Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and syncope. Orthostatic hypotension is a common clinical problem, but the underlying mechanisms have not been fully delineated. It has been reported that mutations in genes encoding proteins of the catecholamine metabolism are associated with orthostatic hypotension. Catecholamines play an essential role in regulation of vascular tone and blood pressure.
van den Berg MP, Almomani R, Biaggioni I, van Faassen M, van der Harst P, Sillje HHW, Mateo Leach I, Hemmelder MH, Navis G, Luijckx GJ, de Brouwer APM, Venselaar H, Verbeek MM, van der Zwaag PA, Jongbloed JDH, van Tintelen JP, Wevers RA, Kema IP
タイトル
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.