New SADS Logo
Medical Education E-NewsletterSeptember 2011
In This Issue
SADS Featured in EP Digest
Updated Genetic Testing Guidelines
SCA Survival from CARES Research
PACES Pre-HRS Symposium
Menopause Support Group
Support SADS
Menopause and LQTS
Currently Enrolling Studies
Medical Education Seminars
17th Annual No Ball At All
No Ball 2011

Contact Laura or call 800-786-7723 to get involved!

Find SADS on Twitter!
Donate Online 
Find SADS on Facebook
Join Our Mailing List
Thanks for reading our Medical Education e-newsletter! Please feel free to send us comments or critiques and forward to all your colleagues. We want to make this e-newsletter exactly what you want and need it to be!
The EP Lab Digest is a publication that focuses on electrophysiology lab professionals and physicians.  It has become an educational tool as well as a forum through which professionals share information about best practices, cutting edge procedures, and other relevant information to the EP community.  The SADS Foundation was featured in their August edition with an article describing our vision, commitment to families, healthcare providers and communities and the actions that we take to save the lives of young people.  Visit the SADS website to read the article.EP Lab Digest
The 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing of Channelopathies and Cardiomyopathies was written by a group of national and international heart rhythm experts, including SADS Board and Scientific Advisors, Dr. Michael Ackerman, Dr. Silvia Priori, Dr. Charles Berul and Dr. Arthur Wilde, in collaboration with the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).  In this statement, the authors summarize the state of genetic testing for various channelopathies and cardiomyopathies and assign a classification to the utility of each with respect to the relative diagnostic, prognostic and therapeutic impact the genetic test results will have for a patient.  Genetic testing is either considered "recommended"," useful", "may be considered" or "not recommended" depending on the criteria that are met by each individual test.  Of specific note, detailed information and recommendations for genetic testing for LQTS, Brugada Syndrome, SQTS and ARVC for both index and family testing are included.   


For LQTS, targeted genetic testing is recommended (class I) for:

  • any patient in whom a cardiologist has established a strong clinical index of suspicion for LQTS based on examination of the patients clinical history, family history and expressed electrocardiographic phenotype
  • for any asymptomatic patient with QT prolongation in the absence of other clinical conditions that might prolong the QTc interval on serial 12 lead ECG defined as QTc>480ms (prepuberty) or >500ms (adults)
  • mutation-specific genetic testing is recommended for family members and other appropriate relatives subsequently following the identification of the LQTS-causative mutation in an index case. 

For LQTS, targeted genetic testing may be considered (class IIb) for:

  • any asymptomatic patient with otherwise idiopathic QTc values >460ms (prepuberty) or >480ms (adults) on serial 12-lead ECGs. 

A summary of expert consensus recommendations for other channelopathies as well as cardiomyopathies can be found on our website.  The state of genetic testing for out-of-hospital cardiac arrest survivors as well as postmortem testing in sudden unexplained death cases were also reviewed and recommendations generated.  Please visit our website for more details. 

Interesting Facts About SCA Survival Rates
The Cardiac Arrest Registry to Enhance Survival (CARES) indicates that each year approximately 295,000 people in the US experience an out-of-hospital cardiac arrest (AHCA).  Unfortunately, a large percentage, about 92%, do not survive the event.  It is estimated by this group that about 70-85% of these events have a cardiac cause.  Their landmark report studies 31,689 cases where a cardiac etiology is presumed and the following results were indicated:
  • The mean age of victims is 64 years old61% were male
  • The survival of hospital discharge rate was 9.6%
  • 36.7% of cases were witnessed by a bystander
  • 33% received bystander CPR
  • 5,760 estimated SCA incidence in youth (under age 18)  
  • 3.7% were treated by a bystander with an automated external defibrillator (AED) 

Though not necessarily related to SADS conditions in most cases, the statistics are interesting and point toward the need for better education of the general public on bystander intervention, since nearly half of cardiac arrest events are witnessed, yet effective, lifesaving measures are not administered in many cases.  In the words of the principal investigator, Byran McNally, MD from Emory University, "If a pulse is not restored before EMS transport, additional efforts at the receiving hospital almost invariably fail."

We are encouraged by family stories we hear about the increased availability of AED's in public places and hope that these statistics will begin to change with knowledge and resources available to the general public. 

PACES Pre-HRS Symposium Announced
SADS will again co-sponsor and participate in the PACES Pre-HRS Symposium, entitled Sudden Cardiac Death and the Rest of the Family. It will take place in Boston during the Heart Rhythm Society's Annual Scientific Sessions on Tuesday, May 8th from roughly 2:00pm-7:15pm.  Location and program details to follow. 
New Support Group for Women over 40 with SADS Conditions
The female over 40 population is a unique group that has special considerations and concerns pertaining to SADS conditions. Research has raised questions as to what the hormonal influence is on arrhythmias during this time in a woman's life. To facilitate an open dialogue, aimed at support and information gathering, the SADS Foundation has created a facebook group. We are hoping to let women get in touch with each other to share experiences as well as create an information pool on what the qualitative experience of living with a SADS condition at this time of your life is like. Family 4


If you have any patients who would be interested in this group, please have them contact Anne E. Maurer at, 800-STOP-SAD, or find her on Facebook.

