Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022116 (ischemia)
 91,303 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a patient with Williams syndrome who suffered a cerebrovascular accident. Clinical evaluation demonstrated the presence of carotid and cerebral arterial stenoses. We believe these lesions led to acute cerebrovascular ischemia and a non-hemorrhagic cerebral infarction. It is possible the stenoses were exacerbated by a vasculitis. The stenoses were identified by both invasive and noninvasive imaging studies. These studies may have a role in the evaluation of persons with Williams syndrome.
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PMID:Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome. 807 44

Sixty-seven asymptomatic patients were enrolled after a first uncomplicated myocardial infarction (MI) so as to study the relevance of reversible myocardial dysfunction in determining left ventricular function soon after the acute episodes and 12 months later. Moreover, the potential role of silent ischemia in conditioning the evolutive aspects of contractile dysfunction has been investigated. Postextrasystolic potentiation during two-dimensional echocardiographic (2-D echo) monitoring has been used to detect the presence of viable myocardium in asynergic myocardial segments. Results of electrocardiographic (ECG) ambulatory monitoring at predischarge determined patient groups: Group A included 49 patients without ST changes during monitoring, while Group B included 18 patients with silent ischemia. Incidence of reversible myocardial dysfunction was similar in the two study groups (82 vs. 86%, p = NS). Group B patients were older (59.6 +/- 6.7 vs. 50.6 +/- 10.6 years, p < 0.015) and had lower ejection fractions (EFs, 43.4 +/- 6.4% vs. 51.2 +/- 8.3%, p = 0.026) and higher at-rest wall-motion scores (WMSs, 11.4 +/- 5.9 vs. 7.2 +/- 3.8, p = 0.019). Left ventricular end-diastolic volume (LVEDV) and potentiated WMS did not differ. At 1-year examination, Group B patients exhibited a greater LVEDV index (96 +/- 6.5 vs. 70.7 +/- 14 ml/m2, p < 0.002) with a worsening both in rest and in potentiated wall-motion score index (12.8 +/- 4.6 vs. 5.3 +/- 1.8, p < 0.001; 9.2 +/- 3.6 vs. 4.8 +/- 2.2, p < 0.001, respectively). Left ventricular EF remained significantly depressed in Group B patients (42 +/- 8.7% vs. 55.5 +/- 8.1%, p < 0.002).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Silent ischemia and loss of reversible myocardial dysfunction following myocardial infarction. 824 9

In order to clarify the characteristics of fatty acid metabolism in patients with myocardial infarction (MI), we performed myocardial imaging with 123I-beta-methyl-p-iodophenylpentadecanoic acid (BMIPP) and we compared these findings with exercise stress (Ex) and resting myocardial perfusion imaging with 99mTc-methoxyisobutylisonitrile (MIBI) and left ventricular wall motion index (WMI) which were obtained by left ventriculography. We studied 55 patients with MI, 14 patients with recent MI (RMI) and 41 patients with old MI (OMI), and myocardial images were divided into 17 segments and myocardial uptake of the radionuclide was graded from 0 (normal) to 3 (maximal abnormality). In 28 patients we compared segmental defect score (SDS) with WMI which were obtained by centerline method at the corresponded segments. As a whole, the mean total defect scores (TDSs) of BMIPP and Ex were similar and they were greater than the mean TDS of resting perfusion. In 30 patient (55%) TDS of BMIPP was greater than that of TDS of resting perfusion. In 24 patients perfusion abnormality developed by Ex and the location of BMIPP abnormality coincided with the abnormality of Ex. But in the other 6 patients Ex did not induce any abnormality and they were all RMI and infarcted coronary artery was patent. However in the group with TDS of BMIPP identical to TDS of resting perfusion (25 patients), 92% did not show myocardial perfusion abnormality after Ex. In the comparison of SDS and WMI, myocardial segments were divided into 3 groups; both SDSs of BMIPP and resting perfusion were normal or borderline abnormality (Group 1, 82 segments), SDS of resting perfusion was normal or borderline and SDS of BMIPP was definitely abnormal (Group 2, 10 segments) and both SDSs of BMIPP and resting perfusion were definitely abnormal (Group 3, 48 segments). In Group 1, WMS (-0.41 +/- 0.77) was significantly (p < 0.001) greater than those of Group 2 (-2.14 +/- 0.50) and Group 3 (-2.32 +/- 0.67). But there was no difference between Group 2 and 3. These findings suggested that in the segments with mismatch between BMIPP and resting perfusion reflects stunned myocardium. These results suggested that in half of the patients with MI, abnormal fatty acid metabolism may appear in viable myocardium such as jeopardized myocardium and myocardium which recently recovered from severe ischemia like acute MI and BMIPP imaging was useful to know the history of myocardial ischemia.
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PMID:[Clinical significance of myocardial 123I-BMIPP imaging in patients with myocardial infarction]. 913 26

