Medical management of aortic disease in Marfan syndrome

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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Concurrent End-Stage Cardiomyopathy and Aortic Disease in Patients with Marfan Syndrome: A Case Report and Literature Review

10.22541/au.162266144.45379601/v1 ◽

2021 ◽

Author(s):

Timothy Smith ◽

Jose Sleiman ◽

Nikita Zadneulitca ◽

Cedric Sheffield ◽

Viviana Navas ◽

...

Keyword(s):

Heart Failure ◽

Case Report ◽

Literature Review ◽

Marfan Syndrome ◽

Aortic Disease ◽

Connective Tissue Disorder ◽

Orthotopic Heart Transplantation ◽

Bentall Procedure ◽

Life Saving ◽

End Stage

Abstract Background: Marfan syndrome (MFS) is a connective tissue disorder that can lead to aortic disease, arrhythmias and heart failure. Many centers are reluctant to offer orthotopic heart transplantation (OHT) for patients with MFS with concurrent aortic disease due to complexity of the surgery and perceived inferior results when compared to patients without MFS. Methods: We present a case of a patient with MFS with previous Bentall procedure who underwent successful OHT, accompanied by a literature review on OHT performed for patients with MFS. Results and Conclusions: Patients with MFS who underwent OHT had no difference in mortality compared to patients without MFS. Even though OHT is technically more challenging when combined with concurrent intervention for aortic disease, it should be considered as a life-saving operation for patients with MFS.

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Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO

IBJ Plus ◽

10.24217/2531-0151.21v1s4.00036 ◽

2021 ◽

Author(s):

◽

Andrea de la Fuente-Alonso ◽

...

Keyword(s):

Marfan Syndrome ◽

Aortic Disease

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Genetics of vascular disease: Marfan syndrome and aortic disease

ESC CardioMed ◽

10.1093/med/9780198784906.003.0160 ◽

2018 ◽

pp. 713-715

Author(s):

Dorien Schepers ◽

Bart Loeys

Keyword(s):

Extracellular Matrix ◽

Marfan Syndrome ◽

Transforming Growth Factor Beta ◽

Matrix Protein ◽

Transforming Growth Factor ◽

Aortic Disease ◽

Extracellular Matrix Protein ◽

Genetic Defects ◽

Fibrillin 1 ◽

Growth Factor Beta

Marfan syndrome is an autosomal dominant, multisystemic disorder, presenting with skeletal, ocular, and cardiovascular symptoms. This connective tissue disease is caused by mutations in FBN1, encoding fibrillin-1, which is an important extracellular matrix protein. Marfan syndrome shows significant clinical overlap with Loeys–Dietz syndrome, which is caused by genetic defects in components of the transforming growth factor-beta pathway: TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, and SMAD3. Overlapping clinical features between Marfan syndrome and Loeys–Dietz syndrome include aortic root aneurysm, arachnodactyly, scoliosis, and pectus deformity.

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