Whole Exome Sequencing in Coronary Artery Ectasia

Coronary Aneurysm Clinical Trial

Official title:

Genetic Background Assessment With Whole Exome Sequencing in a Giant Coronary Artery Ectasia: a Pilot Study.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT06001957
• Other study ID #: 1072.6120.49.2022
• Status: Completed
• Start date: March 23, 2022
• Est. completion date: August 15, 2023

Study information

• Verified date: August 2023
• Source: Jagiellonian University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1
• Est. completion date: August 15, 2023
• Est. primary completion date: June 11, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

Inclusion Criteria:

• diagnosed giant coronary artery aneurysm and ectasia (CAAE)

• high risk of genetic background

Exclusion Criteria:

• the lack of informed consent for whole exome sequencing (WES) analysis

Related Conditions & MeSH terms

• Aneurysm
• Coronary Aneurysm

Intervention

Diagnostic Test:
• Whole exome sequencing
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.

Locations

Country	Name	City	State
Poland	Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College	Kraków

Sponsors (3)

Lead Sponsor	Collaborator
Jagiellonian University	Medical University of Warsaw, Poznan University of Medical Sciences

Country where clinical trial is conducted

Poland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The novel pathogenic mutations associated with CAE development	Reads of WES will be aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.	Until June 11, 2023