Support and resources for patients with aortic disease

Introduction

Support groups and online communities can be invaluable for patients. Support organizations facilitate their members by sharing valuable social and emotional support, advice, and resources. ¹ They also work to disseminate research opportunities and the newest management guidelines to both patients and physicians. Directing patients to support organizations helps them become empowered advocates and partners in their healthcare. However, patients should be advised that every patient’s medical experience and social situation are unique and, thus, the patient stories they encounter do not predict their own future outcomes.

In this edition of the SVM Communication pages, we highlight resources, advocacy, and awareness initiatives that can be shared with patients with aortic disease (i.e., aortic aneurysm and aortic dissection) to supplement education received from the medical team and to reduce feelings of isolation.

Patients will do their own research, so guiding them towards reputable support organizations can build trust in the physician–patient relationship. ² Support organizations with medical and administrative oversight (typically a professional or medical advisory board that reviews education, answers questions, and reviews research proposals), helps to minimize exposure to anecdotal and false information. ³ As well, within these communities, it is advised that patients discuss specific medical plans and questions with their own care providers to develop a safe and personalized plan of care.

Support organizations for patients with aortic disease

In 1980, Dr Reed Pyeritz, along with other healthcare professionals, met with patients and families in Baltimore for the first peer support meeting for people impacted by Marfan syndrome. ⁴ Dr Pyeritz’s early research focused on Marfan syndrome and improving medical care, including leading the first trial that demonstrated the benefit of using beta-adrenergic blockers, and documenting the natural and clinical history of Marfan syndrome, which showed that by 2010 the average lifespan improved to over 70 years. ⁵ Over the 40 years that have passed since these early efforts, opportunities have increased dramatically for patients with aortic disease to find information and support.

Select advocacy organizations for aortic conditions and an outline of their services are listed in Table 1. This is not a comprehensive list as aortic disease can be associated with many other syndromic conditions (such as Turner syndrome) or more common congenital heart disease (e.g., bicuspid aortic valve).

Table 1.

Select support organizations for aortic disease.

	Marfan Foundation	Genetic Aortic Disorders Association Canada (GADA)	Marfan Trust	The John Ritter Foundation for Aortic Health	Aortic Dissection Awareness / THINK AORTA	The Aortic Dissection Charitable Trust
Divisions	vEDS movement, LDS Foundation, and GenTAC Alliance	Covers all genetic aortic disorders; Montalcino Aortic Consortium	LDS division in development	N/A	AD Buddies patient and family support; THINK AORTA campaign	N/A
Website	www.marfan.org www.thevedsmovement.org www.loeysdietz.org	www.gadacanada.ca www.montalcinoaorticconsortium.org	www.marfantrust.org	www.johnritterfoundation.org	www.aorticdissectionawareness.org www.thinkaorta.net	www.aorticdissectioncharitabletrust.org
Contact	800.8.MARFAN brandcomms@marfan. org	[e-mail]	[e-mail]	1-213-218-3329	[e-mail] [e-mail]	[e-mail]
Country of origin	USA	Canada	UK	USA	UK and Ireland	UK and Ireland
Year founded	1981	1986	1988	2003	2016	2020
Medical advisory board review of content	Yes	Yes	Yes	Yes	Yes	Yes
Clinic directory online	Yes	Yes	Yes	No	Yes	No
Medical staff	Yes	No	Yes	No	Yes	Yes
Educational, advocacy, and support programs	- In person (national and local) and virtual; scholarships available - Monthly specialty subgroups - Local patient-driven ‘Walks for Victory’ - Partners with local hospitals for symposiums - Child/teen support groups with camps and monthly game night	- In person (national and local) and virtual - Patient 1-to-1 support - Quarterly virtual meet-ups	- In person (national, regional, and local) and virtual - Annual Marfan Information Day - Nationwide peer support network with 1-to-1 peer support and 1-on-1 with nurse specialist - Two monthly drop-ins, one general, the other specifically for parents - Quarterly webinar discussing topical issues from pain and GI to pregnancy - Teen time in development	- In person (national and local) and virtual - Aorta Advocates: 1-on-1 peer support program - Local patient-driven events - Partners with local hospitals for symposiums	- In person (national and local) and virtual - AD Awareness Day UK and Ireland - AD Buddies peer support available 24-7 online, with in-person meet-ups - Annual conference with patient bursaries - AD Patient Days in specialist aortic hospitals	- In person (national and local) and virtual - Aortic Dissection Awareness Day (Sept 19) - Live online chat and 1-on-1 peer support - Local hospital education events for patients and providers
Research funding	Currently funding 22 research grants in the amount of US$2.3 million as of Dec 2023, including the Everest Grant, a large, multiinstitutional transformational grant that funds a research team over 4 years	GADA awarded CA$1.2 million for research over the last 3 years	No direct research funding	US$350,000 in research in 2022–2023, including yearly clinical research grants and funded genetic research through the John Ritter Research Program	No direct research funding UK Department of Health allocated £50 million to new AD research as a result of the charity agreeing a national set of patient-centered research priorities	Various amounts, pump-priming grants awarded annually
Languages served	- English - Spanish - 25 languages on website	- English - French	- English - Croatian	- English - Spanish - Multiple languages on website	- English - Spanish - Portuguese - Chinese - Malay	- English
International reach	Coordination of International Research meeting for clinicians and researchers; expansion of services globally; full-time Chief Global Business Development position	Montalcino Aortic Consortium, an international group of prominent clinical investigators from academic medical centers around the world committed to diagnosing and managing aortic disorders	Medical helpline has a global reach	Serves patients and families worldwide – specific Australia and New Zealand resources available	THINK AORTA diagnostic strategy and campaign is currently implemented on five continents	International collaborations

AD, aortic dissection; GADA, previously The Canadian Marfan Association; GI, gastrointestinal; LDS, Loeys–Dietz syndrome; N/A, not applicable; vEDS, vascular Ehlers–Danlos syndrome.

