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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Idiopathic prolapse of the mitral valve is a common disorder, but many cases are clinically subtle. Thoracic skeletal abnormalities, reported recently to accompany the syndrome, may serve as an easily identifiable clinical indicator. The prevalence of these abnormalities was defined in 24 patients with proved prolapse of the mitral valve. The valvular syndrome was defined clinically, by echocardiography and, in seven cases, by left ventricular angiography. The skeletal deformities were defined clinically and radiographically. Pectus excavatum was present in 62 percent of the patients, "straight back" in 17 percent and severe scoliosis in 8 percent. Eighteen of the 24 patients (75 percent) had a definite thoracic skeletal deformity. The association of idiopathic prolapse of the mitral valve with these skeletal deformities may represent a forme fruste of Marfan's syndrome. Patients with "straight back" and pectus excavatum should be examined clinically and perhaps by echocardiography to exclude idiopathic prolapse of the mitral valve; when murmurs are present, a diagnosis of "pseudoheart disease" should not be made before mitral valve prolapse has been excluded.
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PMID:Thoracic skeletal abnormalities in idiopathic mitral valve prolapse. 114 95

The case of a 2-day-old male full-term newborn with myotubular (centronuclear) myopathy is reported. He presented with generalized hypotonia and muscle weakness, swallowing disturbance, and respiratory distress at birth. He had a typical myopathic face, high-arched palate, funnel chest, and mild bilateral ptosis. Deep tendon reflexes were absent. Serum creatine kinase was normal. The histologic examination of the muscle biopsy over the right rectus femoris muscle revealed an increased number of fibers with centrally placed nuclei, type 1 fiber predominance, type 1 fiber atrophy, and a peripheral halo in the sarcoplasm on NADH-TR staining. On electron microscopy, central nuclei were separated by strands of glycogen and mitochondria. His muscle strength showed clinical improvement at a 14-month follow-up. This case illustrates the need for a muscle biopsy and histochemical staining and/or electron microscopic investigation for a proper diagnosis in hypotonic newborns with respiratory distress.
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PMID:Neonatal myotubular myopathy with respiratory distress: report of a case. 168 84

Clinical, radiologic, electrocardiographic and 2-dimensional echocardiographic findings of fifty cases of mitral valve prolapse syndrome attending the Pediatric Cardiology clinic of I.C.H. and Childrens Hospital, Medical College, Kottayam over a period of ten years from 1980-1989 are presented. Mitral valve prolapse syndrome (MVPS) accounted for 2% of cardiac problems attending our pediatric cardiology clinic. Isolated MVPS constituted 64% of the cases. The common causes of secondary MVPS were Marfan Syndrome-18%, Atrial Septal Defect-10% and Rheumatic fever-8%. Associations of MVPS included Pectus excavatum (8%), Isolated arachnodactyly (2%) and Straight back syndrome (2%). 2-D echocardiogram demonstrated prolapse of both leaflets of Mitral valve in 44%, Isolated posterior mitral valve leaflet prolapse in 32% and Isolated anterior mitral valve leaflet prolapse in 24% of cases. No complications were seen during follow up.
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PMID:A clinical profile of mitral valve prolapse syndrome. 213 7

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.
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PMID:Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy). 224 Apr 64

