Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia
Aline Verstraeten, Melanie Perik, Anna Baranowska, Josephina Meester, Lotte Van Den Heuvel, Jarl Bastianen, Marlies Kempers, Ingrid P.C. Krapels, Angela H.E.M. Maas, Andrea L. Rideout, Anthony Vandersteen, Glenda Sobey, Diana Johnson, Erik Fransén, Neeti Ghali, Tom R. Webb, Abtehale Al-Hussaini, Peter de Leeuw, P. Delmotte, Marilucy Lopez‐Sublet, Marco Pappaccogli, Muriel Sprynger, Laurent Toubiana, European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI), Lut Van Laer, Fleur S. van Dijk, Miikka Vikkula, Nilesh J. Samani, Alexandre Persu, David Adlam, Bart Loeys, Christophe Beauloye, Patrick Chenu, Frank Hammer, Pierre Goffette, Parla Astarci, André Peeters, Robert Verhelst, Patricia Van der Niepen, Frank Van Tussenbroek, Tine De Backer, Sofie Gevaert, Dimitri Hemelsoet, Luc Defreyne, Hilde Heuten, Laetitia Yperzeele, Thijs van der Zijden, Jean‐Philippe Lengelé, Jean-Marie Krzesinski, Peter Verhamme, Thomas Vanassche, Pasquale Scoppettuolo, Jean-Claude Wautrecht, Bojan Jelaković, Živka Dika, Rosa María Bruno, Stefano Taddei, Caterina Romanini, Ilaria Petrucci, Franco Rabbia, Silvia Di Monaco, Gian Paolo Rossi, Silvia Lerco, Pietro Minuz, Giancarlo Mansueto, Sergio De Marchi, Denise Marcon, Bram Kroon, Wilko Spiering, Bert‐Jan H. van den Born, Esteban Poch, Enrique Montagud‐Marrahí, Alicia Molina, Elena Guillén, Marta Burrel, Gregor Wuerzner, Lucia Mazzolai, Giacomo Buso
Abstract
Spontaneous coronary artery dissection (SCAD) is a prime cause of acute myocardial infarction in women < 50 years. Fibromuscular dysplasia (FMD) is present in 17% to 86% of patients with SCAD.1 In contrast, the prevalence of SCAD in FMD cohorts is <3%.1 Although the association between these 2 conditions has gained significant interest over the past years, the convergent underlying molecular mechanisms remain elusive. [...]