Williams syndrome is a complex syndrome comprising developmental abnormalities, craniofacial dysmorphic features, and cardiac anomalies. The most common cardiac anomaly is supravalvular aortic stenosis. We report a case of a 6-year-old girl with Williams syndrome who presented with decompensated heart failure due to ischemic cardiomyopathy. Her only significant cardiac anomaly was severe stenosis of the left main coronary artery. She subsequently died despite surgical revascularization. Isolated coronary anomalies are rare in Williams syndrome but should be considered especially in the presence of heart failure or ischemia.
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PMID:Severe coronary artery disease in the absence of supravalvular stenosis in a patient with Williams syndrome. 1554 15

Williams-Beuren syndrome (WBS) is a multisystem genetic disorder comprising of craniofacial, developmental, and cardiac malformations. The most common cardiac defects found are supravalvar aortic stenosis and peripheral pulmonary stenosis. However, WBS should be regarded as a general arteriopathy consisting of stenoses of medium- and large-sized arteries including the coronary arteries. Cardiac manifestations are often the initial reason for referral and careful cardiovascular assessment is important as coronary artery involvement confers a significant anesthetic risk and may be associated with ischemia and resultant ventricular dysfunction. Here we review the literature and describe a 2-year-old boy with evolving clinical features of WBS. He presented to our pediatric cardiology department for a routine assessment of peripheral pulmonary branch stenosis. A 12-lead electrocardiogram showed changes consistent with left ventricular ischemia and a two-dimensional echocardiogram showed reduced left ventricular function and mild supravalvar aortic stenosis. Subsequent cardiac catheterization diagnosed severe left main coronary artery stenosis. Deteriorating ventricular function secondary to acute ischemia postcatheterization required intensive care treatment from which the patient did not recover. This case report highlights the necessity of careful cardiology assessment without delay in patients with a suspicion of WBS. Isolated coronary stenosis though rare in WBS should be considered in the presence of ischemia or reduced ventricular function. Larger case series are needed to further characterize the correlation between WBS and acute coronary events.
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PMID:Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. 2370 10

WBS is a rare disorder caused by mutations in the chromosomal sub-band 7q11.23 involving the elastin gene. The clinical features (craniofacial, developmental, and cardiovascular abnormalities) are variable. The association with cardiac anomalies is a well-recognized feature, and SVAS is the most common cardiac defect found. End-stage ischemic heart disease is unusual in this setting but when it occurs, OHT remains the final therapeutic option. This decision can be difficult to determine, and it must be tailored to the individual patient based on the clinical status and concomitant cardiovascular and multisystem lesions. To date, no cases of OHT in patients with WBS have been described. We present a 14-month-old patient with WBS who developed severe LV dysfunction secondary to ischemia following a complex staged surgery for SVAS repair. He underwent successful OHT with no post-operative complications, and at three-month follow-up, he remains asymptomatic on standard immunosuppressive therapy. This case constitutes the first demonstration that OHT may be indicated for extended survival in selected children with WBS and we discuss the basic principles for extending the indication for OHT to this scenario as well as the particularities for post-transplant care.
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PMID:End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation. 2691 34