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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Noonan syndrome is a relatively common genetic disorder and the second most common cause of congenital heart disease after trisomy 21. The spectrum of cardiac anomalies in Noonan syndrome typically involves pulmonary valve stenosis occasionally in conjunction with hypertrophic cardiomyopathy. Mitral valve involvement is a rare finding in Noonan syndrome and is most commonly associated with either mitral valve prolapse or abnormal valvular insertion causing left ventricular outflow tract obstruction. Patients with Noonan syndrome typically have preserved fertility and, given the success of cardiac surgery and medical management of heart failure in this population, are beginning to present more commonly as parturients in adulthood. Maternal physiologic changes during pregnancy introduce an added complexity to hemodynamic management and anesthetic considerations during labor and delivery. In this article, we present a case of a patient with Noonan syndrome with severe mitral stenosis, pulmonary valve insufficiency, and severe restrictive and obstructive pulmonary disease who presented preterm for delivery due to increased dyspnea at rest. Here we review the pathophysiology behind Noonan syndrome and peripartum management strategies in a patient with severe combined cardiac and pulmonary disease.
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PMID:Severe Cardiopulmonary Disease in a Parturient With Noonan Syndrome. 3274 32

Marfan syndrome (MFS) is a heritable systemic connective tissue disease with important cardiovascular involvement, including aortic root dilatation and mitral valve prolapse. Life expectancy in patients with MFS is mainly determined by cardiovascular complications, among which aortic dissection or rupture are most dreaded. In recent years, heart failure and ventricular arrhythmia have drawn attention as extra-aortic cardiovascular manifestations and as additional reported causes of death. Imaging studies have provided data supporting a primary myocardial impairment in the absence of valvular disease or cardiovascular surgery, while studies using ambulatory ECG have demonstrated an increased susceptibility to ventricular arrhythmia. In this paper, current literature was reviewed in order to provide insights in characteristics, pathophysiology and evolution of myocardial function, heart failure and ventricular arrhythmia in MFS.
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PMID:Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review. 3299 82


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