Donate Online to SADS Medical Education Program
Have you participated in a SADS-sponsored seminar and been pleased with the information provided by leading experts in the field?  Do you appreciate receiving our medical e-newsletters and quarterly literature reviews?  Do you feel that we are a good resource to you and the families you work with?  If so, we could use your help to keep this valuable resource growing.

New SADS LogoSupport the work of the SADS Foundation today at:



Together we can empower your patients, enhance your practice and improve patient care.

This October 1-2 the SADS Foundation will be hosting an educational conference in Atlanta for patients and medical professionals interested in heart rhythm disorders.

SADS I CThis conference offers a unique opportunity to hear from internationally recognized specialists who focus on cardiac arrhythmias and interact with other colleagues diagnosing and treating SADS conditions. This course will provide CME credits and allow participants to ask questions to the world's experts, including Dr. Silvia Priori, Dr. Michael Ackerman.

Topics for this year's conference include:  Diagnosing Channelopathies, Challenges of Living with SADS Conditions, State of Pre and Post Mortem Genetic Testing, Genetic Counseling, ICD's, Latest Treatment Options, LQTS and BrS Drug Lists and a discussion about what diagnosis and treatment of channelopathies might look like in 2020. 

Click here for program and registration information. 

Does Menopause Cause an Increased Risk for Cardiac Events in LQT Patients?
SADS has received multiple questions recently from patients surrounding the risk associated with adverse events during menopause.  A paper published this year in Circulation, "Risk of Recurrent Cardiac Events After Onset of Menopause in Women With Congenital Long-QT Syndrome Types 1 and 2", helps to answer these questions.  If we are receiving these types of questions here in our office, it's likely that your patients are also inquiring about similar issues during visits with you.


The study consisted of 282 LQT1 and LQT2 women enrolled in the Long-QT Syndrome Registry.  Multivariate analysis demonstrated that recurrent syncope risk was significantly increased for LQT2 women during both menopause transition and the postmenopausal period compared with that of the reproductive period.  Estrogen therapy did not seem to have an impact on the associated risk.    For LQT1 women, the study reported the opposite finding.  LQT1 women showed a reduction in risk for recurrent syncope with the onset of menopause.  The authors concluded that careful follow up and continued long term therapy is warranted in the LQT2 menopausal population.

Currently Enrolling Studies
New NIH-Funded Clinical Trial for CPVT
Patients who have been diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) and have an ICD, may be eligible for a new clinical trial of flecainide, an antiarrhythmic drug which may benefit patients with CPVT.
The study will begin enrolling later this year and is being led by Dr. Prince Kannankeril, MD, MSCI, at Vanderbilt University Medical Center.

Diagnosing LQT in Utero

In the last 5 years much has been learned about LQTS including that it appears to be much more common than previously recognized-as common as 1 in 2,500 people. This exciting new research will now give us the ability to diagnose a baby before he/she is born.
We have the ability to diagnose LQTS before birth using a non-invasive test, called a magnetocardiogram that presents no danger to the mother or fetus; it does not use radiation like CT scans or x-rays. The mother lies comfortably in a magnetically shielded room with a large tube, the biomagnetometer, positioned above her abdomen. The optimal time to have the fMCG, which takes a total time of about 2 hours, is at 22-26 weeks of gestation.

As of last year, we have evaluated 31 fetuses at risk for LQTS and 14 were affected. Based on the fetal findings, asymptomatic toddlers in 2 families were also found to have LQTS. In addition we have found very good correlation between fetal and neonatal QTc, and that the heart rates of the LQTS fetuses can be higher than what the obstetricians would consider "abnormal" Based on our study so far, we suspect that LQTS is not detected in a considerable number of fetuses that deliver normally. Thus, magneotcardiography can be helpful in diagnosing LQTS in the fetus with a positive family history, and further data will help to define the risk factors in the fetus without a negative family history of LQTS.  This study is being led by Bettina Cuneo, M.D., Associate Professor of Pediatrics and Obstetrics and Director of Perinatal Cardiology at The Heart Institute for Children and Advocate Health Care Chicago.

For more information on any of our enrolling studies, log onto our website at or contact Anne Maurer, Director of Family Support at or 800-STOP-SAD. 
Medical Education Seminars
Please contact Christine Fontanella at if you are interested in working with us to bring medical education to your hospital or facility


SADS Sponsors Medical Education in Nashville, TN

Special thanks to Dr. Prince Kannankeril, Dr. Frank Fish, Dr. Dawood Darbar and Dr. Susan Etheridge for participating and assisting with the coordination of our symposium at Vanderbilt Medical Center and a local dinner program at the Stony River Restaurant.  Area physicians and healthcare professionals attended these events and learned about SADS conditions including LQTS and CPVT and also heard a lecture about the genetics of AFib.  Thank you to GeneDx for providing the SADS Foundation with an unrestricted educational grant which made this program possible.


SADS Sponsors Medical Education in Austin and San Antonio, TX

Earlier this month, Dr. Michael Ackerman participated in multiple SADS-sponsored medical education seminars in the Austin and San Antonio areas.  Several local physicians were instrumental in bringing these educational programs to their facilities and we would like to thank them for their time and efforts.  Local physicians and healthcare providers learned about both channelopathies and cardiomyopathies and we were impressed with the questions that came from each group.  Thank you to Transgenomic, Inc. for providing the SADS Foundation with an unrestricted educational grant which made these programs possible.


Alice, Laura, Christine, Anne, Adrienne, Sarah, Amy, & Kara
The SADS Foundation