Individual institutions, cardiac rehabilitation programs, or local groups may also have specific aortic disease support groups. These allow for local connections and/or peer referrals to local experts. One example is the Mended Hearts program (www.mendedhearts.org), which is not specific to aortic disease, but offers support, education, and programing for individuals with all types of heart disease, including congenital heart disease.

Clinical research initiatives

Many support organizations have opportunities for patients to enroll in surveys, genetic studies, or other clinical research trials. Additionally, there are several registries that collect patient data for research purposes (Table 2). These research initiatives are geared towards understanding the natural history of these conditions and/or identification of new genes associated with aortopathy.

Table 2.

Clinical research initiatives for patients with aortopathies.

	International Registry of Acute Aortic Dissection (IRAD)	John Ritter Research Program in Aortic and Vascular Diseases	Montalcino Aortic Consortium	Vascular Ehlers–Danlos Syndrome (vEDS) Collaborative/Natural History Study	Collaborative for Longitudinal Aortic Research in the Young (CLARITY)
Country of origin	USA	USA	Canada	USA	USA
Year established	1996	2010	2013	2017	2021
Website	www.iradonline.org	https://med.uth.edu/internalmedicine/medical-genetics/john-ritter-research-program/	www.montalcinoaorticconsortium.org	www.thevedsmovement.org/research/veds-collaborative	www.clarityregistry.com
Contact	See website	[e-mail]	[e-mail]	[e-mail]	See website
Enrollment	Participating sites	Individuals can enroll	Participating sites	Individuals can enroll	Participating sites or individuals can enroll
Inclusion criteria	Aortic dissection	Individuals or families with aortic aneurysm or dissection	TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, FBN1	Molecularly confirmed COL3A1 variant for vEDS	Birth to 30 years with conditions associated with aortic and arterial disease

Other educational resources

Individuals with aortic aneurysms, aortic dissections, and those at risk, including those with genetic aortopathies such as Marfan, Loeys–Dietz, and vascular Ehlers–Danlos syndrome, often experience diverse emotional reactions due to their health status. Studies have reported that up to about one-third of patients experience isolation, anxiety, depression, and posttraumatic stress disorder during their journey with aortic disease.^6,7

In 2023, the John Ritter Foundation for Aortic Health supported the development of an educational resource addressing mental health topics entitled Life with Aortic Disease: Caring for Your Mental Health. ⁸ This electronic publication has been professionally and patient-reviewed and is an important resource to help patients feel validated in their feelings, avoid feelings of isolation, and help them access mental health support if they need it. In addition, the John Ritter Rules were created to educate on how to recognize, treat, and prevent thoracic aortic dissection.

The Aortic Dissection Charitable Trust has developed Could It Be Aortic Dissection?, which is an online tool for individuals seeking to better understand acute aortic dissection. Subtitles can be chosen in French, Dutch, Italian, Spanish, and Portuguese.

Another new resource in 2023 is Aortic Dissection: The Patient Guide, ⁹ which covers what patients and families need to know. This online publication includes topics geared toward the early days, returning home, and information for family and caregivers.

The Vascular Disease Patient Information Page is a regular feature of Vascular Medicine. All articles in this collection are available online for free. The Patient Pages provide up-to-date and concise information for patients and cover a variety of cardiovascular health issues, including factsheets on aortic aneurysm and dissection and genetic testing.^7,10–12

Advocacy campaigns

Advocacy campaigns are another way to support patients with aortic disease. Healthcare institutions and providers can engage with advocacy campaigns to help increase awareness and provide support for other caregivers as well as patients and their families. Several organizations have focused campaigns throughout the year.

American Heart Month is every February, organized by the National Heart, Lung, and Blood Institute. Many local hospitals have educational or other awareness events throughout the month, including National Wear Red Day on the first Friday of February.

Think Aorta is a global campaign focused on the problem of misdiagnosis and delay in acute aortic dissection, founded by Aortic Dissection Awareness UK & Ireland, and endorsed by several professional medical organizations. Think Aorta provides free, accredited learning resources for emergency medicine physicians, radiologists, and first responders to improve their ability to spot a time-critical, life-threatening aortic dissection and take appropriate action. They also provide free printable pamphlets and posters to distribute to local medical institutions.

Aortic Dissection Awareness Day is September 19th each year, led by the Aortic Dissection Charitable Trust. The objective is to raise awareness about aortic dissection across the globe.

Summary

Support organizations are valuable resources, providing community, education, and research opportunities to pa-tients. By referring patients to appropriate, vetted reso-urces, they can access mental health resources and peer advice to reduce isolation. They can also access education to empower themselves to become more active participants and advocates in their healthcare. The support organizations and other initiatives outlined here can serve as powerful tools to both patients and providers in the aortic disease space.