2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology,American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Soci

Journal of the American College of Cardiology (Impact Factor: 16.5). 04/2010; 55(14):e27-e129. DOI: 10.1016/j.jacc.2010.02.015
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    • "The prevalence of MFS in the general US and European population has been estimated to be 1:5,000 [1,2]. MFS has a high penetrance, but variable expression [3]. Cardiovascular complications are the main cause of premature death among MFS patients [4,5]. "
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    ABSTRACT: Background Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable as many of the original studies used low number of controls. To study whether there are possible false-positive variants associated with MFS, four in silico prediction tools (SIFT, Polyphen-2, Grantham score, and conservation across species) were used to predict the pathogenicity of these variant. Results Twenty-three out of 891 previously MFS-associated variants were identified in the ESP. These variants were distributed on 100 heterozygote carriers in 6494 screened individuals. This corresponds to a genotype prevalence of 1:65 for MFS. Using a more conservative approach (cutoff value of >2 carriers in the EPS), 10 variants affected a total of 82 individuals. This gives a genotype prevalence of 1:79 (82:6494) in the ESP. A significantly higher frequency of MFS-associated variants not present in the ESP were predicted to be pathogenic with the agreement of ≥3 prediction tools, compared to the variants present in the ESP (p = 3.5 × 10−15). Conclusions This study showed a higher genotype prevalence of MFS than expected from the phenotype prevalence in the general population. The high genotype prevalence suggests that these variants are not the monogenic cause of MFS. Therefore, caution should be taken with regard to disease stratification based on these previously reported MFS-associated variants.
    BMC Genetics 06/2014; 15(1):74. DOI:10.1186/1471-2156-15-74 · 2.40 Impact Factor
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    • "Recently , Biner et al. have shown that 32% of FDRs of BAV patients have dilated aorta [6]. Based on these data, guidelines recommend as class IC, echocardiographic evaluation of all FDR of patients with BAV in search of aortic dilatation and/or BAV [2]. In Biner et al.'s study, BAV patients from whom FDRs were contacted had normal and pathological aorta. "

    International journal of cardiology 01/2014; 172(2). DOI:10.1016/j.ijcard.2014.01.037 · 4.04 Impact Factor
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    • "The 2010 AHA guidelines recommend urgent and definitive imaging of the aorta using TEE, CT or MRI to identify or exclude thoracic aortic dissection in patients at high risk for the disease (IB) [7]. The aim is to confirm the diagnosis, differentiate true and false lumens, localize intimal tears and dissection extent, distinguish communicating and non-communicating dissections, assess branch involvement, detect and grade aortic regurgitation and detect extravasation. "
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    ABSTRACT: Thoracic aortic aneurysm is often an asymptomatic but potentially lethal disease if its most catastrophic complication - aortic dissection - occurs. Thoracic aortic dissection is associated with a high mortality rate despite ongoing improvement in its management. We report a fatal outcome of thoracic aortic aneurysm in a male patient with bicuspid aortic valve. The patient was qualified for elective surgery of the ascending aorta and aortic valve at the age of 39 but he did not agree to undergo the proposed procedure. Three years later, he experienced acute aortic dissection and died despite a prompt diagnosis and complex management.
    Postepy w Kardiologii Interwencyjnej / Advances in Interventional Cardiology 09/2013; 9(3):265-71. DOI:10.5114/pwki.2013.37507 · 0.15 Impact Factor
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