Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. We confirm here the localisation of the mutant gene on Xq (Xq 2.8) by linkage analysis in a 5-generation pedigree (maximum lod score of Z = 4.57 at theta = 0.04 with probe St14 at locus DXS52) and emphasise the phenotypic variability of the disease. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with a long survival with little or no macrocephaly. Since other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have previously been shown to map to the Xq 2.8 region as well (e.g. MASA syndrome and spastic paraplegia), the present results raise the question of whether H-SAS syndrome, MASA syndrome and spastic paraplegia with mental retardation might represent different phenotypic expression of various mutations at the same locus.
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PMID:X-linked hydrocephalus: clinical heterogeneity at a single gene locus. 139 13

Hydrocephalic rats were found in a breeding colony of Csk: Wistar-Imamichi strain rats. In males, the hydrocephalus were serious and could be detected from 7 days after birth. Survival was 3-4 weeks. In females, the hydrocephalus was moderate, there was no abnormal external appearance, and the rats were able to mature. Ventricular dilatation was excessive in males but moderate in females. The total frequency of hydrocephalus was 34.3% in both males and females. Breeding data indicated that this disease is heritable and is single dominant and X-linked (symbol, Hyd). The female moderate hydrocephalics could be detected by progeny tests without examining brain sections. No evidence of developmental anomaly was observed in the ventricles. This hydrocephalus was classified as being of the communicating type, and this strain was named the Hyd strain as an animal model for human hydrocephalus.
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PMID:Inherited hydrocephalus in Csk: Wistar-Imamichi rats; Hyd strain: a new disease model for hydrocephalus. 295 17

We reported a male patient with X-linked myotubular myopathy in whom MTM 1 gene mutation was first identified in Japan. The patient had 9-nucleotide insertion between exons 11 and 12 due to aberrant splicing. The patient showed severe hypotonia and generalized muscle weakness at birth. Mechanical ventilation and tube feeding were necessary because of poor spontaneous respiration and sucking. On muscle biopsy, most of the muscle fibers were small and round, and had peripheral halos, showing immaturity. He had a moderate ventricular dilatation and mild brain atrophy on brain CT and MRI. However, whether these findings are causally related to the splice-site mutation remained obscure.
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PMID:[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene]. 984 18

Dilated cardiomyopathy (DCM) is the most frequent form of primary myocardial diseases and the third most common cause of heart failure. Clinically, DCM is characterized by a progressive course of ventricular dilatation and systolic dysfunction. The life expectancy is limited and varies according to the underlying etiology with a median survival time of about 5 years after diagnosis. Myocarditis, immunologic abnormalities, toxic myocardial damage, and genetic factors are all assumed to be causes. Familial occurrence of DCM, mostly as an autosomal dominant trait, is more common than generally believed and is responsible for 20-30% of all cases of DCM. Candidate gene screening and linkage analyses in large families were successful in identifying 24 disease genes. There is a wide variability in the onset, course and severity of the disease even within the same family. In addition, genotype-phenotype correlations included only small numbers of affected. This implies that in most cases no conclusion can be drawn from the clinical manifestation of DCM to the responsible disease gene. Mutations in the beta-myosin heavy chain and in cardiac troponin T are common causes of pure familial DCM. DCM associated with conduction disease is mainly due to mutations in lamin A/C and X-linked DCM is often caused by mutations in dystrophin. All other disease genes are rare causes of familial DCM. Genetic screening in all known disease genes is not possible, but more efficient screening methods are awaited in the near future. Until then, clinical examination of family members and, in case of familial DCM, genetic counseling are recommended in the work-up of patients with idiopathic DCM.
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PMID:[Familial dilated cardiomyopathy]. 1617 Jun 84

We report the cardiac features of seven patients with X-linked McLeod neuroacanthocytosis syndrome, a multi-system disorder resembling Huntington's disease and cardiac manifestations in about half of the patients reported to date. One patient presented with a cardiomyopathy (normal size of the left ventricle with concentric remodeling and mildly impaired ejection fraction, 43%). This patient died from sudden cardiac death in the absence of any cardiovascular risk factors. Autopsy demonstrated eccentric hypertrophy and mild left ventricular dilatation. Histopathology was not specific and revealed focal myocyte hypertrophy, slight variation of myofiber size and patchy interstitial fibrosis.
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PMID:Cardiac abnormalities in McLeod syndrome. 1865 29

In the pathogenesis of dilated cardiomyopathy (DCM) in Emery-Dreifuss muscular dystrophy (EDMD) matrix metalloproteinases (MMPs) are supposed to be involved and may have diagnostic/prognostic value. Serum levels of MT1-MMP, MMP-2 and MMP-9 were quantified by ELISA and zymography in 22 EDMD patients and 15 age-matched controls. In the autosomal-dominant EDMD MMP-2 and MT1-MMP were increased in all cases, and MMP-9 was increased in two of the eight examined patients. In the X-linked EDMD MMP-2 expression was increased in all the cases, MMP-9 level was elevated in 3 of the 14 cases, and MT1-MMP was decreased in eight of these patients. There was no evident correlation between the MMPs level and the different cardiac parameters including left-ventricular end-diastolic diameter, left atrial diameter and left ventricular ejection fraction in either form of EDMD. The presented results indicate that a changed level of matrix metalloproteinases, especially that of MMP-2 in serum, may be of value for detection of cardiac involvement in EDMD patients, especially in those patients with no evident subjective cardiac symptoms. Further follow-up studies of MMPs are needed to check if their determination is of value for monitoring of the progression of atrial/ventricular dilatation. MMPs determinations may also be useful for monitoring DCM treatment by synthetic MMPs inhibitors.
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PMID:Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 1999 54

We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus.
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PMID:Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia. 2341 24

Duchenne muscular dystrophy (DMD) is an X-linked disease, but female carriers infrequently have some symptoms, who are called manifesting carriers. Here we report a case of a manifesting carrier of DMD with skeletal muscle weakness and cardiac abnormalities such as deterioration of cardiac function and left ventricular dilatation, who successfully underwent cardiac surgery. A 79-year-old female with acute heart failure for severe mitral regurgitation was admitted to our hospital. Surgical replacement of the mitral valve was performed under general anesthesia with intravenous anesthetics and non-depolarizing muscle relaxant. Cardiac surgery on a manifesting carrier of DMD is rare and requires a careful preoperative assessment of the heart function and anesthetic management.
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PMID:[Mitral valve replacement for a manifesting carrier of duchenne muscular dystrophy]. 2574 50