Genetic Study of <i>PHACTR1</i> and Fibromuscular Dysplasia, Meta-Analysis and Effects on Clinical Features of Patients
Ewa Warchol-Celinska, Takiy-Eddine Berrandou, Aleksander Prejbisz, Adrien Georges, Délia Dupré, Magdalena Januszewicz, Elżbieta Florczak, Katarzyna Jóźwik−Plebanek, Piotr Dobrowolski, Witold Śmigielski, Wojciech Drygas, Jacek Kądziela, Adam Witkowski, Marek Kabat, Małgorzata Szczerbo‐Trojanowska, Marco Pappaccogli, Alexandre Persu, Xavier Jeunemaı̂tre, Andrzej Januszewicz, Nabila Bouatia‐Naji
Abstract
F ibromuscular dysplasia (FMD) is a common cause of renovascular hypertension in middle-aged women lacking cardiovascular risk factors. FMD is an intriguing group of noninflammatory arterial deformations, which results in stenosis, and in some cases, aneurysms and dissections of medium-sized arteries. Mostly asymptomatic, the clinical manifestations of FMD depends on the arterial bed affected and is usually diagnosed in the context of resistant hypertension or after a stroke, particularly cervical artery dissection. 1 FMD is increasingly identified after the occurrence of spontaneous coronary artery dissection, an underdiagnosed cause of acute myocardial infarction. This pleiotropic genetic locus is also known to associate with several neurovascular diseases, 3 atherosclerotic acute myocardial infarction, 4 and spontaneous coronary artery dissection. ere, we aimed to replicate the association between PHACTR1 and FMD in a Polish case-control study and assess the effect of this locus on FMD, hypertension, and cardiac features among cases.