Cardiogenetics

Journal Browser

► Journal Browser

Cardiogenetics, Volume 12, Issue 4 (December 2022) – 2 articles

Cover Story (view full-size image): 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. The BGN mutation has been recognized to be correlated with aortic aneurysm and aortic dissection. It has not yet been found 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. View this paper

Issues are regarded as officially published after their release is announced to the table of contents alert mailing list.

You may sign up for e-mail alerts to receive table of contents of newly released issues.

PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.

Abstract

Mutations in gene encoding filamin C (FLNC) have been historically associated with hypertrophic cardiomyopathy (HCM) and myofibrillar myopathy [...] Full article

6 pages, 646 KiB

Open AccessCase Report

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

by Lexie Kolton, Charlie Robin, Jianfeng Xu, Jun Wei, Rupa Patil and Jason Robin

Cardiogenetics 2022, 12(4), 270-275; https://doi.org/10.3390/cardiogenetics12040026 - 09 Oct 2022

Viewed by 2570

Abstract

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. Full article

(This article belongs to the Topic Biomarkers in Cardiovascular Disease—Chances and Risks)

► Show Figures

Figure 1

Journal Menu

Journal Browser

Cardiogenetics, Volume 12, Issue 4 (December 2022) – 2 articles

Further Information

Guidelines

MDPI Initiatives

Follow MDPI