Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease

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From: Future Cardiology(Vol. 7, Issue 4)
Publisher: Future Medicine Ltd.
Document Type: Report
Length: 7,333 words
Lexile Measure: 1490L

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Author(s): Florian S Schoenhoff 1 , Duke E Cameron 2 , Gabor Matyas 3 , Thierry P Carrel [[dagger]â ] 4

Keywords

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aortic aneurysm; aortic surgery; connective tissue disorders; Marfan syndrome

"âThere is no disease more conducive to clinical humility than aneurysm of the aorta."â

- Sir William Osler

Marfan syndrome (MFS; MIM #154700) is one of the most common inherited connective tissue disorders affecting about 0.02% of the population [1] . MFS is an autosomal dominant disorder with a wide range of clinical manifestations affecting nearly all organ systems. MFS is an inherited disorder with a 50% risk of passing it on to one'âs children, 15-30% of patients have de novo mutations [2] . In 1991, it was shown that the classic MFS phenotype is associated with mutations involving the fibrillin-1 (FBN1 ; MIM *134797) gene [3] . Fibrillin-1 protein is an important component of both elastic and nonelastic connective tissues. It is the main protein of a group of connective tissue microfibrils that are essential to normal elastic fibrillogenesis and maintenance.

Although MFS can present with a wide variety of symptoms, aneurysmal dilation of the aortic root and consecutive acute aortic dissection is the leading cause of death in this patient population. To this day, emergency aortic root surgery is associated with a significantly worse outcome compared with an elective approach [4] . In a multi-institutional series of 675 MFS patients 30-day mortality for elective repair, urgent repair or emergency repair was 1.5, 2.6 and 11.7%, respectively [5] . Until recently, careful monitoring and an early invasive strategy such as complete surgical replacement of the affected aorta was the only possibility to treat MFS.

Indications for surgery

Aortic root disease is the hallmark of MFS and in the absence of aortic regurgitation, indications for surgery in patients with MFS mainly follow established guidelines, such as the 2010 AHA guidelines [6] , in which surgical repair in adults is recommended at an external diameter of 50 mm. In patients with a family history of dissection at smaller diameters, symptomatic aneurysms or rapidly expanding aneurysm, intervention at a diameter of less than 50 mm is justified. Since 15% of patients with MFS dissect at diameters of less than 50 mm [7,8] , our groups tend to be more aggressive in patients with MFS and considers aortic root diameter of 45 mm or progress of more than 5 mm per year as an indication for surgery. If aortic regurgitation is present and aortic root size is less than 45 mm, indication for surgery depends on the extent of regurgitation and hence left ventricular dimensions. Since shorter patients have a higher risk of dissection at smaller diameters, the cross-sectional area in square centimeter divided by the patient'âs height in meters can be used as an indicator for the need for surgery. If this ratio exceeds 10, surgery should be recommended. In women with MFS who want to become pregnant, it is reasonable to consider prophylactic root replacement if aortic root size exceeds 40 mm. Regarding the aortic arch and descending aorta, repair is recommended for...

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Gale Document Number: GALE|A262700051