The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syn...

The excision and replacement of a failed aortic valve bioprosthesis in a composite tubular graft in two patients with Marfan syndrome was accomplished without replacing the composite graft.

Összefoglaló. Bevezetés: A Marfan-szindróma autoszomális domináns módon örökl?d?, szisztémás köt?szöveti betegség. hosszú távú túlélés szempontjából fontos a nagyérkatasztrófák megel?zése. Szívsebészeti szempontból legfontosabb elváltozás az aortagyök tágulata. Aortagyök-rekonstrukciós beavatkozásaink Bentall–DeBono-, David I. és módosított Yacoub-m?tétek, melyek mind preventív jelleggel, disse...

Amongst the inherited abnormalities of connective tissue, Marfan syndrome continues to command particular attention, not least because of the realization that these individuals are best managed, long-term, in a specialist tertiary referral centre at which facilities for the monitoring of cardiac function and the size of the aortic diameter exist. Surgical repair is available if the aortic root ...

Objective: To evaluate the results of two operations, aortic valve-sparing and aortic root replacement, in patients with aortic root aneurysm and the Marfan syndrome. Methods: A retrospective review of 78 consecutive patients with aortic root aneurysm and the Marfan syndrome according to the Gent criteria indicated that 42 patients with normal aortic cusps had an aortic valve-sparing operation,...

BACKGROUND Mild biventricular dysfunction is often present in patients with Marfan syndrome. Losartan has been shown to reduce aortic dilatation in patients with Marfan syndrome. This study assesses the effect of losartan on ventricular volume and function in genetically classified subgroups of asymptomatic Marfan patients without significant valvular regurgitation. METHODS In this predefined...

KORESPONDENCIJA / CORRESPONDENCE Authors report the case of a 59-year old woman with bilateral posterior lens luxation in vitreous, medically controlled glaucoma and corneal adherent leucoma with vascularization in whom Marfan syndrome was diagnosed. e patient underwent complete clinical eye and systemic examinations and blood samples were drawn for mutational screening of €brillin1 gene (FBN1...

The last decade has seen major progress towards understanding both the genetic defect and molecular pathogenesis of many monogenic disorders of the cardiovascular system including hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS) and Marfan syndrome (Table 1)1. Unlike the single gene disorders, however, the genetics of common diseases such as essential hypertension and coronary artery ...

BACKGROUND Data on outcomes after Stanford type A aortic dissection in patients with Marfan syndrome are limited. We investigated the primary surgery and long-term results in patients with Marfan syndrome who suffered aortic dissection. METHODS AND RESULTS Among 1324 consecutive patients with aortic dissection type A, 74 with Marfan syndrome (58% men; median age, 37 years [first and third qua...