Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The contribution of M-mode echocardiography to cardiac diagnosis was evaluated in a series of 1,000 successive patients. Among subjects in whom a presumptive clinical diagnosis had been made, echocardiography demonstrated totally unexpected findings in 10 per cent, supported the clinical diagnosis in 50 per cent and was entirely within normal limits in 19 per cent. Among patients with evidence of heart disease but no firm clinical diagnosis, echocardiography established the diagnosis in 23 per cent, including 20 per cent of all patients referred for evaluation of chest pain or arrhythmia of unclear etiology. "Missed" clinical diagnosis frequently involved patients with mitral valve prolapse, congestive cardiomyopathy, pericardial disease or asymmetrical septal hypertrophy of the heart. This study quantifies the amount of independent information contributed by echocardiography to cardiac diagnosis and demonstrates that this technic provides data of important clinical relevance in a surprisingly large number of cardiac patients.
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PMID:Contribuiton of M-mode echocardiography to cardiac diagnosis. An assessment in 1,000 successive patients. 70 38

Mutations of the cardiac beta-myosin heavy-chain (beta-MHC) gene cause hypertrophic cardiomyopathy (HCM). Recent genotype-phenotype correlation studies have shown that mutations carry prognostic significance. We studied five unrelated Chinese families with hypertrophic cardiomyopathy. Exons 3-27 and 40 of the beta-MHC gene were screened with both the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) method and the cycle sequencing of the PCR products. A previously reported heterozygous mutation Arg719Gln (arginine-->glutamine in codon 719) in exon 19 was found in one family. The proband is a 30-year-old female diagnosed at age of 25 years when she presented with symptoms of chest pain, palpitations, and frequent incidents of dizziness and syncope. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atrial enlargement. There was no obstruction of the left ventricular outflow tract (LVOT). The patient also developed atrial fibrillation. The proband's mother and one of her sisters had similar clinical manifestations and both died suddenly at the age of 38 years. In addition, two silent nucleotide substitutions (ACT63ACC, TTT244TTC) in the cardiac beta-MHC gene were identified in the other four families. These synonymous mutations did not cosegregate with the disease in the families and they were also present in the 60 healthy and age-matched control subjects. Of the five families studied, we did not find any missense mutation in the remaining four families. The missense mutation Arg719Gln found in the Chinese family is associated with a malignant phenotype of severe clinical symptoms and poor survival prognosis. This mutation also causes atrial enlargement and atrial fibrillation. Our study provides further evidence that the mutation, which alters the charge of the myosin heavy chain, is associated with a serious clinical outcome.
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PMID:A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family. 1149 78

A 41-year-old man was referred to our hospital for further examination because of abnormal electrocardiography findings at a health-check examination. Transthoracic echocardiography showed left ventricular hypertrophy confined to the most distal portion of the left ventricle, which is a typical feature of apical hypertrophic cardiomyopathy. Ten years later, he was again admitted for the evaluation of chest pain. Echocardiography showed asymmetrical septal hypertrophy in addition to apical hypertrophy. These findings demonstrate morphologic evolution in hypertrophic cardiomyopathy from apical hypertrophy to asymmetrical septal hypertrophy.
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PMID:Hypertrophic cardiomyopathy with progression from apical hypertrophy to asymmetrical septal hypertrophy: a case report. 1587 37

A 50-year-old man presented with chest pain and recurrent episodes of syncope. Physical examination revealed a loud systolic murmur at the left sternal border with accentuation in erect position. Transthoracic echocardiography demonstrated severe asymmetrical septal hypertrophy and systolic anterior motion of the anterior mitral valve leaflet which were diagnostic for hypertrophic cardiomyopathy. Interestingly, color Doppler examination of the left ventricle showed aliasing of the left anterior descending coronary artery and intra-myocardial coronaries.
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PMID:Myocardial bridge in hypertrophic cardiomyopathy: imaging with color Doppler echocardiography. 1826 19

An 11-year-old girl with no significant medical or ocular history presented to the emergency department with asymmetrical eyelid swelling for 2 days. She was noted to have eyelid crepitus on examination. The patient reported a prolonged episode of crying followed by chest pain and dyspnea that resolved prior to her presentation. Both face and chest CT showed extensive air tracking in the subcutaneous tissues of the neck and face and pneumomediastinum without pneumothorax. The patient was discharged home without further intervention. On follow-up 1 to 2 weeks later, she had complete resolution of her symptoms. While pneumomediastinum is extremely rare in the pediatric population, it can be considered in the differential diagnoses of eyelid swelling and crepitus in the appropriate context. To this author's knowledge, this is the first pediatric case of pneumomediastinum with an initial presentation of eyelid swelling.
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PMID:Eyelid swelling, an unusual presentation of pneumomediastinum. 2483 58

We present the case of a previously fit 84-year-old female with long-standing systemic hypertension and the echo phenotype of hypertrophic cardiomyopathy (HCM) - asymmetrical septal hypertrophy, significant resting left ventricular (LV) outflow obstruction and mitral regurgitation (MR) secondary to systolic anterior motion (SAM) of the mitral valve. Valsalva provocation caused an increase in LVOT dynamic gradient and MR severity. The patient presented with a progressive decrease in exercise capacity along with chest pain relieved by rest or sublingual GTN. Exercise stress echo demonstrated a paradoxical response with reduction of both LVOT gradient and severity of MR. There was evidence of inducible regional wall motion abnormalities associated with no change in LV cavity size. Coronary angiogram revealed significant triple vessel disease.
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PMID:Ischaemia as a cause of LVOT gradient reversal in HCM. 2887 Sep 83

Wellens' syndrome is characterised by particular changes in electrocardiogram (ECG) precordial lead T-waves accompanied by proximal stenosis of the left anterior descending (LAD) artery. Two cases of electrocardiographic changes associated with Wellens' syndrome are presented here. Case 1, a 55-year-old female, was transferred to the First Affiliated Hospital of Xi'an Jiaotong University with intermittent and laborious angina pectoris. Her first ECG on admission revealed T-wave inversion in leads V1-V3 and biphasic T-waves in V4. Case 2, an 85-year-old female, presented with dyspnoea and paroxysmal chest pain. Her admission ECG displayed asymmetrical T-wave inversion in leads V1-V3, I, and aVL, and depressed ST segments in leads V2-V5. In this patient, drug-eluting stents were placed on a LAD artery lesion and right coronary artery occlusion. The potential of ECGs to aid decision-making in severe myocardial infarction is straightforward, particularly in patients with characteristic ECGs, however, Wellens' syndrome has a wide spectrum of clinical manifestations and the ECG patterns may manifest itself persistently over a period of weeks. Therefore, ECG parameters should be combined with coronary angiography to confirm the presence of lesions.
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PMID:Two case reports of Wellens' syndrome. 3028 19