Through the lens of expertise, rare disorders Marfan and Loeys-Dietz syndromes, come into focus. Our remote all-day conference, featured a wide array of specialist speakers covering the many manifestations of these conditions. From practical tips on managing fatigue to the latest clinical updates on treatment for the eyes, aorta, chest, and more, this event is a one-stop resource for patients and families alike. Here are the videos from the day:
Pectus Problems
Mr Joel Dunning is a consultant Thoracic Surgeon at James Cook Hospital with a special interest in minimally invasive repair of pectus excavatum and is chief investigator of the RESTORE trial that aims to prove the benefit of this operation.
Mr Dunning played an instrumental role in restoring NHS England funding for pectus excavatum surgery. During his fantastic and fantastically extensive talk on Saturday, 11 October, he discussed pectus conditions, current treatment options, and the ongoing advocacy behind them.
Useful Links Mentioned During Mr Dunning's Talk:
We have a new publication from all the Key societies in the UK who have unified to produce this best practice guideline which your doctor should be aware of and you should read: https://academic.oup.com/ejcts/article/66/1/ezae166/7706289
At my hospital you can see me initially on the NHS for free with a letter from your GP. It is important that you show your GP this press release.
https://scts.org/news/560/new_nhs_england_commissioned_pathway_for_pectus_deformities/
The Ocular Manifestations of Marfan Syndrome
A consultant Ophthalmic Surgeon, Mr Masood trained at the prestigious Moorfields Eye Hospital in London and was awarded the Fellowship of the Royal College of Ophthalmologists. He is now the director of both the Glaucoma Service at the Birmingham and Midland Eye Centre and the Birmingham Institute of Glaucoma Research, and holds the positions of Honorary Senior Clinical Lecturer and Honorary Consultant Ophthalmologist at the University of Birmingham. On Saturday, 11 October Mr Masood discussed the ocular manifestations of Marfan syndrome, in particular lens problems.
Musculoskeletal Health in Marfan & Loeys-Dietz Syndromes
A consultant Rheumatologist at University College London Hospitals (UCLH) NHS Foundation Trust, Dr Hanadi Kazkaz has a special interest in heritable connective tissue conditions and osteoporosis. She trained at St George's Hospital and has long been an invaluable advisor to our Trust. In this presentation, Dr Kazkaz gives a comprehensive exploration of the musculoskeletal manifestations of Marfan and Loeys-Dietz syndromes while offering practical guidance for their management, Dr Kazkaz’s webinar is a one-stop resource for musculoskeletal health.
Fatigue Management with Marfan & Loeys-Dietz Syndromes
As an occupational therapist with Marfan syndrome, Natasha Woodgate is uniquely positioned to offer insightful tips and help for people with the condition. In this video, Natasha offers a wealth of information on how to manage fatigue in everyday life, at work and school.
The Increasingly Personalised Treatment of the Aorta
With a tantalising glimpse into the future and a lens on today’s treatments and imaging, Professor Christoph Nienaber explores the evolving management of the aorta, the body’s 27th organ. From open to non-invasive surgeries and the emerging role of stress mapping, discover how innovation is reshaping our increasingly personalised care. Time is Life - Watch Now.
Science in the Sonalee Laboratory
At the cutting edge of genetics, Dr Aragon-Martin offers a rare glimpse into the future of treatment for Marfan and Loeys-Dietz syndromes, sharing his pioneering work on gene therapy and gene changes. With his MSc students Archana, Chandana & Jessica, Jose presents new findings on possible gene modifiers and structural variants, neonatal Marfan fine mapping, and deep genotype-phenotype correlations in Marfan syndrome – advancing our understanding of the complex genetic landscape underlying connective tissue disorders.
Fatigue & Pain with Marfan & Loeys-Dietz Syndromes: Preliminary Results of Nationwide Questionnaire
Determined to discover more about fatigue, its intertwining relationship with pain, and its impact in Marfan and Loeys-Dietz syndromes, Dr Anne Child and medical student Kannan Maheswaran distributed a questionnaire over the summer. Here they present the preliminary results alongside case histories:
