Could the BGN Gene Be Pathogenic with Spontaneous Coronary Artery Dissection (SCAD) and Fibromuscular Dysplasia (FMD)?

被引:0
作者
Kolton, Lexie [1 ]
Robin, Charlie [1 ]
Xu, Jianfeng [1 ]
Wei, Jun [1 ]
Patil, Rupa [1 ]
Robin, Jason [1 ]
机构
[1] Acad Affiliate Univ Chicago, North Shore Univ Hlth Syst, Pritzker Sch Med, Evanston, IL 60201 USA
基金
英国医学研究理事会;
关键词
SCAD; BGN variant; FMD; genetics; myocardial infarction;
D O I
10.3390/cardiogenetics12040026
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
BACKGROUND. Spontaneous coronary artery dissection (SCAD) is a cause of myocardial infarction, especially in younger women without cardiovascular risk factors. Patient management and diagnostics are still largely based on retrospective and observational studies. Most patients with SCAD report chest pain and have elevated biomarkers with ECG findings. SCAD can lead to cardiogenic shock, ventricular arrhythmias and cardiac arrest, and is commonly associated with fibromuscular dysplasia (FMD). Genetic associations are still in their infancy with this disease process. METHODS. An Invitae 29 gene aortopathy panel was performed on a mother with a thoracic aortic aneurysm and her daughter who presented with SCAD and was noted to have FMD. RESULTS. The patient and her mother were both noted to have a heterozygous mutation of the Biglycan (BGN) gene (Variant c.1030T > G (p.Tyr344His)) of undetermined significance. An extensive literature review was performed, including a review of the UK Biobank. This is the first case to our knowledge showing a possible link between the BGN mutation and SCAD/FMD. CONCLUSIONS. The BGN mutation has been recognized to be correlated with aortic aneurysm and aortic dissection. It has not yet been explored to be associated with SCAD/FMD. This paper highlights the potential link between the BGN gene and SCAD/FMD. Further research looking at this association is warranted.
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收藏
页码:270 / 275
页数:6
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