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

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.
Arch Mal Coeur Vaiss 2002 May
PMID:[Marfan syndrome in the newborn and infants less than 4 months: a series of 9 patients]. 1208 46

Exercise-induced laryngomalacia is a rare differential diagnosis of exercise-induced asthma. We report the case of a previously fit 14-year-old female patient who presented with dyspnoea on intense exertion and whose condition had not improved with treatment prescribed for a misdiagnosed exercise-induced asthma. A diagnosis of exercise-induced laryngomalacia was eventually made when a variable extra-thoracic airway obstruction on the flow-volume loops was obtained after an incremental exercise test. Flexible fiberoptic rhinolaryngoscopy confirmed this abnormality and demonstrated an anterior prolapse of the arytenoid region, partially obstructing the airway. The patient therefore underwent laser aryepiglottoplasty which produced a satisfactory anatomical outcome in the larynx but which only resulted in a partial functional improvement. Laryngomalacia is rare and its pathophysiology is not well understood. However, it should be considered in patients presenting with exertional dyspnoea, particularly if there is inspiratory embarrassment, who fail to improve with beta-2-adrenergic agonists. The diagnosis can be made from the flow-volume loop and direct laryngoscopy, before and after exercise.
Rev Mal Respir 2002 Oct
PMID:[Exercise-induced laryngomalacia]. 1247 52

For AS, besides a very thorough update by Carabello on their management, new experimental work confirms that the pathophysiology of the condition is closer to atherosclerotic and inflammatory processes than pure degeneration. Moreover this year brings a batch of long term post-operative results, one of which is an important series relating to 2194 bioprostheses followed up for 15 years. The choice of valvular substitute between 60 and 70 years old is the subject for several studies. A series of 259 re-operations for bioprosthesis deterioration allows quantification of the operative risk to which those with this substitute are subjected in case of degeneration. Finally, the strategy to adopt in a patient with an indication for aortocoronary bypass but also with a not-tight AS is discussed (abstention, decalcification, or "preventive" valvular replacement?). For aortic insufficiency (AI) some new results for the Ross operation have been published and the first publications reporting on the attempts of experimental positioning of bioprostheses via the percutaneous route in animals are appearing. As for mitral valvulopathies, MI has carved a privileged place. Much work this year relates amongst other things to functional MI in dilated cardiomyopathies with dilatation of the ring, to the natural history of mitral valvular prolapse detailed in an important series of 833 patients, and to the evolutive risk of atrial fibrillation (AF) with MI and its treatment during plasty or mitral valvular replacement procedures. Anticoagulant treatment for mechanical prostheses is the subject of much work drawn from a large German prospective study (GELIA) confirming the general tendency for alleviation of intensity in aortic especially but also mitral valvulopathies, stressing the advantages of autocontrol. Finally, the Valvulopathy Working Group of the European Society of Cardiology publishes its recommendations for asymptomatic valvulopathies, recalling the echographic criteria of dilatation and left ventricular function to be retained for operative indications, emphasising furthermore the significance of the stress test in the follow up of asymptomatic AS.
Arch Mal Coeur Vaiss 2003 Jan
PMID:[The best of valvular heart disease in 2002]. 1261 68

Exercise-induced laryngomalacia (EIL) is characterized by inspiratory stridor that is brought on by exercise (i.e. competitive sports) and fails to respond to treatment with bronchodilators (Smith et al., Ann Otol Rhinol Laryngol 1995;104:537-541). During exercise, (1) spirometric flow volume loops show evidence of variable extrathoracic obstruction, and (2) laryngoscopy shows inspiratory prolapse of supraglottic structures with partial glottic obstruction. Only five cases of probable EIL have been reported in the literature (Smith et al., Ann Otol Rhinol Laryngol 1995;104:537-541; Lakin et al., Chest 1984;86:499-501; Bittleman et al., Chest 1994;106:615-616; Bent et al., Ann Otol Rhinol Laryngol 1996;105:169-175; Chemery et al., Rev Mal Respir 2002;19:641-643). Here, a case of laryngomalacia induced by exercise in a previously asymptomatic 10-year-old athlete with a remote history of laryngomalacia in infancy is presented, and a review of previously reported cases is provided.
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PMID:Laryngomalacia induced by exercise in a pediatric patient. 1290 57

Valvular dystrophies due to myxoid degeneration are common and potentially serious cardiac pathologies. They constitute a heterogeneous group of which the most usual is idiopathic mitral valvular prolapse (Barlow's disease). The majority of mitral valvular prolapses are sporadic, but there are several familial forms. Transmission is usually autosomal dominant with incomplete penetrance and variable expression. The first chromosomal location to be identified was on the 16p11-13 chromosome. Since then, two other loci have been identified on the 11p15.4 and 13q31-32 chromosomes. Our team has recently identified the first gene responsible for myxoid valvulopathy linked to the X chromosome, from a large family of 318 members. This is the gene that codes for filamin A, which is a cytoskeleton protein. The frequency of mutations in this gene is still unknown, but out of 7 families in which transmission was compatible with X-linked transmission, mutations were discovered in 4 of the families. Thanks to a genetic epidemiological approach, we have also demonstrated that there are familial forms of aortic stenosis, which are probably common. Identification of the genes implicated in these common forms of valvular pathology is important, as it will allow a better understanding of the pathophysiology of these valvular disorders and could lead to better therapeutic management in the future.
Arch Mal Coeur Vaiss 2007 Dec
PMID:[Genetic aspects of valvulopathies]. 1822 15


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