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

To elucidate the clinical features of mitral valve prolapse in apparently healthy young population, two-dimensional echocardiography was performed in the students (18-22 years) without documented organic heart diseases. Focusing on the systolic dislocation and configuration of the anterior mitral leaflet, a following two-dimensional echocardiographic criterion for grading prolapse was used: Grade I: subjects only with slight slip of the tip of the anterior mitral leaflet (AML) toward the left atrium, Grade II: those with considerable slip of the AML but keeping a normal convex shape in the leaflet body toward the left atrium, and Grade III: those with severe slip of the AML with its ballooning toward the left atrium. Among 2016 students examined, 1507 subjects (74.8%) were judged to be normal, 343 (17.0%) to be Grade I, 141 (7.0%) to be Grade II, and 25 (1.2%) to be Grade III. Of the 25 subjects in Grade III, 20 subjects underwent further examination including a questionnaire about the subjective complaints, physical examination, electrocardiograms at rest and during exercise, Doppler echocardiography and postural tests. Concerning the subjective symptoms, eight subjects had some complaints including chest pain, shortness of breath, dizziness, palpitation, fatigability and synocope, and four of the eight had more than three complaints. Mid-systolic click and a late systolic murmur were audible in four and funnel chest was observed in one. No specific findings were found by electrocardiograms. Mild mitral and tricuspid regurgitations were observed by Doppler echocardiography in four and nine subjects, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mitral valve prolapse: two-dimensional echocardiographic screening in apparently healthy students]. 326 87

Cardiac involvement of mucopolysaccharidosis has not been well characterized by echocardiography. In this paper, we reported a case of Hunter syndrome with special reference to the noninvasive diagnosis of cardiac anomalies. A 21-year-old male of Hunter syndrome was referred to our noninvasive laboratory for the evaluation of his heart murmurs. He was strikingly dwarfed, 115 cm in height and 28 kg in weight, and had apparently Gargoyle-like facial appearance. Physical examination disclosed a mild funnel chest and a loud systolic murmur. Blood pressure was 98/56 mmHg and regular pulse rate was 100/min. The chest X-ray film revealed a shift of the heart to the left with a prominent pulmonary artery segment. There were no signs of pulmonary congestion. The electrocardiogram demonstrated right axis deviation, clockwise rotation and left atrial overload. In phonocardiograms, a basal ejection and an apical scratchy systolic murmurs were recorded. The latter was associated with a presystolic murmur and a loud first heart sound. A loud pulmonary second heart sound was also present. Outstanding findings were observed in the two-dimensional and M-mode echocardiograms, which showed remarkable thickening of both mitral valve leaflets with reduced opening. There was also generalized thickening of tricuspid and aortic valves, and endocardium of the free ventricular wall. Two leaflets of the tricuspid valve were visualized to prolapse, but the aortic valve motion appeared intact. In addition, echocardiograms revealed the dilatation of right-sided cardiac chambers and pulmonary artery, but the size of the left ventricle was rather small. Pulsed Doppler echocardiography demonstrated systolic turbulence in the right atrium in the vicinity of the tricuspid valve orifice. Stenotic turbulence was also recorded in the inflow tract of the left ventricle during diastole. Thus, the final diagnosis of predominant mitral stenosis associated with tricuspid valve prolapse and pulmonary hypertension was obtained. In conclusion, cardiac involvements in Hunter syndrome were precisely evaluated by noninvasive methods. Hunter syndrome may be considered as one of the etiologies producing mitral stenosis.
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PMID:[Echocardiographic manifestations of the heart in the Hunter syndrome: report of a case]. 682 Nov 4

A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.
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PMID:Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25). 725 2

We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.
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PMID:X-linked recessive myotubular myopathy proven by muscle biopsy. 906 5

Noonan's syndrome is characterized by craniofacial anomalies, i. e. ptosis, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations. Noonan syndrome presents with aspects similar to Ullrich-Turner syndrome, but can be found in both male and female patients. In about one half of the patients with Noonan's syndrome cardiovascular anomalies occur, mostly anomalies of the right heart (mainly valvular pulmonary stenosis). Aortic stenosis and coarctation of the aorta are rarely seen. We report on a patient with four sequential potentially stenosing and stenosed parts of the proximal systemic circulation: hypertrophic cardiomyopathy, bicuspid aortic valve, coarctation of the aorta and a hypoplastic aortic arch as a part of Noonan's syndrome. This patient presents with a unique combination of anomalies, as he also shows a Madelung like deformity of the wrist.
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PMID:[Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch]. 1508 76


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