Author + information
- Received August 9, 2018
- Accepted September 4, 2018
- Published online March 18, 2019.
- Bert Vandeloo, MDa,∗ (, )
- Alessia Azzano, MDa,
- Danny Schoors, MD, PhDa,
- Aline Verstraeten, PhDb,
- Lut Van Laer, PhDb,
- Bart Loeys, MD, PhDb and
- Paul Vermeersch, MD, PhDa,c
- aDepartment of Cardiology, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium
- bCenter of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium
- cAntwerp Cardiovascular Center, ZNA Middelheim, Antwerp, Belgium
- ↵∗Address for correspondence:
Dr. Bert Vandeloo, Universitair Ziekenhuis Brussel—Dienst Cardiologie, Laarbeeklaan 101, 1090 Jette, Belgium.
- Loeys-Dietz Syndrome
- optical coherence tomography
- percutaneous coronary intervention
- spontaneous coronary artery dissection
A 52-year-old man was admitted with anterior ST-segment elevation myocardial infarction after lifting heavy weights. Urgent coronary angiography showed mild narrowing of the mid left anterior descending coronary artery (LAD) (Figure 1A). However, 4 days later, ventricular fibrillation occurred. After resuscitation, the mid LAD appeared “collapsed.” Intracoronary imaging with optical coherence tomography revealed a false lumen extending from the left main coronary artery to the distal LAD and 2 intimal tears at the distal LMCA and mid LAD (Figures 1B and 1B1 to 1B5). Optical coherence tomography–guided implantation of 3 drug-eluting stents was performed, aiming to seal both intimal tears and to strut the collapsed intima (Figures 1C and 1C1 to 1C5).
Upon clinical examination, enlarged arm span, reduced upper segment–to–lower segment ratio, broad uvula, pes plani, pectus asymmetry, and mild scoliosis were observed. Additional magnetic resonance angiography did not show signs of fibromuscular dysplasia, aortic dilatation, or arterial aneurysms, but tortuosity of the common iliac arteries and circle of Willis was noted (Figure 1D). On the basis of these clinical and vascular features, reminiscent of Loeys-Dietz syndrome, genetic analysis identified a novel missense mutation, c.1082A>C (p.[Asn361Thr]), in the MH2 domain of SMAD2.
Myocardial infarction with nonobstructive coronary arteries was caused by a type 2 spontaneous coronary artery dissection (SCAD). Although conservative management is preferred because favorable healing occurs in the vast majority, and percutaneous coronary intervention is challenging, recurrence of myocardial infarction and sudden cardiac death are feared complications. Intravascular imaging by OCT might improve technical success and outcome of percutaneous coronary intervention for SCAD when needed (1–3).
The underlying arteriopathy should always be sought. There is a strong association of fibromuscular dysplasia and SCAD. Inherited connective tissue disorders such as Marfan, Ehler-Danlos, and Loeys-Dietz syndromes should be considered as well.
All patients with SCAD should undergo a thorough history, clinical examination, and imaging of the extracoronary arteries. Subsequent genetic testing can be considered in selected cases.
Recently, loss-of-function SMAD2 mutations have been shown to cause a wide spectrum of aortic and arterial aneurysmal disease (4). This case represents the first documented SCAD in a SMAD2 mutation carrier.
The authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received August 9, 2018.
- Accepted September 4, 2018.
- 2019 American College of Cardiology Foundation
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