic murmur had no echocardiographic evidence of MVP. Three subjects with non-diagnostic mild-to moderate prolapse of the anterior leaflet alone on 2-D echo had no clinical murmur even though two of them complained of palpitations. Seven otherwise normal subjects had holosystolic bowing of mitral valve leaflets on M-mode echo but not on 2-D echo and were thus classified into non-diagnostic MVP group. No subject with MVP had serious arrhythmias on resting ECG. These results indicate that the prevalence of MVP in presumably healthy adult Nigerians was 10%. The use of M-mode echo resulted in over-diagnosis, whereas 2-D echo was more accurate in identifying true anatomical and structural abnormalities of the mitral valve.
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PMID:Prevalence of mitral valve prolapse in healthy adult Nigerians as diagnosed by echocardiography. 1451 Jan 42

A 32-year-old man with Marfan syndrome was admitted to our hospital for detail examination of congestive heart failure. Doppler echocardiography showed severe mitral regurgitation due to prolapse of posterior mitral leaflet. Annuloaortic ectasia without aortic regurgitation was also detected by aortography. Considering the future operative need for aortic root and ascending aorta, we performed mitral valve replacement with a mechanical valve and preventive concomitant aortic root replacement with a composite valve graft. His postoperative course was uneventful. Optimal surgical treatment of mitral regurgitation and annuloaortic ectasia in Marfan syndrome is controversial because the underlying connective tissue defect theoretically might compromise repair durability. Several surgical options for mitral regurgitation and annuloaortic ectasia in Marfan syndrome are discussed.
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PMID:[One-staged operation for mitral regurgitation and annuloaortic ectasia without aortic regurgitation with Marfan syndrome; report of a case]. 1515 Oct 37

The external phenotypic features of the structure of connective tissue (CT) were determined in 120 patients (110 males and 10 females aged 18 to 30 years) with echocardiographic criteria for mitral prolapse and/or chordal malposition. Undifferentiated CT dysplasia (CTD) was established in 110 cases. Ten patients had differentiated CTD (Marfan's syndrome and the Ehlers-Danlos syndrome). A modified schedule including 63 indices was used to study the external phenotype. The external signs of dysplasia were detected in all the cases of echocardiographically verified CTD with a predominance of the manifestations of craniofacial dysmorphism. The maximum number of external CTD was ascertained in patients with differentiated CTD and in those with undifferentiated CTD who had an asthenic constitution and abnormal body weight deficiency. The number of external markers, which exceeds the threshold level (5), or the presence of 3-4 morphodysplasias at various sites is considered to be diagnostically significant in detecting minor cardiac anomalies. The paper presents an algorithm for diagnosing cardiac microanomalies, which is based on the determination of the external signs of CTD.
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PMID:[Assessment of a complex of external phenotypic signs for the detection of minor cardiac anomalies]. 1544 70

The primary joint hypermobility syndrome (pJH) is an overlap disorder of connective-tissue dysplasias, which incorporates features seen in the Marfan syndromes (MFS), Ehlers-Danlos syndromes (EDS), and osteogenesis imperfecta. Patients with pJH usually present arthralgia, back pain, soft-tissue lesions, recurrent joint dislocation, or subluxation. Extraarticular features may include, e. g., striae cutis, keratoconus, easy bruising, mitral valve prolapse, aortic incompetence, aneurysms, pneumothorax, hernia, urinary incontinence, and pelvic floor prolapse. Due to the high frequency of critical dissection and rupture, the early recognition of rare life-threatening complications such as dilatation of the aortic root and aneurysms is important. Therefore, patients (and their family members) with pJH should also be examined for life-threatening features seen in MFS and EDS.
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PMID:[Concomitant diseases in primary joint hypermobility syndrome]. 1549 74

Marfan syndrome (MFS) is an inherited connective tissue disorder, transmitted as an autosomal dominant trait. Its phenotypic and clinical expression is variable and involves several body systems. The ocular, skeletal and cardiovascular systems are characteristically affected. Involvement of the cardiovascular system is the main cause of morbidity and mortality. The authors report the case of a thirteen-year-old girl, with MFS diagnosed at age five, referred to the pediatric cardiology department because of mitral regurgitation. In addition to severe mitral regurgitation due to prolapse of both mitral valve leaflets, diagnostic exams showed massive mitral annulus calcification and ostium secundum atrial septal defect (ASD). The patient underwent successful mitral valve repair and ASD closure surgery. In this report we highlight some features of MFS, stressing the cardiovascular aspects.
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PMID:Massive calcification of the mitral valve annulus in an adolescent with Marfan syndrome. A case report. 1719 Feb 41

Mitral valve prolapse (MVP) is a defect in the mitral valve where a redundancy of valve tissue is associated with a variety of clinical expressions, ranging from an isolated mild bulging of the mitral valve to a severe prolapse of the mitral valve with extensive mitral regurgitation. As the natural history and complications of MVP are not always benign, it seems essential to strive for the proper management of these patients. The identification of functionally related genes could provide helpful clues and increase the present understanding of the pathogenesis of MVP, with the ultimate goal of developing targeted therapies. The genetics of MVP can be divided into two parts: (i) Genetics in floppy mitral valve/MVP; and (ii) genetics in heritable connective tissue disorders (Marfan syndrome, polycystic kidney, etc.) associated with floppy mitral valve. Herein, the known genetic aspects of MVP are described, according to the above-mentioned scheme.
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PMID:Floppy mitral valve/mitral valve prolapse and genetics. 1809 5


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