Our cardiogenomics team has experience offering guidance to families in the case of a sudden unexpected death of a child or young adult under the age of 50 from a known or suspected heart condition. We can also provide guidance when an autopsy fails to identify the cause of a sudden death.
Make an appointment with a genetic counselor
Cardiovascular genetic counselors specialize in helping families navigate these difficult cases. By gathering as much information as possible, we can better assess if a genetic condition was the underlying cause of a family member’s sudden death. This information includes:
- Taking a detailed three-to-four generation family medical history.
- Identifying family members who are most at risk for a hereditary heart condition and recommending appropriate cardiology evaluations.
- Advising the family about how to collect cardiology records, death certificates and autopsy reports for family members with suspicious symptoms.
- Choosing the most appropriate genetic test for the family and coordinating genetic testing.
- Sending autopsy samples from the deceased family member for DNA extraction and DNA banking so that additional genetic testing remains possible in the future.
- Connecting the family with patient advocacy groups and other sources of support.
There are a few time-sensitive steps that should be taken immediately following a sudden cardiac death
Taking these steps will greatly improve the chances that a specific cause of cardiac death can be identified:
- Request an autopsy, including histologic examination of the heart tissue by an expert cardiac pathologist.
- Ask the coroner or medical examiner to save a blood sample or fresh-frozen tissue sample for genetic testing.
- Consider alternative sources of DNA before they are discarded.
- Gather cardiac rhythm strips from first responders before they are discarded.
Guidance for health care providers, medical examiners and coroners is available through the National Society of Genetic Counselors. They can also email firstname.lastname@example.org, and a genetic counselor with expertise in postmortem genetic testing will reply within 48 hours. The National Association of Medical Examiners has published recommendations with detailed information about saving samples for postmortem genetic testing.
If an autopsy was not performed or appropriate autopsy samples are not available, there may be other sources of DNA available.
Discuss your family medical history with relatives
Certain red flags in a family history can indicate a possible hereditary heart condition. Ask your family members if anyone in the family has experienced the following. Be sure to ask how old they were when the event occurred.
- Passing out (especially with exercise, loud noises or strong emotion/startle)
- Unexplained seizures
- Heart attack or cardiac arrest (especially before age 50)
- Heart failure (especially before age 50)
- Stroke (especially before age 60)
- Palpitations, dizziness, chest pain, or shortness of breath
- Childhood deafness
- Accidental death (an unexplained accident while driving a car or a drowning by someone who knew how to swim)
- Heart surgery (valve replacement, myectomy, heart transplant or other)
- Implantation of a pacemaker or ICD (especially before age 50)
- Infant death, SIDS or stillbirths
- Other sudden and unexplained deaths (especially before age 50) of seemingly healthy person
Gather family medical records that may provide important clues
It is particularly important to gather records for the family member who died suddenly, including:
- Complete autopsy report, with cardiac pathology report and toxicology results.
- ER and hospital records from the day of their death.
- Prior cardiology records (including original EKG tracings and a disc with images from the most recent echocardiogram or cardiac MRI).
- Medical records from their primary care physician.
You should also gather records for any family member with a suspicious history and at-risk family members should undergo cardiology screening
These evaluations are important for two reasons:
- They could help identify the underlying cause of the sudden death.
- They may protect other family members by diagnosing a heart condition that needs treatment.
Any relative, no matter how distantly related, should be evaluated by a cardiologist if they have suspicious symptoms (palpitations, dizziness, chest pain, shortness of breath, fainting, seizures or childhood deafness).
How to request family medical records
- Cardiology records
Medical records can be requested directly from the doctor's office or hospital where the patient was seen. You will need to make your request in writing. You can use this form to have a copy of your records sent directly to us prior to your appointment.
If you already have a copy of the records, you can fax them to us at (650) 497-8422 (send them to the attention of the cardiogenomics team). Please be sure to include the name of the patient we will be seeing on your cover sheet.
- Death certificates
These can be ordered through the county where the death took place. Often death certificates can be ordered online through an organization like VitalChek. A death certificate is helpful because it lists a family member's official cause of death and it tells us if an autopsy was performed.
- Autopsy reports
These can be ordered through the coroner's office for the county in which the death took place.