History of the SADS Foundation and Long QT Syndrome

Long QT syndrome (LQTS) came from Denmark to Salt Lake City in the mid 1850s
1856 The first documented case of Long QT syndrome was described in Leipzig by Meissner, where a deaf girl
died after her teacher yelled at her. When the parents were told about her death, they told that her older brother who
also was deaf died after a terrible fright. This was several decades before the ECG was invented, but is likely the
first described case of Jervell and Lange-Nielsen syndrome.
1957, the first case documented by ECG was described by Anton Jervell and Fred Lange-Nielsen, working in
Tnsberg, Norway.
1963-64 Italian pediatrician Cesarino Romano, in 1963, and Irish pediatrician Owen Conor Ward, in 1964, ]
separately described the more common variant of Long QT syndrome with normal
hearing, later called Romano-Ward syndrome.
1972: Dr. Michael Vincent joined the University of Utah CVRTI lab. Dr. Abildskov
(famous heart rhythm researcher) and Dr. Michael Vincent confer.
1973: Dr. Vincent identified a Utah family of Danish origin to have LQTS,
following the SCD of a member. Two brothers and families came to Utah in 1856
as members of the Church of Jesus Christ of Latter Day Saints (The Mormons)
and they brought family genealogy records (a gold mine for inherited disease
researchers).
Merle with baby triplets:
Diane, Sharon and Janet
Sharon, Janet and Diane

1975: under the

direction of Dr. Vincent, Katherine Timothy,
Jolene Fox and several others developed a busy clinical care and aggressive
clinical research program, with goals to expand the family pedigrees as much
possible.

as

Katherine W. Timothy
1979 The establishment of the International Long-QT Syndrome Registry allowed numerous pedigrees to be
evaluated in a comprehensive manner.
By the mid 80s Dr. Vincent, et al had an 11 generation pedigree on the Danish family with around 1100 members
identified!

Mid 1980s: Ray White PhD and Jean-Marc Lalouel PhD join the University faculty in
Human Genetics. Jean-Marc had just developed the linkage analysis program for molecular
genetic studies in families.
Dr. Raymond L. White
1988: Ray, Jean-Marc, and Mark Leppert collaborate and apply the linkage tool to the large Danish family
pedigree.
In 1989, Dr. Vincent initiated a formal collaboration with the Human Genetic Department at the University of Utah
to discover the genesis of the long QT syndrome. In an effort to further this research project, Dr. Vincent generously
loaned Katherine Timothys services out to help the newly selected young cardiologist, Mark Keating, in this quest.
1989: Mark Keating, MD, Ph.D., newly minted molecular cardiologist researcher, joined the University
faculty and chose to pursue the linkage studies in the Danish and other families as his primary project.
Friday, November 16th 1990: Notes from Katherine Timothys lab book Had meeting with the Marks (meaning
Mark Keating and his mentor Mark Leppert), informing them of Dr. Vincents success in arranging for pedigrees to
be sent from Jerusalem and Italy, also that the Baylor group is very active in their own genetic research. Mark
reported on finding linkage to chromosome 11 with an unbelievably positive lod score of plus 16. WONDERFUL
FIND!
November, 1990: from Katherines journal Correlations of each patients phenotype regarding QT interval
lengths, syncopal spells, cardiac arrest episodes and sudden deaths could now be accurately compared by genotype.
The Marks were adamant that the second paper should be written immediately. Dr. Vincent and I began the
laborious task of evaluating our 125 now genotyped patients of Kindred 1532 for classification of their symptoms
with respect to their affected or non-affected status. It was during one of our afternoons reading ECGs together that
Dr. Vincent shared with me his thoughts about starting a new foundation to help people and families affected with
the long QT syndrome. At that time, he had been working with some branches of this very large LQT family for
almost 20 years. This was the simple beginning of the SADS Foundation.
Additional help arrived in 1990
Li Zhang MD joined the team
1991: Keating et al report the first genetic linkage results in LQTS, using the Danish family and two others.
Affected members linked to the
Harvey ras-1 locus on chromosome 11 (later named
KCNQ1): the LQT1 form. This is
considered a most significant breakthrough
Keating M, Atkinson D,
Dunn C, Timothy KW, Vincent GM, Leppert M: Linkage
of a Cardiac Arrhythmia,
the Long QT Syndrome, and the Harvey ras-1 Gene.
Science
1991;252(5006):704-706.
April 19th 1991,: from Katherines
lab journal, Dr. Vincent presented his foundation ideas to
our research group. He is most interested in furthering the education of physicians and research.
1992: Vincent, et al report the first genotype-phenotype studies in LQTS (comparison of the genetic findings
to the clinical findings- symptoms, ECG), based on the H-ras-1 linkage study.
Vincent GM, Timothy KW, Leppert M, Keating M: The Spectrum of Symptoms and QT Intervals in the
Carriers of the Gene for Long QT Syndrome. New England Journal of Medicine
1992 Dr. Vincent contacted an attorney friend, David E Salisbury, to draw up the
papers for a 501(c)(3) charitable organization. He was Vice President, Katherine
Timothy was Secretary, and Dr. Michael Vincent was the President, Chair of the
Board, and Chief Medical Officer. They were the founding members.

Charlene Holmstrom, Lynn Godfrey, Nancy Duitch and Doris Goldman, Katie Roberts, Kathy Vincent, and several
others were early staff of the fledgling foundation.
September 1994; Pam Husband put her life on the line and told her personal story of
tragedy to the Toronto Star and overnight she became inundated with phone calls for
assistance in Canada.
1995-1996: The identification of three LQTS genes takes place within 9 months, between
March 1995 and January 1996.
December 1995, Schwartz et al. provided the first evidence of gene-specific differential responses to various
interventions.
June 1996: Lesson learned: Power of the Media
A Readers Digest Article by Peter Michelmoore. Michael Vincents Good Cause. June 1996. 27 million
copies sold
The ABC Saturday Night 20/20 News The Pulse with Dr. Nancy Snyderman.
Long QT syndrome. July 4. 1999. Thousands of phone calls. This morning TV spot
brought thousands of phone call to LDS Hospital, so many in fact, that every doctor,
nurse and employees voice mail was jammed to the limit with phone messages from
TV viewers. The hospital administration was horrified by the confusion caused by the
fiasco
And many subsequent media articles on TV, and radio, in newspapers, magazines, etc.
1996: Maryann Anglim and Walter Allan M.D. publish KARA MIA, the story of sudden loss and slow recovery in a
teenager with Long QT syndrome. It is the first literary approach to LQTS.
1997: the European LQTS Information Center (now QTsyndrome.ch) goes online.
1998: Dr. Peter Schwartz suspects prolonged QT-interval is an important cause for Sudden Infant Death Syndrome
(SIDS).
Early in 1999 SADS UK was formed by John and Anne Jolly to add their forces to our battle against sudden death
February 1999: Priori et al. demonstrate that for each gene carrier showing QT prolongation and symptoms of the
disease there may be a substantial number of family members who carry the defect in the presence of a normal QT
interval.
1999: the LQT6 gene is identified on Chromosome 21. It is named MiRP1 for Min K related protein 1. It resides
next to LQT5 (min K gene).
1999: The Internet search engine Yahoo! admits the subcategory Long QT Syndrome.
2000: Defects of the SCN5A gene encoding the cardiac sodium channel are associated with both the LQT3 subtype
of long QT syndrome and Brugada syndrome.
2001: The LQT7 gene is identified and associated with Andersen syndrome.
2001: Julie Foley formed SADS Australia
2002: The first International Sudden Arrhythmia Death Syndromes (SADS) Conference is held in London.