In the 1970s, Dr. G. Michael Vincent led a team that studied and treated families with long QT syndrome (LQTS). Dr. Vincent’s team identified and expanded the family pedigrees of many of these LQTS patients. However, Dr. Vincent was dismayed by the number of young people with LQTS who went undiagnosed and untreated, and were therefore at risk of dying. Too few physicians were familiar with or tested for LQTS.
Through Dr. Vincent’s leadership, the SADS (Sudden Arrhythmia Death Syndromes) Foundation was established in May 1992 to address the unmet needs of supporting families and educating physicians. It has now been 25 years of delivering services that save the lives and support the families of children and young adults who are genetically predisposed to sudden death due to heart rhythm abnormalities. These services include:
- Prevention and Awareness - Increasing the general public’s knowledge of the warning signs that may identify the child or adult at risk for sudden cardiac death;
- Patient and Family Support - Providing information, resources, and counsel for families so that they may make informed medical decisions and live rewarding lives despite the challenges of SADS conditions;
- Medical Education - Facilitating early recognition, accurate diagnosis, and treatment of heart rhythm abnormalities by ensuring that health care professionals have all available current and relevant information;
- Research and Advocacy - Encouraging increased arrhythmia research and patient-centered outcomes that will improve the quality of life for individuals with heart rhythm abnormalities.
The SADS Foundation collaborates with medical professionals and gives the support that cannot be found at the same level through any other organization. For example, staff members help physicians by providing all-embracing support for patients through individual counseling, networking, and resources. A diagnosis of a SADS condition is not just stressful for the patient, but for the entire family. Staff members assist patients and their loved ones to become their own best advocate.
10th Annual International SADS Foundation Conference
One of the primary ways that the SADS Foundation brings together medical professionals and SADS families is through our Annual International SADS Foundation Conference. To date, ten conferences have been held in eight locations. This year’s conference was cohosted by the SADS Foundation and the Canadian SADS Foundation on September 22-24, 2017, in Toronto, Ontario, Canada.
The conference opened with a full-day CME session on “Preventing Unexpected Sudden Death: Risk Profiles and Red Flags” to address the knowledge and clinical practice gaps that are occurring during the diagnosis and treatment of SADS conditions. Program Directors Susan Etheridge, MD (Primary Children’s Medical Center), Robert Hamilton, MD (The Hospital for Sick Children), and Danna Spears, MD (Toronto General Hospital) brought together a team of leading experts in the field of SADS conditions who presented cutting-edge information to physicians and allied health care providers.
The next day began with a Channelopathy Update chaired by Martin LaPage, MD. This session featured topics such as “Distinguishing Cardiac from Non-Cardiac Syncope (Autonomic)” by Shubhayan Sanatani, MD, “You’ve Been Diagnosed with CPVT, What’s the Plan?” by Susan Etheridge, MD, “Adult Complexities of the Channelopathies” by Andrew Krahn, MD, “Understanding the Risks and Management of Brugada Syndrome” by Elijah Behr, MD, and “What Are the Channelopathic Diseases that Present So Very Early, and Why?” by David Bradley, MD.
The day continued with a Cardiomyopathy Update chaired by Anjan Batra, MD. Presentations included “How NOT to Miss HCM” by Adaya Weissler, MD, “How Do I Tell if it’s Benign PVCs or ARVC?” by Robert Hamilton, MD, “Non Compaction: the New Cardiomyopathy on the Block” by Aamir Jeewa, MD, and “Patient Presentation” by Heather Cartwright.
That afternoon, a session on Evaluation and Management of the Patient was chaired by Peter Aziz, MD. This included an emphasis on “What I Worry Most About Sudden Death in Children” by Dominic Abrams, MD, “Genetics in SADS Conditions” by Melanie Care, MSc, CCGC, “Liberalizing Exercise for the SADS Conditions” by Elizabeth Stephenson, MD, and “Psychological Impact on New Families” by Penny Sneddon, PhD, R. Psych.
The day ended with an Investigation of Sudden Death chaired by Virginie Beausejour Ladouceur, MD. Of particular interest to medical examiners, topics covered the “Clinician-Coroner Collaboration” by Joel Kirsh, MD, “SCD Cases - What Have We Learned? Where Do We Go From Here?” by Kris Cunningham, MD, “Molecular Autopsy” by Michael Ackerman, MD, PhD, “New Frontiers in the Basic Science of Sudden Cardiac Death Disorders” by Martin Tristani-Frouzi, MD, and “Evaluating the Unknown SCD Family” by Danna Spears, MD. All slides are also available on the SADS Foundation website.
