An Important Family Exercise That Can Save Lives During The Holidays This Year
This post is written by members of the non-profit SADS Foundation. The SADS Foundation is a foremost leader in education, research, and advocacy for families of youth at risk for sudden death.
Getting your family’s health history is as simple as talking about it, writing it down, and then sharing it. Sudden Arrhythmia Death Syndromes (SADS) are genetic heart conditions that can cause sudden death in young, apparently healthy people. SADS include long and short QT syndromes, Brugada syndrome, CPVT, hypertrophic cardiomyopathy, and more, and are usually inherited by autosomal dominant transmission, which means that half of the members of your family could have the gene that causes a SADS condition.
The number one warning sign of SADS is a family history of unexpected, unexplained sudden death of a young person under the age of 40. Deaths from drowning, single car accidents or even babies who die from SIDS also may be SADS related.
While a great deal of SADS is understood to be caused by mutations in certain genes, not everyone who has the same gene will express the same symptoms. One person can have absolutely no signs at all, while their child with the same gene could have many symptoms. This is why tracing your family pedigree is crucial to saving lives. Learn more about the SADS Pedigree Project HERE.
An early story by Katherine Timothy (Founding Member of the SADS Foundation)…
A 25-year-old woman in the Christiansen family went to her obstetrician for a seven-month check-up for her second pregnancy. During the examination, great concern was voiced by her physician for the baby as its heart rate was very low. The young mother was sent for an ultrasound and all appeared to be normal. She was told to go home and return in a month. When she returned, the baby’s heart rate was a slow 70-80 beats per minute. Another ultrasound was taken and again all appeared well. She was sent home again but was told that the baby was in a stressed state, and as a precaution, at the time of delivery she and the baby would be carefully monitored.
The woman delivered a beautiful little girl without complications, until one hour post-delivery. In the nursery the baby was being given her first bottle feeding when she turned blue. She was rushed to pediatric ICU and monitored for 14 days. A specialist was called in and Long QT Syndrome was diagnosed. The doctor, upon the diagnosis of LQTS, asked the couple if there was any deafness on either side of their families as deafness on rare occasions can accompany this disorder. Deafness in both families was denied. The baby was sent home on an event monitor and the parents were asked to bring the baby back in a couple of months to be tested for deafness. The doctor also mentioned that Long QT Syndrome can be inherited, but no family testing was initiated.
Two months later, deafness was added to the baby’s LQTS diagnosis. The parents anguished over their daughter’s heart condition and now also worried as to how they would communicate with her. All of this, coupled with her return to work, caused untold stress to the mother. As time went on, the baby continued to have bouts of decreased heart rates and the monitor frequently went off several times in one night. One night was especially difficult: the mother was up most of the night with her young two-year-old son and the baby’s monitor went off eight times. When morning came and the alarm clock rang, the mother went into cardiac arrest and died.
This most tragic of deaths may or may not have been avoided – no one will ever be able to say for sure. From this tragedy we must once again realize the great importance of family members getting testing when Long QT Syndrome is diagnosed. LQTS, in most instances, is passed on to a child from an affected parent. If any child in a family is diagnosed with LQTS, all of the other siblings also may be at risk, as well as parents, grandparents, aunts, uncles, and cousins.
Researchers and experts such as Dr. G. Michael Vincent and Dr. Michael Ackerman of Mayo Clinic have long relied on family histories to assist in the diagnosis of inherited cardiac arrhythmias. Collecting detailed medical histories from patients greatly aided the discovery of the first chromosomal locations of genes causing an abnormally long QT interval.
Completing your family health history (or pedigree) and, if necessary, undergoing screening, can save lives. After a family member is diagnosed with LQTS, or any other arrhythmia, it is extremely important that other family members be tested. It is important to know which parent or grandparent has the abnormality since siblings, aunts, uncles, nephews, nieces, and cousins on the affected side are potentially at risk.
Your family pedigree can identify other family members who may be at risk but don’t know it. They should be tested with genetic testing and ECGs so that they can get treated to prevent a tragic death.
With the SADS Pedigree Kit, you have the tools you need to trace your family and to reach out to family members to encourage them to be screened. Once your kit is returned to the SADS Foundation, it can be used for research to save other young lives.
Tracing Patient Family Pedigrees
LQTS is usually inherited by autosomal dominant transmission meaning that each child of an affected parent has a 50% chance of inheriting the genetic abnormality. This means about half your family might have the genetic marker which causes a SADS condition. Not everyone who has the same genetic marker will express the same symptoms. One person can have absolutely no symptoms, but their child with the same gene could have many symptoms. Often families find that many members are carrying the gene but have no symptoms at all. This is why tracing your family pedigree is crucial to saving lives.
Remember: our goal is to help you expand your pedigree so that you can let family members know that they—or their children—need to be tested. Genetic testing to confirm the presence of the same mutation across the family further helps to confirm clinical SADS within the family and helps to take a preventative approach to future family members’ management of symptoms. These measures will save lives!
Family Pedigree Project
The Family Pedigree Project will assist SADS families to map out their own pedigrees to identify other individuals who may be at risk.
Figure 1 shows how you can start your own personal pedigree or family tree with your immediate family. Squares represent males, while circles are females. Colored-in circles or squares represent people with a SADS condition. Unless it is known which family—your mother’s or your father’s side—has SADS, both families must complete their family pedigree and have genetic testing and ECG evaluation.
Figure 2 shows the grandparents and the siblings of both parents. Once the mother or the father has been diagnosed (in this case the mother), you can continue to look at more generations of that side of the family and have ECG and genetic testing for those at risk.
Figure 3 shows that another son in that first family has been diagnosed and a brother and sister of the mom have also been diagnosed. In all, diagnosing the first child has led to 8 other family members being diagnosed and treated so far!
Phosphorus offers genetic testing for SADS-related conditions, including Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), short QT syndrome (SQTS), arrhythmogenic right ventricular dysplasia/cardiomyopathy, hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DM).