Background: Coronary arteries originate from the first portion of the aorta, emerging from the right and left aortic sinuses. They traverse through the subepicardium and coronary sulcus to supply the myocardium during diastolic function. The objective of this review was to understand how the hypoplasia and agenesis of the coronary arteries are associated with cardiac pathologies. Methods: The databases Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS were researched until January 2024. An assurance tool for anatomical studies (AQUA) was used to evaluate methodological quality. The pooled prevalence was estimated using a random effects model. Results: A total of three studies met the established selection criteria for inclusion in this meta-analysis. The prevalence of coronary artery variants was 3% (CI = 2% to 8%), with a heterogeneity of 77%. The other studies were analyzed descriptively, along with their respective clinical considerations in the presence of the variant. Conclusions: Hypoplasia and the congenital absence of the coronary arteries are often incidental findings and understanding these variants is crucial to prevent misdiagnosis. Additionally, it is essential to exercise caution when considering surgical management for hearts with these variants.

Background and Objectives: Coronary artery anomalies (CAAs) represent a group of rare cardiac abnormalities with an incidence of up to 1.2%. The aim of this retrospective study was to conduct a comprehensive epidemiological assessment of the prevalence of hypoplastic coronary arteries using coronary computed tomography angiography (CCTA) in patients with diagnosed CAAs and individuals presenting with cardiovascular manifestations in the north-eastern region of Romania. This study was motivated by the limited investigation of the CAAs conducted in this area. Methods: We analyzed data collected from 12,758 coronary computed tomography angiography (CCTA) records available at the "Prof. Dr. George I.M. Georgescu" Cardiovascular Diseases Institute, spanning the years 2012 to 2022. Results: Among 350 individuals with CAAs (2.7% of the total cohort), 71 patients (20.3% of the anomaly presenting group and 0.5% of the entire CCTA cohort) exhibited at least one hypoplastic coronary artery. The mean age of individuals diagnosed with hypoplastic coronary artery disease (HCAD) was 61 years, while the age distribution among them ranged from 22 to 84 years. Nearly equal cases of right and left dominance (33 and 31, respectively) were observed, with only 7 cases of co-dominance. Conclusions: HCAD may be considered underexplored in current published research, despite its potentially significant implications ranging to an increased risk of sudden cardiac arrest. The specific prevalence of HCAD among CAAs might be higher than previously reported, possibly reflecting better diagnostic accuracy of CCTA over classic coronary imaging. The absence of standard diagnostic and therapeutic protocols for HCAD underscores the necessity of a personalized approach for such cases.

A right single coronary artery (SCA) and hypoplastic coronary disease represent a rare coronary artery anomaly, which is associated with sudden cardiac death. The clinical manifestations of these anomalies depend on the distribution of collateral vessels.

A 55-year-old female presented with dyspnoea, mild chest pain during physical activity, and palpitations. Selective coronary angiography revealed a prominent SCA originating from the right coronary sinus. Approximately 2 mm from the ostium, this artery branched into two: a dominant right coronary artery (RCA) and a smaller artery for the anterior wall perfusion. The dominant RCA then moved posteriorly, bifurcating into a posterior descending artery and a posterolateral artery. The latter occupied the expected location of the left circumflex artery and supplied the majority of the coronary circulation, including the left ventricle. Notably, there were no significant atherosclerotic calcifications or stenoses observed.

We describe a unique case of a SCA that doesn't conform to any category within the modified Lipton's classification. Symptoms are speculated to arise from the compression of the SCA between the aorta and pulmonary artery during physical exertion. Additionally, hypoperfusion from the hypoplastic left coronary branch in the anterior wall warrants consideration. It's paramount to meticulously evaluate the risk of sudden cardiac death when treating patients with a SCA. For high-risk patients, coronary artery bypass grafting should be contemplated.For our patient, given the clinical context, pharmacological treatment optimization was chosen.

Coronary artery anomalies (CAAs) comprise a wide spectrum of anatomic entities, with diverse clinical phenotypes. We present a case of an anomalous right coronary artery arising from the left aortic sinus with an interarterial course, a potentially fatal condition that can precipitate ischemia and sudden cardiac death. CAAs are increasingly detected in adults, mostly as incidental findings in the course of cardiac evaluation. This is due to the expanding use of invasive and noninvasive cardiac imaging, usually in the work-up for possible CAD. The prognostic implications of CAAs in this group of patients remain unclear. In AAOCA patients, appropriate work-up with anatomical and functional imaging should be performed for risk stratification. An individualized approach to management should be adopted, considering symptoms, age, sporting activities and the presence of high-risk anatomical features and physiologic consequences (such as ischemia, myocardial fibrosis, or cardiac arrhythmias) detected on multimodality imaging or other functional cardiac investigations. This comprehensive and up to date review seeks to crystallize current data in the recent literature, and proposes a clinical management algorithm for the clinician faced with the conundrum of managing such conditions.

