Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female patient, who died at the age of 61 and had suffered from several manic-depressive psychoses for more than 30 years, developed three phases of intoxication under lithium therapy. There was a 15-year history of electro- and Pentetrazol-induced convulsive therapy prior to lithium medication; neuroleptics were still administered during lithium therapy. The last lithium intoxication, 3 years prior to death was during a low-dosage therapy with normal lithium levels followed by severe lasting impairment: akinesia, rigidity, dysarthria, ataxia, and an organic alteration in character. For the first time, neuropathological findings could be established in such a case: extensive damage to granule and Purkinje cells in the cerebellum; gliosis in the dentate nucleus, the inferior olives, and the nucleus ruber; cytoplasmic inclusions in various nerve cells of the cranial nerve nuclei; cytoplasmic vacuoles, especially in the cells of the supra-optic nucleus. Surprisingly little damage could be found in the substantia nigra and in the neostriatum. The clinical course as well as the pattern and intensity of the brain damage oppose an interpretation as a consequence of preceding convulsive shock therapy.
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PMID:Clinical and neuropathological aspects of long-term damage to the central nervous system after lithium medication. 679 83

We report a case of pulmonary embolism complicated by paradoxical cerebral embolism in a patient with atrial septal aneurysm and patent foramen ovale. The patient was a 65-year-old obese woman, admitted because of sudden development of right-sided hemiplegia and dysarthria. In the few days before hospitalization she noted painful edema of the right leg and suffered from increasing dyspnea. Echo-Doppler examination of the venous bed confirmed the clinical suspicion of deep vein thrombosis. A pulmonary scan showed multiple perfusion defects in both lungs. On cerebral computerized tomography there were two non-haemorrhagic infarct zones. Contrast transesophageal echocardiography revealed a type II atrial septal aneurysm with right-to-left shunting through a patent foramen ovale. The patient was treated by warfarin, followed by implantation of a caval filter, with a good outcome. Paradoxical embolism may be more common than currently thought. In cases of pulmonary embolism, a careful check for clinical symptoms indicative of a possible paradoxical embolism should be performed and, consequently, a search for possible atrial septal aneurysm or patent foramen ovale.
G Ital Cardiol 1994 Jul
PMID:[Paradoxical embolism in a patient with aneurysm of the interatrial septum]. 792 85

A 43-year-old woman was undergoing radiofrequency catheter ablation of a symptomatic supraventricular tachycardia when a patent foramen ovale (PFO) was detected with passage of the diagnostic electrocatheter into the left atrium. Prior echocardiographic studies had been unrevealing. Upon questioning during the procedure, the patient now admitted to frequent and disabling daily migraine attacks, while her family described two recent brief episodes of disorientation and dysarthria, consistent with transient ischemic attacks. The patient was informed of the option of future closure of the PFO, but she insisted on having this done concurrently with her ablation procedure. After successful ablation of the slow pathway considered responsible for the supraventricular tachycardia, an Amplatzer closure device was utilized and the PFO was successfully closed during the same procedure. A postprocedural transesophageal echocardiogram showed complete sealing of the PFO, while over the ensuing 10 months the patient reported virtual elimination of her daily attacks of migrainous headaches, limited to a single episode the day after the procedure and none thereafter.
Clin Cardiol 2006 Aug
PMID:Transcatheter closure of patent foramen ovale during a radiofrequency ablation procedure. 1693 79

An 81-year-old male was admitted to our hospital with dysarthria. Electrocardiogram revealed complete atrioventricular conduction block and then temporary pacemaker was performed. Nine days later, massive hemothorax was presented, but not pericardial effusion existed by echocardiography and chest computer tomography findings. Being a rare complication of transvenous temporary pacemaker insertion, we discussed the delayed hemothorax without associated pericardial effusion.
Int J Cardiol 2007 Jan 18
PMID:Delayed isolated hemothorax caused by temporary pacemaker: a case report. 1709 82

A 5-year-old boy presented with acute onset of chorea and dysarthria. During his workup, a heart murmur was noted. Echocardiography revealed multiple mobile masses in the left ventricular outflow tract related to the mitral valve. Brain magnetic resonance imaging and magnetic resonance angiography did not detect any abnormalities. He underwent a subtotal resection of the mass to preserve valvular function. The anatomic pathology was papillary fibroelastoma.
Pediatr Cardiol 2009 Oct
PMID:Cardiac papillary fibroelastoma presenting as chorea in childhood. 1945 93

Left ventricular myxomas account for 2.5% of all cardiac myxoma cases. There are very few case reports on left ventricular myxoma (LVM) presented after complete surgical resection of left atrial myxoma. Here we report a case of a 58-year-old male presented to the hospital for transient limb weakness, numbness and dysarthria. Magnetic resonance image of the brain revealed multiple thromboembolic cerebrovascular accidents. Transthoracic echocardiogram (TTE) revealed a left atrial myxoma. It was resected completely with good surgical margins. After one and half year he started having dizziness, and transient right sided weakness. Computer tomography scan of the head revealed a progression of thromboembolic disease. TTE revealed a LVM that was confirmed by transesophageal echocardiogram. It was resected with good surgical margins 3 wk after recurrent cerebrovascular accident.
World J Cardiol 2013 Oct 26
PMID:Left ventricular myxoma: Missed vs metastatic. 2419 9

