Key result
Myocardial disease, including intrinsic cardiomyopathy and ventricular arrhythmia, is a clinically relevant manifestation in patients with Marfan syndrome and other genetic aortic diseases.
Why the study?
In genetic aortic diseases such as Marfan syndrome, myocardial dysfunction and associated arrhythmia contribute to morbidity and mortality, warranting review of myocardial involvement across human and animal studies.
This review highlights that intrinsic cardiomyopathy and arrhythmias are significant clinical manifestations in Marfan syndrome, requiring careful evaluation and management beyond the traditional focus on aortic disease.
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.
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Mosquera et al. (2021) conducted a review in Genetic Aortic Diseases (Marfan syndrome and Heritable Thoracic Aortic Diseases). Myocardial disease, including intrinsic cardiomyopathy and ventricular arrhythmia, is a clinically relevant manifestation in patients with Marfan syndrome and other genetic aortic diseases.
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