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

Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete (or not) heart block, cereberal dysfunction and CSF protein above 100 mg/dl. Autopsies from patients with KSS revealed widespread tissue distribution mtDNA deletions. These deletions result in significantly lower activities of the enzymes of the respiratory chain. The same deletion of mitochondrial DNA present in skeletal muscle is found in myocardial tissue. An 18-year-old girl diagnosed with the KSS was admitted to our hospital because of an upper respiratory tract infection and dysphagia. ECG showed cardiac conduction defects. The patient had no history of syncope. At her surface ECG there was a complete RBBB (QRS duration approximately 130 ms), a clockwise rotation with an axis of approximately 90 degrees and a slight QT prolongation (420 ms). Echocardiography showed prolapse with thickening and degeneration of both mitral valve leaflets but without mitral regurgitation. The patient was started on a diet rich in potassium and pharmaceutical therapy with magnesium oxide (240 mg of elemental Mg p.o. per day), 1 g of calcium carbonate t.i.d., vitamin D (calcitriol 0.25 microg p.o. per day) and coenzyme Q(10) 100 mg daily and discharged 6 days later with slightly improved biochemical profile but apparent clinical improvement. Urgent pacemaker implantation was decided but unfortunately the patient died due to acute cardiac arrest 10 days later.
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PMID:Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. 1200 93

We reported a patient with cardio-facio-cutaneous (CFC) syndrome associated with moyamoya syndrome. The patient was referred at 6 years 5 months with left hemiplegia and right-sided eye deviation. He had an apparently short stature, macrocephaly, left ptosis and atopic skin, and was odd looking. He exhibited an incomplete right bundle branch block on electrocardiogram and an atrial septal defect on ultrasound cardiography. He was diagnosed as having CFC syndrome. Head magnetic resonance imaging showed a flow void in the bilateral basal ganglia, but did not show any ischemic changes. Magnetic resonance angiography showed bilateral stenosis with an internal carotid artery at the Willis artery ring level and bilateral moyamoya. Contrast angiography demonstrated occlusion of both middle cerebral arteries. Cerebrovascular anomalies have not previously been reported in CFC syndrome. This is the first case of CFC syndrome associated with moyamoya syndrome.
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PMID:Cardio-facio-cutaneous syndrome and moyamoya syndrome. 1201 68

The aim of this study was to evaluate ocular findings in children with nonsyndromic cleft lip and palate. Fifty-seven consecutive patients with cleft lip and/or palate seeking orthodontic treatment during 2006 were examined prospectively from an ophthalmological standpoint. Mean age of the patients was 9.2 years (range: 15 days to 18 years). Of the 57 children in total, five cases (8.7%) had cleft lip, six cases (10.5%) had isolated cleft palate and 46 cases (80.7%) had both cleft lip and palate. Thirty-seven of 46 cases with cleft lip and palate were unilateral and 20 were bilateral. Eleven of the 57 patients (19.1%) had ocular findings including congenital nasolacrimal duct obstruction (5 patients), ptosis (1 patient), bilateral iris coloboma (1 patient), dermoid tumor (1 patient), vernal conjunctivitis (1 patient), and esophoria (1 patient). Twenty patients (35%) had one or more systemic abnormalities such as motor mental retardation, hearing loss, syndactylia, growth retardation, double urinary tract, vesicoureteral reflux, penile nevus, hypospadias, non-redundant testis, inguinal hernia, mitral valve prolapsus, ventricular septal defect, complete right bundle branch block, and hirsutism. Though not very often, cleft lip and palate patients may have several associated ocular changes, and these patients should also be examined by ophthalmologists.
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PMID:Ocular findings in children with nonsyndromic cleft lip and palate. 1995 Aug 42

The prognosis of progressive ophthalmoplegia in patients with large-scale mitochondrial DNA deletions is highly variable and almost unpredictable. The risk to develop cardiac involvement and sudden cardiac death is strikingly high, especially in patients with Kearns-Sayre syndrome (KSS). The most typical cardiac complications of the disease are conduction defects, which usually begin with left anterior fascicular block with or without right bundle branch block (RBBB), progressing sometimes rapidly to complete atrioventricular block. Other cardiac manifestations reported are first or second degree of AV block, QT prolongation, torsades de pointes ventricular tachycardia, and rarely dilated cardiomyopathy. Most frequently syncope, sometimes even sudden cardiac death, is the first clinical sign of the cardiac disease in KSS. Due to these life-threatening cardiac conditions, patients should be carefully monitored for cardiac signs and symptoms and pacemaker implantation should be suggested early to avoid sudden cardiac arrest in KSS.Here, we present two cases of KSS with life-threatening syncope due to complete atrioventricular block. To emphasize the importance of an early pacemaker implantation, we review the literature on cardiac complications in KSS in the last 20 years. In almost all of the reviewed cases, ophthalmoplegia or ptosis was present before the cardiac manifestations. In most of the cases, syncope was the first symptom of the cardiac involvement. There was no correlation between the age of the onset of the disease and the onset of cardiac manifestations.With our current report, we increase awareness for life-threatening cardiac complications in patients with KSS.
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PMID:Cardiac arrest in kearns-sayre syndrome. 2343 Aug 46

Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed.
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PMID:Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder. 2653 Feb 6

The association between the mitral valve prolapse and the sudden Cardiac Death remains controversial, the high prevalence of this valvulopathy contrasting with the low incidence of sudden death in this population. We report the case of a 54-year-old woman admitted for a sudden cardiac death, revealing a bi-prolapse with low-grade leakage, leading to the implantation of a subcutaneous automatic defibrillator. Combined echocardiography and cardiac MRI can identify the mitral annular disjunction, the rolling motion of the posterior face of the mitral annulus towards the myocardium, and the myocardial fibrosis of the inferolateral wall induced by streching forces of the sub valvular apparatus, that may lead to ventricular arrhythmias. More than the conventional clinical parameters (young woman, ventricular premature beats with a right bundle branch block morphology, mitral bi-prolapse), mitral annular disjunction and myocardial fibrosis are to be considered as powerful markers of the rhythmic risk of mitral prolapse and must be systematically sought and integrated into the prognostic evaluation of these patients. In the absence of randomised trials, therapeutic management is difficult especially in primary prevention, and needs Heart Team advice.
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PMID:[Mitral prolapse and sudden death. A case report]. 3303 13


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