Clinical trial NCT06001957: Whole Exome Sequencing in Coronary Artery Ectasia
Official title: Genetic Background Assessment With Whole Exome Sequencing in a Giant Coronary Artery Ectasia: a Pilot Study.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Coronary Ectasia
Coronary Aneurysm
Keywords: Coronary ectasia
Coronary aneurysm
Whole exome sequencing
Mutations
Lead sponsor: Jagiellonian University
Sponsor class: OTHER
Collaborators: name: Medical University of Warsaw
name: Poznan University of Medical Sciences
First posted: 2023-08-21
Enrollment: 1
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient with extremely giant coronary artery ectasia (CAE) and positive family history.

Brief 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

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: The novel pathogenic mutations associated with CAE development
timeFrame: Until June 11, 2023
Secondary outcomes:
Other outcomes:
Locations:
city: Kraków
country: Poland
facility: Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College
Study officials:
References: