ID

45475

Description

Principal Investigator: Ray E Hershberger, The Ohio State University, Columbus, OH, USA MeSH: Cardiomyopathy, Dilated,Familial dilated cardiomyopathy,Idiopathic dilation cardiomyopathy https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000581 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. The goals for this project are to conduct exome sequencing for novel dilated cardiomyopathy (DCM) gene discovery in families with DCM. These families have already been sequenced for 15 DCM genes, accounting for approximately 75% of known genetic cause, without rare coding variants identified.

Link

dbGap study = phs000581

Keywords

  1. 10/26/22 10/26/22 - Simon Heim
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

Ray E Hershberger, The Ohio State University, Columbus, OH, USA

Uploaded on

December 13, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000581 NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy)

Eligibility Criteria

Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Diagnostic criteria for affected status are based upon the presence of left ventricular enlargement (LVE) and systolic dysfunction (left ventricular ejection fraction (LVEF) >0.50), after excluding confounders, congruent with the recommendations of the European working group and our previous extensive experience. We most commonly use an echocardiographic (echo)-derived left ventricular end-diastolic dimension (LVEDD) to determine LVE, where the LVEDD is derived from sex- and height-specific partitioning values from the Framingham study. We also note that some FDC families present with prominent conduction system disease (e.g., LMNA or SCN5A mutations), and in such cases it may be appropriate to use additional diagnostic criteria for affected status as was done by Olson and colleagues for SCN5A mapping and as recommended by the European working group.
Description

Diagnostic criteria for affected status are based upon the presence of left ventricular enlargement (LVE) and systolic dysfunction (left ventricular ejection fraction (LVEF) >0.50), after excluding confounders, congruent with the recommendations of the European working group and our previous extensive experience. We most commonly use an echocardiographic (echo)-derived left ventricular end-diastolic dimension (LVEDD) to determine LVE, where the LVEDD is derived from sex- and height-specific partitioning values from the Framingham study. We also note that some FDC families present with prominent conduction system disease (e.g., LMNA or SCN5A mutations), and in such cases it may be appropriate to use additional diagnostic criteria for affected status as was done by Olson and colleagues for SCN5A mapping and as recommended by the European working group.

Data type

boolean

Alias
UMLS CUI [1,1]
C2675972
UMLS CUI [1,2]
C0205091
UMLS CUI [1,3]
C5232641
UMLS CUI [1,4]
C0013516
UMLS CUI [1,5]
C1142231
UMLS CUI [2,1]
C0340427
UMLS CUI [2,2]
C2322232
UMLS CUI [2,3]
C1524062
UMLS CUI [2,4]
C2322256

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Diagnostic criteria for affected status are based upon the presence of left ventricular enlargement (LVE) and systolic dysfunction (left ventricular ejection fraction (LVEF) >0.50), after excluding confounders, congruent with the recommendations of the European working group and our previous extensive experience. We most commonly use an echocardiographic (echo)-derived left ventricular end-diastolic dimension (LVEDD) to determine LVE, where the LVEDD is derived from sex- and height-specific partitioning values from the Framingham study. We also note that some FDC families present with prominent conduction system disease (e.g., LMNA or SCN5A mutations), and in such cases it may be appropriate to use additional diagnostic criteria for affected status as was done by Olson and colleagues for SCN5A mapping and as recommended by the European working group.
Item
Diagnostic criteria for affected status are based upon the presence of left ventricular enlargement (LVE) and systolic dysfunction (left ventricular ejection fraction (LVEF) >0.50), after excluding confounders, congruent with the recommendations of the European working group and our previous extensive experience. We most commonly use an echocardiographic (echo)-derived left ventricular end-diastolic dimension (LVEDD) to determine LVE, where the LVEDD is derived from sex- and height-specific partitioning values from the Framingham study. We also note that some FDC families present with prominent conduction system disease (e.g., LMNA or SCN5A mutations), and in such cases it may be appropriate to use additional diagnostic criteria for affected status as was done by Olson and colleagues for SCN5A mapping and as recommended by the European working group.
boolean
C2675972 (UMLS CUI [1,1])
C0205091 (UMLS CUI [1,2])
C5232641 (UMLS CUI [1,3])
C0013516 (UMLS CUI [1,4])
C1142231 (UMLS CUI [1,5])
C0340427 (UMLS CUI [2,1])
C2322232 (UMLS CUI [2,2])
C1524062 (UMLS CUI [2,3])
C2322256 (UMLS CUI [2,4])

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