Pills of Knowledge (PoK)

This book is dedicated to children with Marfan syndrome and to all children who are different.

This PoK video gives an overview of genetic counseling in HTAD. Heritable Thoracic Aortic Disease is first briefly explained, followed by the how, why and where of genetic testing. Genetic counseling and its limitations are then explained in detail.

This PoK video gives an overview of acute aortic syndrome (AAS), a term which includes aortic dissection (accounting for 80% if AAS cases), intramural hematoma (IMH; 15% of AAS cases), and penetrating aortic ulcer (5% of AAS cases). The methods for classification and diagnosis, the imaging techniques used as well as the types of surgery and medical treatments recommended for AAS are also detailed.

This PoK discusses chronic aortic dissection, including its diagnosis and management. The physical and psychological aspects to consider in patients who have experienced an aortic dissection are noted. The follow-up and possible complications after aortic dissection that can occur are also listed.

This PoK gives an overview of the anatomy of the aorta as well as the imaging techniques used to visualize the aorta. These techniques, used to monitor the aorta in HTAD patients, are detailed and their special features are given. A very good overview for anyone wishing to learn more about the imaging techniques used for the monitoring and follow-up of HTAD patients.

This PoK video presents the basics of surgical reconstruction of the aortic root. The aorta and its main complications are first briefly explained, followed by the guidelines used to indicate prophylactic surgery in HTAD patients. The two main surgical techniques – aortic root replacement (ARR) and valve sparing root replacement (VSRR) are then detailed.

This PoK video presented by Professor Jolien Roos-Hesselink and Dr. Yaso Emmanuel gives a comprehensive overview of the issues to consider for patients with HTAD considering pregnancy. The main considerations include risk of recurrence, risk of an aortic event (during pregnancy/delivery), risks to the foetus, risks of the medications used during pregnancy and risks of further progressive disease in the mother. Appropriate advice for each patient will need to be individualized, according to each patient’s circumstances and medical history, which is why HTAD patients should talk to their cardiologist when they are considering pregnancy.

This PoK video presents the seven signs of Marfan syndrome in a clear and understandeable manner. It can help anyone who suspects that they may have Marfan syndrome to assess their probability of having this rare disease, using a simple scoring system. This is not a tool for self-diagnosis, but if you have one or more of these signs you may wish to consider consulting with a Marfan syndrome specialist who will be able to give you more information and either confirm or rule out a diagnosis of Marfan syndrome.

This video, made by European Patient Advocacy Group (ePAG) members of VASCERN’s Heritable Thoracic Aortic Diseases Working Group, explains the role of patient advocates in the European Reference Networks.

Video in English. Subtitles available in 4 European languages (Dutch, English, French and Hungarian).

Created by Prof. Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This Pill of knowledge (PoK) talks about the group of vascular diseases known as Heritable Thoracic Aortic Diseases. Both syndromic and non-syndromic forms are described and the genetics of HTAD are also explored. It is suitable for healthcare professionals and anyone wishing to learn more about HTAD.

Video in English. Subtitles in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Created by Prof. Guillaume Jondeau (Cardiologue, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France).

This Pill of knowledge talks about how physical activity is beneficial for Marfan syndrome patients and the types of sports that are adapted for these patients and which to avoid. It is meant for patients and gives clear and simple explanations for why certain sports are well tolerated in Marfan patients and others are not.

Video in French. Subtitles available in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Created by Prof. Guillaume Jondeau (Cardiologist, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France) and Lise Murphy (European Patient Advocacy Group (ePAG) Patient Advocate Co-Chair for HTAD, Svenska Marfanföreningen, Sweden).

This Pill of Knowledge (PoK) features a conversation between a patient and doctor about the importance of physical activity and what exercise is suitable for patients with Marfan syndrome. It aims to encourage Marfan syndrome patients to participate in a suitable form of exercise 3 times a week. This message will be further shared via the 3 a week campaign.

Video in English subtitles available in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Marfan Syndrome -Diagnosis by HTAD-WG Chair Prof Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This PoK gives an overview of the diagnosis of Marfan syndrome with its main clinical manifestations and diagnostic criteria described. The genetics of this rare disease are also briefly outlined in a clear and comprehensible manner. This video is a great introduction to Marfan syndrome that is suitable for both the general public and the medical community.

Video in English. Subtitles available in 7 European languages (English, French, Dutch, German, Italian, Spanish and Hungarian).