Hypoplastic coronary artery disease (HCAD) is a rare coronary artery anomaly that may be the cause of sudden death. It can involve a single or all coronary arteries. This anomaly may cause circulatory insufficiency leading to myocardial infarction. HCAD has no symptoms or may exhibit cardiovascular signs like syncope, dyspnea, chest discomfort, or dizziness. It is often diagnosed at autopsy, and early diagnosis is made with a coronary angiogram. We report HCAD as the cause of the sudden death of a 25-year-old female with a history of loss of consciousness following exertion. On autopsy, all the coronary arteries' lumen was narrowed with thin vessel walls. Histopathological examination shows an underdeveloped and missing muscular layer of the left anterior descending and circumflex coronary arteries' vascular wall. Many cases of HCAD diagnosed by radiographic imaging in living patients have been reported in the literature, but a structural anomaly of coronaries leading to HCAD has not been reported. We report a case of HCAD describing the histopathological examination findings of the vascular wall of coronary vessels illustrating the structural difference.

Hypoplastic coronary artery disease is a rare congenital anomaly that may present with ischaemic heart disease, heart failure or sudden cardiac death (SCD). We describe a case of cardiac arrest in a healthy young man. Work-up revealed a hypoplastic left anterior descending artery. The patient underwent cardioverter-defibrillator implantation for secondary prevention.

Hypoplastic coronary artery disease (HCAD) is a rare cause of cardiac arrest and should be suspected in cases of sudden cardiac death (SCD) in young adults.The mechanism in HCAD leading to ventricular fibrillation cardiac arrest is not well understood.Implantable cardioverter-defibrillator (ICD) implantation is recommended for secondary prevention of ventricular fibrillation.

Coronary artery abnormalities are usually of major significance in clinical cardiology and cardiac surgery departments due to associated myocardial ischemia, myocardial infarction, and sudden cardiac death. Among them, anatomical malformations account for most coronary artery abnormalities. However, hypoplasia of the coronary artery is a rare type of coronary artery without any genetic screening information.

A 10-year-old boy suffered severe chest pain, and a subsequent syncope occurred.

The boy complained of significant chest pain with syncope. Computerized tomography (CT) angiography scanning showed that the left coronary artery was dominated by abnormal origins and dramatically narrow artery lesions. Moreover, cardiac magnetic resonance imaging (MRI) confirmed myocardial ischemia. Cardiac catheterization confirmed that this was an extremely rare hypoplastic coronary case. Finally, a mutation was identified in NOTCH1 c.1023C>A for the first time.

The boy was discharged after completing all examinations and was forbidden to play any kind of sport activity while waiting for heart transplantation.

Hypoplastic coronary artery diseases have only been reported within very limited cases. This is the only report that has identified hypoplasia in 3 epicardial major coronary arteries. In addition, this is the first case to provide evidence between NOTCH1 genetic disorder and hypoplastic coronary artery disease in the clinic.

Congenital coronary artery anomalies are estimated to affect about 1% of the general population. Hypoplastic coronary artery disease is an uncommon subset associated with significant mortality regardless whether another major cardiac anomaly is present. In this case report, we present an extremely rare case of an infant with hypoplastic coronary artery disease and hypoplastic pulmonary veins. A literature review pertinent to the clinical findings is also contained herein.

