Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Atrial tachycardias (ATs) may be classified into three broad categories: focal ATs, macroreentry and localised reentry - also known as 'microreentry'. Features that distinguish these AT mechanisms include electrogram characteristics, responses to entrainment and pharmacological sensitivities. Focal ATs may occur in structurally normal hearts but can also occur in patients with structural heart disease. These typically arise from preferential sites such as the valve annuli, crista terminalis and pulmonary veins. Macro-reentrant ATs occur in the setting of atrial fibrosis, often after prior catheter ablation or post atriotomy, but also de novo in patients with atrial myopathy. High-resolution mapping techniques have defined details of macro-reentrant circuits, including zones of conduction block, scar and slow conduction. Localised reentry occurs in the setting of diseased atrial myocardium that supports very slow conduction. A characteristic feature of localised reentry is highly fractionated, low-amplitude electrograms that encompass most of the tachycardia cycle length over a small diameter. Advances in understanding the mechanisms of ATs and their signature electrogram characteristics have improved the efficacy and efficiency of catheter ablation.
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PMID:Atrial Tachycardias and Atypical Atrial Flutters: Mechanisms and Approaches to Ablation. 3111 88

A 67-year-old man developed weakness and atrophy of the anterior compartment of the lower leg at age 53 years, followed by weakness of proximal muscles of the upper limb. His father had difficulties in walking in his thirties and died of heart disease at age 45 years. He also had mild respiratory weakness without cardiac involvement. Muscle histology showed spheroid or cytoplasmic bodies-like inclusions with moth-eaten appearance and irregular intramyofibrillar network. Electron microscopy revealed abnormally thickened and disorganized Z lines (Z line streaming) between the surrounding myofibrils and electron-dense globular deposits. These pathological findings apparently suggested myofibrillar myopathy. However, genetic analysis revealed a mutation (c.5566G>A, p.E1856K) in MYH7 gene, that is responsible for Laing-type distal myopathy (LDM). This mutation was previously reported in a study from Austria. This is the first report of LDM in the Japanese population .
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PMID:[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene]. 3176 35


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