The Marfan Forum Shop

marfan forum shopFor anybody who didn’t know We have a Marfan Forum merchandise shop, filled with lots of items for sale.  We have T-shirts, mugs, caps, badges and lots more.

There are a few different designs, so have a good look around.

I have just also added merchandise for this site too.

All profits go to the Marfan Trust.marfan forum shop at cafepress

The shop is hosted on the Cafepress website, so You can be assured of quality items.

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Julie’s “invisible” Ehlers-Danlos syndrome pain

Ehlers-Danlos syndrome, or EDS for short.Julie Robertshaw spent her early years as a gymnast with incredible potential, excelling in her talent.

But after being struck with unexplained pains in her late teens, her extraordinary flexibility revealed itself be a curse, not a blessing.

Now 44, she suffers from a rare condition called Ehlers-Danlos syndrome, or EDS for short.

Full Story: http://www.clactonandfrintongazette.co.uk/news/10569263.Julie_s__invisible__pain/

To sign the petition, visit http://epetitions.direct.gov.uk/petitions/43368

The Marfan Forums Android App

Android marfan forum appThe Marfan Forum has an Android app available for download on Google Play. The app includes links to all Our websites and services, including TwitterFacebook, the Forum and of course this site.

The App also includes links to the Marfan Trust, various fundraising pages including Ebay and Cafe press.

Also in addition the app includes links to some of the best Marfan Syndrome, LDS – Loeys-Dietz, EDS – Ehlers-Danlos syndrome & Hypermobility Syndrome sites and Facebook groups from around the world.

marfan forum on google play

Aortic Dissection During Pregnancy

Abstract

marfan syndrome uk logo Aortic dissection (AoD) during pregnancy is a rare but lethal condition and highlights the need for extensive elucidation. The aim of this study is to reveal the risk factors for AoD during pregnancy and to compare the 2 main risk factors, Marfan syndrome and pregnancy itself in the previously healthy woman. The pregnant patients developed AoD at 31.7 ± 7.6 weeks of gestation. It occurred much earlier in the Marfan patients than in the previously healthy women (30.7 ± 8.6 weeks of gestation vs 34.4 ± 4.4 weeks of gestation, P = 0.0263). In the Marfan patients, AoD developed in 3 (3.2%), 15 (15.8%), and 43 (46.3%) patients in the 3 trimesters, respectively, compared with 31 of the previously healthy women, and only in the third trimester. The neonates of the Marfan patients had better Apgar scores at 1 and 5 minutes, lower intubation rates, and fewer stays in the neonatal intensive care unit than those of the previously healthy women. Marfan syndrome and pregnancy itself in the previously healthy woman were the 2 main risk factors responsible for the occurrence of AoD during pregnancy. Marfan patients may develop AoD at an early age and an early stage of pregnancy, probably due to the preexisting weakened aortic wall. Better outcomes for the surviving neonates of Marfan patients compared with neonates of the previously healthy women might be the result of the poor condition of Marfan patients causing a higher death rate for those fetuses.

Introduction

Aortic dissection (AoD) during pregnancy is rare and life-threatening for both mother and fetus.[1] In Sweden it was estimated that the incidence of AoD was 14.5/1 000 000 in pregnant women vs 1.24/1 000 000 among nonpregnant women.[2] However, according to the International Registry of Acute Aortic Dissections, being in the peripartum period of pregnancy confers a risk for AoD of 0.2%.[3] Aortic dissection typically occurs in the third trimester of pregnancy or during the early postpartum period.[4] Aortic dissections often develop among individuals with connective-tissue disorders associated with abnormalities of the aortic wall, such as those present in familial thoracic aortic aneurysm/dissection, Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and bicuspid aortic valve disease or Turner syndrome.[5] The majority of patients with Turner syndrome have aortic dilation with associated cardiovascular anomalies such as a bicuspid aortic valve, coarctation of the aorta, or systemic hypertension, which place the patients at higher risk of AoD. This is the case in particular when women with Turner syndrome, who are generally infertile because the condition is associated with premature ovarian failure, become pregnant through assisted reproductive technology.[6] Histologic findings are similar to the classic cystic medial necrosis among young patients with sporadic AoD and suggest an underlying genetic defect of connective tissue, resulting in dissection at an early age in such patients.[7] The risk of dissection is 5× to 18× higher in the presence of a bicuspid aortic valve compared with the tricuspid aortic valve, and pathology of the dilated aorta in the presence of a bicuspid aortic valve was similar to that of Marfan patients.[7] Parai et al[8] demonstrated significantly less elastic tissue in the aorta of bicuspid aortic valve patients. Women with aortic-root diameter >40 mm, rapid dilation of aortic dimensions, and/or previous dissection of the ascending aorta are at an increased risk of AoD during pregnancy.[9] In addition, the risks of complicated AoD may be increased in parturients in the presence of familial thoracic aortic aneurysm, bicuspid aortic valve, coarctation of the aorta, hypertension, and drug abuse.[10] However, the clinical characteristics of AoD during pregnancy have not been widely elaborated and the relationship between pregnancy and the risk factors for AoD remains insufficiently unexplained so far. This study aims to assess risk factors responsible for the development of acute AoD during pregnancy, comparing the 2 main underlying risk factors and discussing management controversies based on literature analyses.

