Cardiomyopathy in Genetic Aortic Diseases

Frontiers in Pediatrics

article

Laura Muiño-Mosquera¹  Julie De Backer³ 

[1] Department of Pediatrics, Division of Pediatric Cardiology, Ghent University Hospital;Center for Medical Genetics, Ghent University Hospital;Department of Cardiology, Ghent University Hospital

关键词: Marfan syndrome;    HTAD;    cardiomyopathy;    arrhythmia;    myocardial disease;    FBN1 gene;   

DOI  :  10.3389/fped.2021.682390

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Genetic aortic diseases are a group of illnesses characterized by aortic aneurysms or dissection in the presence of an underlying genetic defect. They are part of the broader spectrum of heritable thoracic aortic disease, which also includes those cases of aortic aneurysm or dissection with a positive family history but in whom no genetic cause is identified. Aortic disease in these conditions is a major cause of mortality, justifying clinical and scientific emphasis on the aorta. Aortic valve disease and atrioventricular valve abnormalities are known as important additional manifestations that require careful follow-up and management. The archetype of genetic aortic disease is Marfan syndrome, caused by pathogenic variants in the Fibrillin-1 gene. Given the presence of fibrillin-1 microfibers in the myocardium, myocardial dysfunction and associated arrhythmia are conceivable and have been shown to contribute to morbidity and mortality in patients with Marfan syndrome. In this review, we will discuss data on myocardial disease from human studies as well as insights obtained from the study of mouse models of Marfan syndrome. We will elaborate on the various phenotypic presentations in childhood and in adults and on the topic of arrhythmia. We will also briefly discuss the limited data available on other genetic forms of aortic disease.

【 授权许可】

CC BY