Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0151744 (myocardial ischemia)
 31,282 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Williams syndrome (WS) is a malformation syndrome characterized by cardiovascular disease (supravalvular aortic stenosis, peripheral pulmonary stenosis), facial dysmorphism and growth/developmental delay, and now is known to be caused by deletion of elastin gene and other contiguous genes at chromosome 7. Sudden death has been reported in more than 25 patients with WS so far. Bird, et al (1996) reported 10 sudden death cases, 6 of which were associated with cardiac catheterization. Wessel, et al (2004) estimated the incidence of sudden death to be around 1/1000 patient years. Clinical and pathological findings in sudden death patients suggest that coronary artery stenosis, ventricular hypertrophy and myocardial ischemia are risk factors for sudden death in WS.
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PMID:[Williams syndrome]. 1600 80

Since the first description in 1961, several case reports have documented an increased incidence of anesthesia-related cardiac arrest in patients with Williams-Beuren syndrome, commonly known as Williams syndrome (WS). Widespread arteriopathy secondary to an elastin gene defect results in various cardiac defects, including supravalvar aortic stenosis (SVAS) and coronary artery anomalies, which can increase the risk of myocardial ischemia. Even though patients with WS are known to have increased risk of adverse events during anesthesia and sedation, they often undergo several procedures that require anesthesia during their lifetimes, and cases of perianesthetic cardiac arrest continue to be reported. To date, no prospective studies have been reported that quantify anesthetic risk in individual patients with WS. In this article, we review the clinical manifestations of WS, propose a consensus, expert-informed method to estimate anesthetic risk based on the current literature, and provide recommendations for periprocedural management of this patient population.
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PMID:Risk assessment and anesthetic management of patients with Williams syndrome: a comprehensive review. 2645 18

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