Full Article: http://onlinelibrary.wiley.com/doi/10.1002/clc.22165/full

Results of Modern Mitral Valve Repair in Patients with Marfan Syndrome.

Abstract

marfan syndrome uk logo squareObjectives Mitral valve (MV) regurgitation is a common manifestation in patients with Marfan syndrome (MFS) and is age dependent. Valve pathology shares some features with myxomatous MV disease. Surgical treatment is still being debated and not well characterized in patients with MFS.Patients and Methods We retrospectively evaluated the results of mitral valve repair (MVR) of symptomatic patients with MFS who underwent surgery between January 2004 and April 2011. MFS was diagnosed following the Ghent criteria. MVR was performed in 12 patients. Three patients underwent minimally invasive MVR despite severe thorax deformities. Mean follow-up was 60.1 months (95% CI: 48-72) and was complete.Results Thirty-day mortality was 0%.

Full Article: http://www.ncbi.nlm.nih.gov/pubmed/23839872?dopt=Abstract

External aortic root support: a histological and mechanical study in sheep

Abstract

Objectives

marfan syndrome uk logo squarePersonalized external aortic root support has completed initial evaluation and has technology appraisal in the UK for patients with Marfan syndrome for use as an alternative to root replacement. Its long-term success in preventing aortic dissection remains uncertain. Here, we report a study in sheep to establish whether the externally supporting mesh, as used clinically, is biologically incorporated. The strength of the resulting mesh/artery composite has been tested.

Methods

The carotid artery of growing sheep (n = 6) was enclosed in a mesh sleeve made of a polymer, polyethylene terephthalate. After a predefined interval of 4–6 months, a length of the artery was excised, including the sleeved and unsleeved portions, and was stress tested and examined histologically.

Full Article: http://icvts.oxfordjournals.org/content/17/2/334.short?rss=1

Dad’s tragic death may save twin daughters’ lives

  • Tyson Wallis was just 30 years old when his heart ruptured
  • He had a rare genetic syndrome, and now his baby daughters are getting treatment for the same condition

LDS

Tyson Wallis had it all. Seemingly healthy at 30 years old, Tyson and his wife Kristin were deeply in love. After years of trying, they finally had the family they always wanted — twin baby girls, Olivia and Eleanor.

“He kept saying, ‘I finally have everything I’ve ever wanted,'” Kristin Wallis said. “It was just so perfect. It was really perfect.” But tragically, “perfect” couldn’t save Tyson from a silent killer — a killer he had been living with all of his life.

Ten months after their daughters were born, Tyson said goodbye to his wife as she rushed off to work. They said they loved each other, as always. Before Kristin even got to work, a frantic call sent her into a tailspin: Tyson had collapsed. He wasn’t breathing. His heart had ruptured, and within hours, he was dead. Within hours, the life he had worked so hard to achieve was gone.

“Out of the blue, my entire world fell apart,” Kristin says. “He didn’t have heartburn. He didn’t have heart or chest pains. He didn’t have anything. He was perfect. He was fine.”

Tyson Wallis had Loeys-Dietz Syndrome, a condition so rare that only a few hundred people have been diagnosed. For Tyson, his diagnosis came too late, but it may help save the lives of his daughters. The condition enlarges the aorta and tangles smaller blood vessels, weakening them and putting the sufferer at risk for a heart attack or stroke. It is also genetic, and after a few tests, it was determined that Olivia and Eleanor also have Loeys-Dietz Syndrome. Without the tragic discovery of their father’s condition, they may have never known.

Read on: http://www.hlntv.com/article/2012/06/29/dads-death-may-save-daughters-life-loeys-dietz-syndrome