Genetic Investigations in Atrial Arrhythmias
A
Adam Kean, MD
Primary Investigator
Enrolling By Invitation
1 years - 100 years
All
Phase
N/A
6 participants needed
1 Location
Brief description of study
What is the purpose of this study?
The purpose of this study is to learn more about the reasons that people have abnormal rhythms in the top part of the heart (the atrium).
THIS STUDY IS ENROLLING BY INVITATION ONLY - Study team will identify and contact patient and/or members of patient's family who has one of these abnormal rhythms or is at risk for one of these rhythm problems. We also enroll some people who do not have one of these genetic disorders and can be compared to other participants in our study.
Detailed description of study
What will happen during the study?
- Medical history information and whether other members of your family have had heart disease will be obtained by study staff.
- A blood sample or non-invasive DNA sample (such as from saliva) will be collected.
- This study is ongoing and will involve long-term follow-up. The study team will contact
you in three cases:
(1) The study team will contact you four times (every six months for 2 years) to ask if
you have had any changes to your heart rhythm care. If you have attended a clinic
visit since the last contact, the study team may use the clinic visit information
instead of contacting you.
(2) If your genetic testing revealed potentially clinically useful information and you
chose to receive that information, we may share that information with you or
recommend that you have additional genetic testing in a clinical laboratory.
(3) We may contact you to offer the opportunity to participate in future studies. You
may ask us not to contact you in the future by contacting a study coordinator or
study member in writing
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Early-onset Atrial fibrillation, EOAF, Riley
-
Age: 1 years - 100 years
-
Gender: All
Inclusion Criteria:
- Patients with EOAF
a. Best case: Atrial fibrillation documented on a tracing AND the tracing is available
for review. A tracing means a 12 lead ECG or other form of rhythm monitoring
with direct beat-to-beat electrograms.
b. Permissible case: Written medical records from an expert provider who had
direct, contemporaneous access to tracings. For example, a note from an
electrophysiologist documenting AF from direct tracing review is acceptable
documentation of an atrial fibrillation event, even if those tracings are no longer
available.
Exclusion Criteria:
- Exclude: Anecdotal or inexpert documentation. Examples:
i. Exclude a patient who gives a verbal history that he or she presented to
an emergency room and received a diagnosis of atrial fibrillation. If
corroborating medical records are available for review, the patient might
qualify under 1A or 1B.
ii. Exclude a patient with documented AF older than age 35, but who gives
a verbal report that he or she has a personal history of paroxysmal
palpitations prior to age 35. The recollection that this started before age
35 is not sufficient.
iii. Exclude a patient with a smart watch or Kardia report of atrial fibrillation
unless tracings are available for direct expert review under 1A. Because
consumer devices are so new, do not accept consumer documentation
for inclusion unless the tracings are available for review (don’t use 1B).
Additional Exclusion Criteria (affected participants):
2. Exclude structural and congenital heart defects
a. Exceptions: include patients with patent ductus arteriosus, patent foramen ovale,
bicuspid aortic valve without other abnormalities, or muscular ventricular septal
defect with spontaneous closure.
3. Exclude previously diagnosed heart rhythm or heart muscle disease.
a. Exclude pre-existing cardiomyopathy with ventricular dysfunction, ventricular
hypertrophy, or ventricular dilation.
b. Exclude known pre-existing channelopathy (e.g., catecholaminergic polymorphic
ventricular tachycardia)
Interpretation: Exclusion criteria 2 is based on the timing of phenotype. The study
goal is to include patients whose initial presentation is a clinical phenotype of atrial
fibrillation with no other major co-morbidities.
If the patient later develops a phenotype of cardiomyopathy or channelopathy, they
are still eligible for inclusion if the phenotype of cardiomyopathy or channelopathy
was after the clinical presentation of AF. If you have questions on a specific
patient, please contact the coordinating center.
4. Previous exposure to chemotherapeutic agents associated with cardiomyopathy
5. Clinically relevant myocarditis at the time of AF
a. Myocarditis is a clinical diagnosis and should be adjudicated by the referring
physician. Supportive evidence for genuine myocarditis, rather than transient
systemic inflammation, include cardiac MR with positive Lake Louise criteria, and
positive endomyocardial biopsy with light microscopy or molecular techniques.
Ultimately, excluding patients based on concurrent myocarditis at the time of atrial
fibrillation is a clinical judgement in the hands of the referring physician. The central
coordinating center is available to discuss if desired.
6. Thyroid disorder at the time of atrial fibrillation, thought to contribute to the arrhythmia risk
a. Exclusion should be based on the presence of inadequately controlled clinical
thyroid disease. Mild thyroid abnormalities thought to be acute phase reactants
(e.g. increased T3, decreased T4 associated with near-normal TSH) are not
sufficient criteria for exclusion.
Notes on Inclusion/Exclusion Criteria:
• Supraventricular tachycardia and ventricular pre-excitation are not exclusion criteria
o Only include patients if they have a clinical presentation of EOAF. Do not include
patients exclusively based on atrial fibrillation induced during electrophysiology
study.
• Alcohol/drug intoxication are not exclusion criteria. Although we recognize that alcohol,
marijuana, and other drug exposures may trigger atrial fibrillation, we include those
patients in our study.
Updated on
21 Apr 2025.
Study ID: PCRD-LCHC-AF, 19100
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