Three novel ATG16L1 mutations in a patient with acute myocardial infarction and coronary artery ectasia

Abstract

Introduction: Acute myocardial infarction (AMI) is a specific type of coronary artery disease (CAD) caused by the rupture of coronary atherosclerotic plaques. Coronary artery ectasia (CAE) is a rare phenotype of cardiovascular disease that may promote thrombosis and inflammatory responses leading to myocardial infarction due to abnormal dilatation of blood vessels and coronary blood flow disorders. It is a complicated disease and shows interaction between genetic and environmental factors. Patient concerns: A 34-year-old male patient was admitted to our hospital on May 12, 2016, with complaints of chest pain for 1 hour duration. Diagnosis: Coronary angiography through the emergency medical service (EMS) system showed 100% occlusion at the first turning point of the right coronary artery (RCA), along with tumor-like expansion of the proximal segment of the RCA and the end of the left main (LM) artery. The patient was diagnosed with AMI and CAE. Three-point mutations in the ATG16L1 gene were identified by direct sequencing. Interventions: After admission, the patient underwent emergency green channel coronary angiography and percutaneous coronary intervention (PCI) to assess and unblock the stenosis and occlusion of the RCA lumen, but no stenting was performed because the catheter could not pass the second inflection point of the RCA. Aspirin enteric-coated tablets, clopidogrel sulfate tablets, tirofiban hydrochloride, and low molecular weight heparin calcium were given as anticoagulant and antiplatelet therapy. Atorvastatin calcium tablets were used to regulate blood lipid levels. Perindopril and spironolactone were used to inhibit the renin-angiotensin-aldosterone system (RAAS) to reverse myocardial remodeling. Acetylcholinesterase inhibitors (ACEI) and beta blockers were administered to resist ventricular remodeling and improve cardiac function and prognosis after the patient's blood pressure and heart rhythm were stabilized. Outcomes: After active rescue treatment, the patient recovered and was discharged. A coronary angiogram performed 2 years later showed that the RCA blood flow was restored, and the patient had recovered well. Conclusion: Three-point mutations in the ATG16L1 gene were identified in a patient with AMI and CAE, which extended the mutation spectrum of the ATG16L1 gene. Hence, the etiology of coronary artery aneurysmal dilatation is worthy of further investigation.

Comparative Genetic Analysis of the Promoters of the ATG16L1 and ATG5 Genes Associated with Sporadic Parkinson’s Disease

“…Furthermore, three mutations (rs1816753, rs12476635, and rs2289477), the first two of which are within the gene promoter, as also found in this study, were identified in a patient with acute myocardial infarction (AMI) and coronary artery ectasia (CAE). These two mutations may promote thrombosis and inflammatory responses due to abnormal dilatation of blood vessels [44]. Additionally, other gene polymorphisms have been related to carotid atherosclerotic plaques, cancer, and susceptibility to infections [45][46][47][48].…”

“…However, as stated by Pascale et al [52], the main limitation of this study was the small sample size; therefore, the results should be interpreted with caution until further studies with larger series of patients shed more light on the importance of specific haplotypes in sporadic PD. However, case studies highlight the importance of reporting the association between haplotypes and sporadic PD [44].…”

Pharmacologic Management of Coronary Artery Ectasia

“…According to another theory, increased nitric oxide (NO) levels can cause vasodilation and relaxation of ectatic areas [10]. Genetic factors such as angiotensin-converting enzyme DD genotype polymorphism [11], abnormal lipoprotein metabolism associated with familial hypercholesterolemia [12], potassium voltage-gated channel subfamily H member 1 (KCNH1) mutation [13], and autophagy related 16 like 1 (ATG16L1) gene mutations [14] have all been linked to CAE previously.…”