Medical Management of Marfan Syndrome

Anesthesia Management of a Thoracoabdominal Aortic Aneurysms in Marfan Syndrome

“…Prognatizm ve yüksek damak nedeniyle güç entübas-yona hazırlıklı olunması gerektiği, temporomandibular eklem ve diğer eklemlerin dislokasyon riski nedeniyle işlemlerin dikkatli ve nazik yapılması gerektiği bildirilmiştir (4,5) . Yeniaras ve ark.…”

“…Spontan ve pozitif basınçlı ventilasyon sı-rasında pnömotoraks izlenebilir (4,6) . Bu nedenle tek akciğer ventilasyonu gerektiren operasyonlarda, akciğer tutulumu daha fazla önem kazanmaktadır.…”

Differential approach to planning of training loads in person with connective tissue dysplasia symptoms

“…В літературі зустрічаються поодинокі публікації щодо можливості настання РСС при окремих нозологі-ях, таких як синдром Марфана [11,12] та ПМК [11,13,14]. Нажаль більшість дослідників та спортивних ліка-рів рідко враховують об'єктивні дані щодо змін у стані серця та кардіогемодинамічних зрушень під час на-вантажень різної потужності, особливо у спортсменів з ДСТ.…”

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

“…Indication of drug therapy or replacement of dilated aortic segments is similar in patients diagnosed with Marfan syndrome with or without identification of the molecular FBN1 defect. 27 Indeed, as the mutation detection rate is not 100% and the availability of FBN1 screening is different from country to country, appropriate treatment should be prescribed for all patients with a clinical diagnosis of MFS. As the presence of a mutation in the FBN1 gene is a major criterion of the international nosology, the genetic result may lead to diagnosis of Marfan syndrome that could have consequences in terms of regular cardiological follow-up, and prescription of drug therapy for preventing or limiting aortic dilatation.…”

“…10,32 All cases should be integrated in a multidisciplinary clinic. Preventive medical treatment for aortic dilatation are recommended in patients with the clinical diagnosis of MFS and patients with an FBN1 mutation, even in the absence of aortic manifestations, 10,27 but attitudes could vary between countries through Europe. Indeed, some teams propose to install medical therapy only when regular echocardiograms do demonstrate some definite progressive involvement, arguing that some families with ocular and skeletal manifestations only do not demonstrate cardiac involvement.…”