New Program with Coroner Supports Bereaved Families
A unique program developed by Cincinnati Children’s Heart Institute and the local Hamilton County Coroner’s Office in Ohio recently helped uncover an undiagnosed genetic heart condition in a young child.
The Southern Ohio Molecular Autopsy Program (SOMAP), founded in 2018, facilitates genetic testing as part of an autopsy—called a molecular autopsy—to understand a specific cause of sudden cardiac death.
In 2022, a generally healthy woman under the age of 35 experienced a sudden cardiac death unexpectedly. An autopsy identified a cardiac cause of death, specifically the dissection of the aortic root. Postmortem genetic testing was conducted through SOMAP and led to the discovery that the woman had been living with an undiagnosed heritable heart condition related to a genetic condition called Loeys-Dietz syndrome.
This finding ultimately led to genetic testing and evidence of mild aortic root dilation in one of her children. As a result, the child is now receiving medical treatment and has a follow-up plan of care. Two of the woman’s other children tested negative for the specific gene, so the family was provided the reassurance that they did not need any type of additional evaluation or cardiac screening.
An ‘Enormous Ripple Effect’
A sudden cardiac death is one due to a cardiovascular cause where death, if witnessed, occurs within one hour of the onset of symptoms. If unwitnessed, the definition expands to include death within 24 hours of symptom onset. The individual may or may not have a known diagnosis of heart disease.
While relatively uncommon in healthy people under age 35, when SCD does occur in this population, it is frequently due to an inherited disorder—one that could also be present in surviving family members.
“When sudden death happens, even though it’s rare, it has an enormous ripple effect on families, schools, communities, and providers,” says Erin Miller, MS, LGC, a licensed genetic counselor in the Heart Institute. “Our goal is to prevent it from happening again in a family when we can. Understanding the underlying cause is the key to being able to do that.”
Miller is the primary genetic counselor involved in SOMAP. The program sees about 10-15 cases each year.
Understanding Who Else Might Be at Risk
Family members often want to know the underlying cause when sudden cardiac arrest and death occur. This can help them experience closure, and can also address the potential of heritability and risk of sudden death for surviving relatives.
“Identifying the genetic cause not only helps explain why the person had that specific cardiac problem, but it also gives us the ability to understand who in the family may be at risk and who is not,” Miller says. “We can be much more thoughtful and specific about the type of heart screening at-risk family members might need if we know the genetic cause.”
SOMAP offers education, support, and medical management for these families, consisting of a thorough investigation of the deceased’s medical records, including autopsy reports, and using blood and tissue samples for genetic testing. When warranted, they offer genetic testing to better understand the cause of sudden cardiac death and guide care for the surviving family members.
In some cases, says Heart Institute electrophysiologist David Spar, MD, follow-up care is offered regardless of genetic test results. “Sometimes there is no finding on autopsy, and genetic testing is negative. Depending on the circumstances, we may offer a clinic visit to follow first-degree relatives to keep an eye out for phenotypic changes,” says Spar, part of the SOMAP team.
The type of genetic testing requested as part of the postmortem evaluation is based on the autopsy findings and potentially other medical or family history. If no cause of death is found, then broad genetic testing such as a comprehensive arrhythmia and cardiomyopathy panel is typically recommended. If a cause of death is identified on autopsy, such as aortic dissection, then genetic testing that includes genes associated with aortic aneurysms and aortic dissections is recommended.
Multidisciplinary Management Is Crucial
The key to the program’s success, according to Spar, is its multidisciplinary structure. SOMAP involves collaboration by the county coroner, genetic counselors, and an electrophysiologist, as well as staff who work with the families of the deceased on information gathering and compiling detailed medical histories.
They also work closely with the labs doing the genetic testing. Technology has advanced so much that today these labs are often able to perform the testing with an extraction from a blood spot card. While Miller says a blood sample is ideal, it’s not the only option.
Important Reminders for Providers
Many people think about postmortem genetic testing in cases of unexplained death. But the SOMAP team emphasizes that it’s also incredibly powerful in cases when there’s a potential genetic heart problem and that knowledge could help living family members with better monitoring if they are also carrying the same genetic variant (mutation).
Both Spar and Miller stressed the importance of providers asking updated family history questions of patients at every visit. In cases of a reported sudden death in a relative age 40 or under, the next step would be to request a copy of the autopsy report and possible genetic testing.
While few programs like SOMAP exist presently, the National Society of Genetic Counselors offers support from genetic counselors with expertise in postmortem genetic testing.
The SOMAP team can be contacted at 513-636-4729.
(Published October 2023)
