Genetic Markers of Cardiovascular Disease in Epilepsy
| Status: | Recruiting |
|---|---|
| Conditions: | Peripheral Vascular Disease, Cardiology, Neurology, Neurology, Epilepsy |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Neurology, Other |
| Healthy: | No |
| Age Range: | 18 - 50 |
| Updated: | 4/17/2018 |
| Start Date: | May 2016 |
| End Date: | May 2022 |
| Contact: | Lisa D. Block |
| Email: | CPL@mayo.edu |
| Phone: | 507-255-0492 |
Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.
Epilepsy is a common condition which affects over 3 million people in the US. Patients with
uncontrolled epilepsy have a lifetime risk of sudden unexpected death (SUDEP) of 35%, which
is greatest in those under 40 years of age. The exact mechanisms and causes are not
understood but can be due to underlying conditions which affect the heart and brain, which
may lead to dangerous heart rhythms and death. Some of these conditions which affect heart
and brain have an identifiable genetic cause. This study aims to identify known genetic
causes of heart rhythm and sudden death related disorders in patients with epilepsy.
uncontrolled epilepsy have a lifetime risk of sudden unexpected death (SUDEP) of 35%, which
is greatest in those under 40 years of age. The exact mechanisms and causes are not
understood but can be due to underlying conditions which affect the heart and brain, which
may lead to dangerous heart rhythms and death. Some of these conditions which affect heart
and brain have an identifiable genetic cause. This study aims to identify known genetic
causes of heart rhythm and sudden death related disorders in patients with epilepsy.
The overall goals are to determine whether patients with epilepsy who have the highest risk
of SUDEP have an underlying genetic cardiovascular disorder. The investigators are seeking
patients with epilepsy who have a high risk of SUDEP identified by using a risk scoring tool
called SUDEP-7 and/or have blood-relatives with a history of epilepsy, seizure, cardiac
arrest, sudden death, drowning/near-drowning, syncope or heart rhythm disorder. The
investigators may also include blood-relatives of patients with epilepsy and invite them to
participate by providing a blood sample and/or buccal cells (from a swab or saliva) for
genetic testing.
of SUDEP have an underlying genetic cardiovascular disorder. The investigators are seeking
patients with epilepsy who have a high risk of SUDEP identified by using a risk scoring tool
called SUDEP-7 and/or have blood-relatives with a history of epilepsy, seizure, cardiac
arrest, sudden death, drowning/near-drowning, syncope or heart rhythm disorder. The
investigators may also include blood-relatives of patients with epilepsy and invite them to
participate by providing a blood sample and/or buccal cells (from a swab or saliva) for
genetic testing.
Inclusion Criteria:
- Adults ages 18 - 50 with a diagnosis of epilepsy or seizures, or syncope or drowning
or cardiac arrest or sudden death or an abnormal ECG suggestive of an arrhythmia
- Blood-relatives (Aged 18+) of a patient with a history of epilepsy, seizure, cardiac
arrest, sudden death, drowning, syncope or arrhythmia
Exclusion Criteria:
- Those who are unable to provide written consent.
- Prisoners (vulnerable population)
- Seizures secondary to ischemic events
- Traumatic brain injury resulting in seizures
- History of cranial surgery
- History of brain tumor
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