Cardiovascular Reoperations in Marfan Syndrome

Erentuğ, Vedat; Polat, Adil; Bozbuğa, Nilgün; Polat, Ebru Bal; Erdoğan, Hasan; Kırali, Kaan; Güler, Mustafa; Akinci, Esat; Yakut, Cevat

doi:10.1111/j.1540-8191.2006.00276.x

Cited by 9 publications

(7 citation statements)

References 11 publications

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“…Re-operation in the Marfan patients is an important fact that should be kept in mind in planning the operation. As we have reported before, 2 about 20% of our patients had ≥1 re-operations due to dilatations in the other segments of the aorta or mitral valve problems. Second, the follow-up data of the 20 patients are unclear.…”

supporting

confidence: 68%

“…In order to take advantage of refraining from the use of anticoagulation, is it wise to take the risk of an aortic dissection in this segment? We have used similar external support for an abdominal aneurysm in one of our patients in a re-operation 2 in order to decrease the operation risk. However, a young population like this mandates a more definitive treatment in our point of view.…”

mentioning

confidence: 99%

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External aortic root support for Marfan syndrome

Polat

Erentuğ

2010

J R Soc Med

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We have read the interesting article by Pepper and colleagues 1 about their experience on the external support of the aortic root in Marfan syndrome. This is a good contribution to the expanding literature about Marfan syndrome; however, there are few facts that should be clarified.First of all, 66 patients have been removed from the analysis for the comparison of the groups due to previous operations or re-operations. Why? Reoperation in the Marfan patients is an important fact that should be kept in mind in planning the operation. As we have reported before, 2 about 20% of our patients had R1 re-operations due to dilatations in the other segments of the aorta or mitral valve problems. Second, the follow-up data of the 20 patients are unclear. There is a figure of aortic dimensions but the time of the last postoperative examination from the time of the operation is unclear. In our report of the long-term results of the aortic root operations, Marfan syndrome was found to be associated with decreased long-term survival.3 Third, as the authors have stated, the aneurysm does not necessarily precedes aortic dissection in Marfan patients. That is why; the operation indication is lower than that of the normal population. 4 In order to take advantage of refraining from the use of anticoagulation, is it wise to take the risk of an aortic dissection in this segment? We have used similar external support for an abdominal aneurysm in one of our patients in a re-operation 2 in order to decrease the operation risk. However, a young population like this mandates a more definitive treatment in our point of view.We would like to thank the authors for their study and would like to hear their contributions to the discussion. Reply to Polat and colleaguesPolat and colleagues pose key questions about our study and the future of bespoke external aortic root support (EARS). The 66 patients excluded from analysis did not match prespecified criteria, namely a first-time, elective, aortic root operation, in the same time frame and setting. The 28 patients used for comparison had similar intraoperative myocardial ischaemic, cardiopulmonary bypass, and circulatory arrest exposure as 254 root replacements in Polat's experience. 1 We have shown that EARS obviates these potentially harmful, but necessary, surgical adjuncts to root replacement. 2Will EARS prevent aortic dissection within the supported segment? Our expectation is that it will reduce both the risk of dissection and, should it occur, the severity of its consequences. We have already shown that EARS holds the supported aortic segment at, or smaller than, its preoperative size.3 The dimensions across the three aortic sinuses were measured on duplicate magnetic resonance images of 37 non-operated Marfan patients and before and after (>1 year) images of the first 10 EARS patients. The 96 images were presented in random sequence to a radiologist blind to their identity and to the hypothesis. The stability of the external support, predicted from the characteristics of the material a...

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supporting

confidence: 68%

mentioning

confidence: 99%

External aortic root support for Marfan syndrome

Polat

Erentuğ

2010

J R Soc Med

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“…FBN1 mutations are thought to exert a dominant negative effect (Erentug et al, 2006). To date, more than 1000 of the mutations in this gene have been described, and these mutations are spread throughout the entire gene without a clear predilection for any given region (Boileau et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome

Yin¹,

Xh²,

Xh³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was performed on all subjects. All exons of FBN1 were amplified by polymerase chain reaction, sequenced, and the sequences were compared with a reference database. Variations were evaluated in family members as well as 100 normal controls. Changes in structure and function of the protein induced by amino acid variation were predicted by bioinformatic analysis. Ectopia lentis, dolichostenomelia, arachnodactyly, and tall stature were present in all patients diagnosed with MFS. The novel heterozygous missense mutation c.2243 T>G (p.C781W) in exon 19 of FBN1 was identified in all 5 patients, but not in other family members or 100 normal controls. This mutation caused an amino acid substitution of cysteine to tryptophan at position 781 (p.C781W) of the FBN1 protein. This mutation occurred in a highly conserved region and may cause structural and functional changes in the protein according to our bioinformatic analysis. Our results suggest that the novel mutation C781W of FBN1 is responsible for the pathogenesis of MFS in this pedigree.

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“…Fehrenbacher et al [3] reviewed 343 patients in their center undergoing TAAA repair or descending aortic aneurysm repair and report the 1, 5, and 10-year survival rates were 90%, 69%, and 54%, respectively [2]. Kouchokos et al [56] looked at survival following TAAA using hypothermic circulatory arrest in 243 patients between 1986 and 2012.…”

Section: Long Termmentioning

confidence: 99%

“…Certain genetic conditions, particularly those affecting connective tissue, predispose patients to development of thoracic aortic aneurysms, infamously Marfan syndrome. Pertaining to Marfan, it is well documented that these patients are not only susceptible to the development of thoracic aortic disease but are at a significantly higher risk of reoperation following surgery that is not seen in patients suffering from aneurysms of the degenerative type [2]. There is a vast array of genetic diseases that have be attributed to the development of TAAs other than Marfan syndrome.…”

Section: Introductionmentioning

confidence: 99%