Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with a complete deletion of the iduronate-2-sulphatase (IDS) gene are described. In both patients, the resulting phenotype was that of very severe Hunter syndrome (mucopolysaccharidosis II). In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other. It is speculated that loss of adjacent loci may contribute to the unusual findings and that the severe features present in both patients may represent contiguous gene syndromes. Further analysis of IDS cDNA from other patients with Hunter's syndrome may eventually enable phenotype to be predicted more accurately.
 ...
PMID:The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). 190 48

Serial non-invasive studies including echocardiography were performed for the evaluation and follow-up of the cardiac lesions in six cases with genetic mucopolysaccharidoses. These cases were classified by the enzyme assay into one case of Scheie syndrome, three of Hunter syndrome, one of Sanfilippo syndrome and one of Maroteaux-Lamy syndrome. The echocardiographic examination revealed the most striking change in the mitral valve, which was progressive with increase of the age in most cases. The mitral valve echo was dense and multilayered with a decreased diastolic descent rate (DDR) in the M-mode echocardiogram, and its thick leaflets showed diminished opening on the two-dimensional echocardiogram. The aortic valve echo was also dense in three cases inducing one case with the prolapse of the non-coronary cusp into the left ventricular (LV) cavity. The pulmonary and tricuspid valves showed an unremarkable change, although the echocardiographic signs of pulmonary hypertension was observed in two cases. Diffuse hypertrophy of the interventricular septum and LV posterior wall was observed in five cases and apical hypertrophy was found in a case of Hunter syndrome (Case 2). Parameters of the LV contractility showed almost normal values but the distensibility of the LV posterior wall was impaired in two cases, suggesting stiffness of the cardiac muscle. Although no ischemic change was observed on the electrocardiogram, the echo density of coronary artery wall was not uniform on the two-dimensional echocardiogram and dilated coronary artery was found in two cases. Phonocardiograms disclosed an aortic regurgitant murmur in one case and an apical mitral regurgitant murmur in two cases. In one case of Scheie syndrome, a pansystolic murmur (Levine 3/6) and a mid-diastolic rumble (Levine 2/6) were present at the age of 15 and 16, but after the transient increase in the loudness these disappeared at the age of 18 and only an ejection systolic murmur is audible at the present time, while the mitral valve showed a progressive limitation of the movement on the two-dimensional echocardiogram. Contrary to the reduced DDR and diminished opening of the mitral valve in 3 cases, neither diastolic rumble nor opening snap was recognized in the phonocardiogram. The echocardiographic findings seemed to reflect the patho-anatomical manifestation of this disease, and thus, the periodical echocardiographic evaluation is rewarding to assess the cardiac lesions and their progression in mucopolysaccharidoses.
 ...
PMID:[Cardiac manifestation of the mucopolysaccharidoses: periodical echocardiographic evaluation in six cases]. 642 63

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.
 ...
PMID:[Echocardiographic manifestations of the heart in the Hunter syndrome: report of a case]. 682 Nov 4

Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of seizures. We have used genomic DNA sequencing to identify several new genes in the IDS region. DNA deletion patients with atypical symptoms have been analysed to determine whether these atypical symptoms could be due to involvement of these other loci. The occurrence of seizures in two individuals correlated with a deletion extending proximal of IDS, up to and including part of the FMR2 locus. Other (non-seizure) symptoms were associated with distal deletions. In addition, a group of patients with no variant symptoms, and a characteristic rearrangement involving a recombination between the IDS gene and an adjacent IDS pseudogene (IDS psi), showed normal expression of loci distal to IDS. Together, these results identify FMR2 as a candidate gene for seizures, when mutated along with IDS.
 ...
PMID:Molecular and phenotypic variation in patients with severe Hunter syndrome. 914 53

We report on the imaging findings of Tolosa-Hunt syndrome in a 59-year-old patient. Clinical findings included periorbital pain, ptosis, disordered eye movements, and blurred vision. Treatment with intravenous administration of steroid resolved all symptoms. Currently, magnetic resonance imaging plays a key role in the diagnosis of Tolosa-Hunter syndrome for locating the inflammatory tissue and follow-up. This case of Tolosa-Hunter syndrome with representative (FDG PET/CT) images may imply that FDG PET/CT is a useful tool in detecting and monitoring of this disease.
 ...
PMID:A rare case of Tolosa-Hunt syndrome imaged with FDG PET/CT and MRI. 2163 63