Whole Exome Sequencing in Coronary Artery Ectasia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

1 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-03-23

Study Completion Date

2023-08-15

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

The goal of this observational study is to assess the role of the whole exome sequencing (WES) application in patients with giant coronary artery ectasia (CAE) with a high-risk of genetic background.

The main question it aims to answer are:

* the assessment of role of WES in CAE
* the detection of novel pathogenic mutations associated with CAE development

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Exome Sequencing Study in Cardiomyopathy to Identify New Risk Variants

NCT03754101

Cardiomyopathy

RECRUITING

Endothelial NO Synthase Polymorphic Gene in Coronary Artery Dilation Disease

NCT06220682

Coronary Artery Ectasia

COMPLETED

Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

NCT02256163

Thoracic Aortic Aneurysm

COMPLETED

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

NCT03440697

Aortopathies Thoracic Aortic Aneurysm Aortic Valve Disease +19 more

RECRUITING

Sudden Cardiac Arrest Related to Sport in Young and Value of the Genetic Assessment: a French Prospective Register

NCT06642168

Sudden Cardiac Arrest Sudden Cardiac Death

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Coronary artery aneurysm and ectasia (CAAE) is defined as a dilation of the coronary artery by at least 1.5 times compared to the adjacent segment. The incidence of CAAE is reported in 0.3-5.3% of patients undergoing coronary angiography. Giant CAAE is a rare phenomenon characterized by a dilation of a coronary artery exceeding 2 to 4 centimeters and it was found only in 0.02% of patients undergoing coronary angiography.

The most common etiology of CAAE is atherosclerosis, followed by Kawasaki disease, infectious septic emboli, connective tissue disease and arteritis. Iatrogenic causes are less common.

There are few genetic reports on potential loci associated with CAAE. Meta-analysis of genome wide association studies performed in European and Japanese population of children with Kawasaki disease has identified ITPKC, FCGR2A, CASP3 and FAM167A genomic regions to be associated with susceptibility to develop CAAE. Furthermore, 9p21 variant has been linked with coexistence of coronary artery disease, cerebral artery aneurysms and aortic aneurysms, mainly due to suspected potential adverse vascular remodeling. Nevertheless, the direct association of specific genetic variants with CAAE formation, especially with those giants, has not been proven.

Therefore, the investigators aim to assess the role of the whole exome sequencing (WES) application in patients with giant coronary artery ectasia (CAE) with a high-risk of genetic background.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Coronary Ectasia Coronary Aneurysm

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Proband

Patient with extremely giant coronary artery ectasia (CAE) and positive family history

Whole exome sequencing

Intervention Type DIAGNOSTIC_TEST

Bioinformatic analysis of raw WES data and variants prioritization were performed as previously described.

Reads were aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.