A 26-year-old man presenting with a transient episode of dysarthria and dizziness, 3 weeks prior to admission, was referred to our center to be evaluated for transient ischemic attack (TIA). The patient had been previously admitted to a different hospital and echocardiography was reported normal at that center, but upon presenting to our institution strand-like masses in the left ventricle (LV) were detected. Transesophageal echocardiography (TEE) revealed two distinct mobile LV masses suggesting a diagnosis of papillary fibroelastoma. CT angiography and histopathological studies confirmed this diagnosis.
Case Rep Cardiol 2013
PMID:Cardiac fibroelastoma: a rare cause of stroke in young adults. 2482 79

A 67-year-old man was admitted due to insensitiveness of right upper limb and dysarthria, and treated for suspected lacunar infarction or branch atherosclerotic disease. Carotid ultrasonography showed no abnormalities, and agitated contrast transesophageal echocardiography was performed to detect patent foramen ovale (PFO). Intravenously administered microbubbles did not appear in left atrium by 2-dimensional echocardiography, while contrasts were observed in left atrium using 3-dimensional echocardiography. Real-time 3-dimensional contrast transesophageal echocardiography may be the most useful method for the diagnosis of small PFO. <Learning objective: The presence of patent foramen ovale has been suggested as a potential cause of paradoxical embolism and, in particular, of cerebral emboli in stroke of unknown origin. Transthoracic or transesophageal contrast echocardiography is the method for the detection of the patent foramen ovale, however, real-time 3-dimensional contrast transesophageal echocardiography has an advantage for this purpose.>.
J Cardiol Cases 2013 Apr
PMID:Patent foramen ovale diagnosed by real-time three-dimensional contrast transesophageal echocardiography: A case report. 3053 32

Friedreich's ataxia (FRDA), which occurs in 1/50000 live births, is the most prevalent inherited neuromuscular disorder. Nearly all FRDA patients develop cardiomyopathy at some point in their lives. The clinical manifestations of FRDA include ataxia of the limbs and trunk, dysarthria, diabetes mellitus, and cardiac diseases. However, the broad clinical spectrum makes FRDA difficult to identify. The diagnosis of FRDA is based on the presence of suspicious clinical factors, the use of the Harding criteria and, more recently, the use of genetic testing for identifying the expansion of a triplet nucleotide sequence. FRDA is linked to a defect in the mitochondrial protein frataxin; an epigenetic alteration interferes with the folding of this protein, causing a relative deficiency of frataxin in affected patients. Frataxins are small essential proteins whose deficiency causes a range of metabolic disturbances, including oxidative stress, iron-sulfur cluster deficits, and defects in heme synthesis, sulfur amino acid metabolism, energy metabolism, stress responses, and mitochondrial function. The cardiac involvement seen in FRDA is a consequence of mitochondrial proliferation as well as the loss of contractile proteins and the subsequent development of myocardial fibrosis. The walls of the left ventricle become thickened, and different phenotypic manifestations are seen, including concentric or asymmetric hypertrophy and (less commonly) dilated cardiomyopathy. Dilated cardiomyopathy and arrhythmia are associated with mortality in patients with FRDA, whereas hypertrophic cardiomyopathy is not. Systolic function tends to be low-normal in FRDA patients, with an acute decline at the end of life. However, the literature includes only a few long-term prospective studies of cardiac progression in FRDA, and the cause of death is often attributed to heart failure and arrhythmia postmortem. Cardiomyopathy tends to be correlated with the clinical neurologic age of onset and the nucleotide triplet repeat length (i.e., markers of phenotypic disease severity) rather than the duration of disease or the severity of neurologic symptoms. As most patients are wheelchair-bound within 15 years of diagnosis, the clinical determination of cardiac involvement is often complicated by comorbidities. Researchers are currently testing targeted therapies for FRDA, and a centralized database, patient registry, and natural history study have been launched to support these clinical trials. The present review discusses the pathogenesis, clinical manifestations, and spectrum of cardiac disease in FRDA patients and then introduces gene-targeted and pathology-specific therapies as well as screening guidelines that should be used to monitor cardiac disease in this mitochondrial disorder.
World J Cardiol 2019 Jan 26
PMID:Heart disease in Friedreich's ataxia. 3070 38

Left ventricular hypertrabeculation/noncompaction is a myocardial abnormality of unknown etiology/pathogenesis, which is frequently associated with neuromuscular disorders or chromosomal defects. LVHT in association with a MYOT mutation has not been reported. The patient is a 72-year-old male with a history of strabismus in childhood, asymptomatic creatine-kinase elevation since age 42 years, slowly progressive lower limb weakness since age 60 years, slowly progressive dysarthria and dysphagia since age 62 years, and recurrent episodes of arthralgias and myalgias since age 71 years. He also had arterial hypertension, diverticulosis, hyperlipidemia, coronary heart disease, and a hiatal hernia with reflux esophagitis. Clinical exam revealed mild quadruparesis and proximal wasting of the legs. Whole exome sequencing revealed a known variant in the MYOT gene. Muscle biopsy, previously assessed as inclusion body myopathy, was compatible with the genotype after revision. Cardiologic work-up revealed a left anterior hemiblock, mild myocardial thickening, and noncompaction. This case shows that myotilinopathy may manifest as a multisystem disease, including noncompaction.
Case Rep Cardiol 2020
PMID:Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. 3250 53


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