For the first time at this conference, Scientific Posters were presented to broaden the amount of new and relevant information offered to both medical professionals and families. Posters included:
- “Screening Children for Familial Hypertrophic Cardiomyopathy: Is It Time to Change the Guidelines?” by Yaov Bolkier;
- “Living with Sudden Cardiac Death in the Family” by Natalie Butt and Mary Walsh;
- “Phenotypic Variability and Outcome of Arrhythmogenic Cardiomyopathy in Pediatric and Adolescent Patients” by Stephanie Chandler;
- “Families Want Predictive Genetic Testing Early” by Susan Christian;
- “Prevention of Sudden Cardiac Death – Heart Safe Schools” by Gwen Fosse;
- “Modeling Long-QT Syndrome in Caenorhabditis elegans” by Andy Golden;
- “Genotype-Phenotype Guided Medical and Surgical” by Robyn Hylind;
- “Novel Compound Homozygous Mutations” by Kirti Mittal;
- “Investigation and Management Following Cardiac Arrest in Infancy” by Emily Phaneuf;
- “Identifying Individuals at Risk for Arrhythmogenic Right” by Lauren Rickert;
- “Patient Attitudes and Behaviours Towards Sharing” by Melissa Ruinsky;
- “Timothy Syndrome Type 1 is Associated with Atypical Hand Syndactyly Patterns” by Jennifer Ty;
- “Phenotypic Discordance in Congenital Long QT Syndrome” by Kathryn Wojcik;
- “Pediatric Sudden Cardiac Death and a Novel Frameshift Variant in RBM20 Identified via Whole Exome Sequencing: Case Report and Review of the Literature” by Laura Zahavich
Medical Education Seminars
A central priority for the SADS Foundation is our commitment to medical education, which improves the competencies of cardiology specialists. Medical education is offered through a seminar series delivered by an elite team of medical experts, many of whom are board members or scientific advisors of the SADS Foundation.
Additionally, the SADS Foundation recognizes front-line medical professionals as a group who require medical education about channelopathies. These professionals — consisting of pediatricians, family practitioners, emergency room physicians, and school nurses — are often the first health care professionals to see patients with SADS conditions. Without making these front-line professionals aware of SADS symptoms and warning signs, misdiagnoses continue and individuals with a possible SADS condition are not referred to a cardiac specialist.
As a result, the SADS Foundation Speakers Bureau was established. This cadre of knowledgeable speakers give local presentations about SADS conditions to increase awareness of SADS and provide connections to the appropriate cardiac specialist to whom patients should be referred. By educating front-line medical professionals, we reach the principal individuals who make the first decisions toward an accurate diagnosis, as well as give proper care and treatment to SADS families.
The SADS Foundation also seeks to make medical education more easily accessible by providing webinars featuring world-leading SADS experts. These may be attended live at the time of broadcast or downloaded from the SADS Foundation website (www.sads.org/Library/Webinar). All webinars can be attended at no cost.
Scientific Advisory Council and Physician Referral Network
The internationally recognized members of the SADS Foundation Scientific Advisory Council (SAC) lend their expertise to the organization by providing consultations on challenging cases submitted to the SADS Foundation. To date, the SAC has received more than 100 cases in which a physician requested an opinion to determine the next steps to take for a specific patient. A consensus of options is promptly returned to all inquiries.
In addition, the SADS Foundation maintains a national Physician Referral Network (PRN) made up of physicians who are knowledgeable about and interested in channelopathies. The SADS Foundation links families to physicians several times each month for referrals or a second opinion. PRN members receive newsletters and informational materials for themselves and their patients. They also interact with other physicians in the PRN, and influence SADS programs in public awareness and research.
Because of the SADS Foundation’s close relationships to families and medical professionals, it is possible to bring these two groups together to move research forward in the many areas of patient care and treatment. Additionally, the SADS Foundation has presented research funding and recognition to 17 future leaders through its Courts K. Cleveland, Jr. SADS Foundation Young Investigator Awards in Cardiac Channelopathy Research. This award supports the young and brilliant researchers who will create the next life-saving scientific breakthroughs.
The SADS Foundation has earned the distinguished reputation of aggressively delivering the most recent cutting-edge medical education and services for SADS conditions. Recipients include cardiologists, electrophysiologists, primary care physicians, emergency room physicians, fellows, nurse practitioners, school nurses, and genetic counselors. While those who are being educated are practicing medical professionals, ultimately it is SADS families who benefit from accurate diagnoses and improved care of a still mostly unknown condition outside of the cardiology community.