ID

45080

Description

Principal Investigator: Dawood Darbar, MD, Vanderbilt University, Nashville, TN, USA MeSH: Atrial Fibrillation,Atrial fibrillation, familial 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000362 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. Large epidemiological studies have demonstrated a significant heritable component in atrial fibrillation (AF), especially the Lone forms, suggesting a monogenic syndrome. Although substantial genetic contribution has been made to the etiology of AF, the specific genes have not yet been identified. The familial form of this disease remains poorly characterized and largely undetermined. Here we seek to identify, characterize and determine the natural course of AF in our clinical practice. We identified four large multi-generation families (FAF 1-4). In FAF 1-2, most family members have symptomatic paroxysmal Atrial Fibrillation (AF) and were adequately treated with a combination of rate and rhythm therapies. By contrast, the AF substrate in FAF 3 and 4 was resistant to anti-arrhythmic drugs and ablation therapies.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000362

Keywords

Versions (2)
  1. 8/19/22 8/19/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Dawood Darbar, MD, Vanderbilt University, Nashville, TN, USA

Uploaded on

August 19, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000362 NHLBI GO-ESP: Family Studies: (Familial Atrial Fibrillation)

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Exclusion criteria: Individuals less than 18 years old, have no atrial fibrillation, have had a bone marrow transplant or cardiac transplant, or if atrial fibrillation was diagnosed within 90 days of cardiac surgery.
Description

Exclusion criteria: Individuals less than 18 years old, have no atrial fibrillation, have had a bone marrow transplant or cardiac transplant, or if atrial fibrillation was diagnosed within 90 days of cardiac surgery.

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0001779
UMLS CUI [1,3]
C1298908
UMLS CUI [1,4]
C0004238
UMLS CUI [1,5]
C4039246
UMLS CUI [1,6]
C0018823
UMLS CUI [1,7]
C0011900
UMLS CUI [1,8]
C4071831
UMLS CUI [1,9]
C0018821
Inclusion criteria: Individuals must be 18 years old or older, with diagnosis of atrial fibrillation confirmed by ECG, who presented with symptoms or were diagnosed during routine physical examinations.
Description

Inclusion criteria: Individuals must be 18 years old or older, with diagnosis of atrial fibrillation confirmed by ECG, who presented with symptoms or were diagnosed during routine physical examinations.

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0001779
UMLS CUI [1,3]
C0004238
Criteria for Lone AF inclusion: Individuals must be 65 years or younger at the time of diagnosis, in the absence of coronary disease or valvular disease, hypertension, hyperthyroidism, diabetes mellitus, obstructive sleep apnea and body mass index must be under 30.
Description

Criteria for Lone AF inclusion: Individuals must be 65 years or younger at the time of diagnosis, in the absence of coronary disease or valvular disease, hypertension, hyperthyroidism, diabetes mellitus, obstructive sleep apnea and body mass index must be under 30.

Data type

boolean

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1298908
UMLS CUI [1,3]
C1956346
UMLS CUI [1,4]
C1298908
UMLS CUI [1,5]
C0018824
UMLS CUI [1,6]
C1298908
UMLS CUI [1,7]
C0020538
UMLS CUI [1,8]
C1298908
UMLS CUI [1,9]
C0020550
UMLS CUI [1,10]
C1298908
UMLS CUI [1,11]
C0011849
UMLS CUI [1,12]
C1298908
UMLS CUI [1,13]
C0037315
UMLS CUI [1,14]
C1305855
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Similar models

Eligibility Criteria

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Exclusion criteria: Individuals less than 18 years old, have no atrial fibrillation, have had a bone marrow transplant or cardiac transplant, or if atrial fibrillation was diagnosed within 90 days of cardiac surgery.
Item
Exclusion criteria: Individuals less than 18 years old, have no atrial fibrillation, have had a bone marrow transplant or cardiac transplant, or if atrial fibrillation was diagnosed within 90 days of cardiac surgery.
boolean
C0680251 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
C1298908 (UMLS CUI [1,3])
C0004238 (UMLS CUI [1,4])
C4039246 (UMLS CUI [1,5])
C0018823 (UMLS CUI [1,6])
C0011900 (UMLS CUI [1,7])
C4071831 (UMLS CUI [1,8])
C0018821 (UMLS CUI [1,9])
Inclusion criteria: Individuals must be 18 years old or older, with diagnosis of atrial fibrillation confirmed by ECG, who presented with symptoms or were diagnosed during routine physical examinations.
Item
Inclusion criteria: Individuals must be 18 years old or older, with diagnosis of atrial fibrillation confirmed by ECG, who presented with symptoms or were diagnosed during routine physical examinations.
boolean
C1512693 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
C0004238 (UMLS CUI [1,3])
Criteria for Lone AF inclusion: Individuals must be 65 years or younger at the time of diagnosis, in the absence of coronary disease or valvular disease, hypertension, hyperthyroidism, diabetes mellitus, obstructive sleep apnea and body mass index must be under 30.
Item
Criteria for Lone AF inclusion: Individuals must be 65 years or younger at the time of diagnosis, in the absence of coronary disease or valvular disease, hypertension, hyperthyroidism, diabetes mellitus, obstructive sleep apnea and body mass index must be under 30.
boolean
C0001779 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C1956346 (UMLS CUI [1,3])
C1298908 (UMLS CUI [1,4])
C0018824 (UMLS CUI [1,5])
C1298908 (UMLS CUI [1,6])
C0020538 (UMLS CUI [1,7])
C1298908 (UMLS CUI [1,8])
C0020550 (UMLS CUI [1,9])
C1298908 (UMLS CUI [1,10])
C0011849 (UMLS CUI [1,11])
C1298908 (UMLS CUI [1,12])
C0037315 (UMLS CUI [1,13])
C1305855 (UMLS CUI [1,14])
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