Endothelial nitric oxide synthase (eNOS) and oxidative stress are critical to embryonic coronary artery development. Maternal diabetes increases oxidative stress and reduces eNOS activity in the fetal heart. Sapropterin (Kuvan®) is an orally active, synthetic form of tetrahydrobiopterin (BH4) and a co-factor for eNOS with antioxidant properties. The aim of the present study was to examine the effects of sapropterin on fetal coronary artery development during pregestational diabetes in mice. Diabetes was induced by streptozotocin to adult female C57BL/6 mice. Sapropterin (10 mg/kg/day) was orally administered to pregnant mice from E0.5 to E18.5. Fetal hearts were collected at E18.5 for coronary artery morphological analysis. Sapropterin treatment to diabetic dams reduced the incidence of coronary artery malformation in offspring from 50.0% to 20.6%. Decreases in coronary artery luminal diameter, volume and abundance in fetal hearts from diabetic mothers, were prevented by sapropterin treatment. Maternal diabetes reduced epicardial epithelial-to-mesenchymal transition (EMT) and expression of transcription and growth factors critical to coronary artery development including hypoxia-inducible factor 1a (Hif1a), Snail1, Slug, β-catenin, retinaldehyde dehydrogenase 2 (Aldh1a2), basic fibroblast growth factor (bFGF) and vascular endothelial group factor receptor 2 (Vegfr2) in E12.5 hearts. Additionally, eNOS phosphorylation was lower while oxidative stress was higher in E12.5 hearts from maternal diabetes. Notably, these abnormalities were all restored to normal levels after sapropterin treatment. In conclusion, sapropterin treatment increases eNOS activity, lowers oxidative stress and reduces coronary artery malformation in offspring of pregestational diabetes. Sapropterin may have therapeutic potential in preventing coronary artery malformation in maternal diabetes.

Hypoplastic coronary artery disease is a rare congenital abnormality reported to be associated with myocardial infarction and sudden cardiac death. Provoked positive spasm in the left circumflex coronary artery (LCX) with pharmacological spasm provocation tests was remarkably lower than other coronary arteries. We sometimes encountered patients with rest angina and hypoplastic right coronary artery (H-RCA). Among 5953 patients with diagnostic and follow-up coronary arteriography, we found 93 patients (1.6%) with H-RCA. During the same period, we could perform spasm provocation tests in 564 patients with rest angina including 13 patients with H-RCA and 249 patients with effort angina including 10 patients with H-RCA. Pharmacological spasm provocation tests were performed in 51 of 93 patients including 34 patients with ischemic heart disease (IHD) and 17 patients with non-IHD. Provoked spasm incidence in patients with IHD was higher than in those with non-IHD but not significant (52.9% vs. 29.4%, p = 0.1114). Provoked positive spasm in the LCX in patients with rest angina and H-RCA was significantly higher than that in those without H-RCA (69.2% vs. 23.4%, p < 0.001). Provoked spasm on both left anterior descending artery and LCX in patients with rest angina and H-RCA was also remarkably higher than in those without H-RCA (53.8% vs. 3.1%, p < 0,001). There were no clinical differences between patients with and without H-RCA rest angina. Two-vessel spasm (61.5% vs. 0%, p < 0.01) and LCX-provoked spasm (69.2% vs. o%, p < 0.01) were significantly higher in patients with H-RCA and rest angina than that in those with H-RCA and effort angina. In patients with rest angina and H-RCA, LCX-positive spasm was significantly higher and these patients may have a potential of high disease activity in the clinic as a coronary spastic angina.

Coronary artery anomalies and variants are relatively uncommon congenital disorders of the coronary artery anatomy and constitute the second most common cause of sudden cardiac death in young competitive athletes. The rapid advancement of imaging techniques, including computed tomography, magnetic resonance imaging, intravascular ultrasound and optical coherence tomography, have provided us with a wealth of new information on the subject. Anomalous origin of a coronary artery from the contralateral sinus is the anomaly most frequently associated with sudden cardiac death, in particular if the anomalous coronary artery has a course between the aorta and the pulmonary artery. However, other coronary anomalies, like anomalous origin of the left coronary artery from the pulmonary artery, atresia of the left main stem and coronary fistulae, have also been implicated in cases of sudden cardiac death. Patients are usually asymptomatic, and in most of the cases, coronary anomalies are discovered incidentally during coronary angiography or on autopsy following sudden cardiac death. However, in some cases, symptoms like angina, syncope, heart failure and myocardial infarction may occur. The aims of this article are to present a brief overview of the diverse coronary variants and anomalies, focusing especially on anatomical features, clinical manifestations, risk of sudden cardiac death and pathophysiologic mechanism of symptoms, as well as to provide valuable information regarding diagnostic workup, follow-up, therapeutic choices and timing of surgical treatment.

Hypoplastic coronary artery disease is a rare condition that may lead to myocardial infarction and sudden death. Here we describe for the first time an isolated hypoplasia of the left circumflex artery (LCX). An otherwise healthy and athletically active 16-year-old boy was admitted to the intensive care unit (ICU) after out-of-hospital cardiac arrest. He died 12 hours after the initial event. Autopsy revealed an isolated hypoplastic LCX and acute haemorrhagic infarction in the posterolateral myocardium. The existence of isolated hypoplasia of the LCX challenges our understanding of coronary artery development. Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1558483061962648.