Aortic coarctation, also known as coarctation of the aorta, is a congenital heart condition characterized by a narrowing of a segment of the aorta, the main artery carrying blood from the heart to the body. This narrowing can disrupt normal blood flow and is associated with signs and symptoms such as hypertension, muscle weakness, shortness of breath, headaches, and leg cramps. The condition involves the cardiovascular system and is associated with multiple inheritance patterns, including multifactorial and autosomal dominant patterns. Population prevalence figures are not certified in this packet. The knowledge in this report reflects data as of September 9, 2026.

A defining feature of aortic coarctation is narrowing of the descending aortic arch, which is listed as an obligate finding. Abnormal left ventricular outflow tract morphology is very frequently observed. Frequently reported features include hypoplastic left heart, cardiomegaly, bicuspid aortic valve, and coronary artery atherosclerosis. Hypertension, congestive heart failure, patent ductus arteriosus, persistent left superior vena cava, perimembranous ventricular septal defect, and hypoplastic aortic arch are occasionally associated findings. Very rarely, stroke, tetralogy of Fallot, pulmonary arterial hypertension, and aortic valve atresia have been reported in association with this condition.

This packet does not provide a certified causative gene for aortic coarctation. One pathogenic or likely pathogenic variant has been reported in ClinVar, attributed to the ABCA2 gene; however, no certified gene-validity classification is available in this packet, and this packet does not certify ABCA2 as a causative gene for the condition. Multiple inheritance patterns have been reported for aortic coarctation, including multifactorial and autosomal dominant inheritance. Multifactorial inheritance involves contributions from both genetic and environmental factors, while autosomal dominant inheritance means a variant in one copy of a relevant gene may be sufficient to contribute to the condition.

Specific diagnostic methods for aortic coarctation are not certified in this packet. The condition is not included in newborn screening panels according to the information provided here. Diagnosis is generally informed by the clinical features associated with the condition, including the obligate finding of descending aortic arch narrowing and other cardiovascular findings described in the phenotype data. Diagnostic approaches, imaging studies, laboratory thresholds, and testing hierarchies are not detailed in the current knowledge packet. No certified GeneReviews diagnostic criteria are available in this packet.

Foundational therapies and FDA-approved treatments for aortic coarctation are not certified in this packet. No orphan drug designations are recorded for this condition in the available data. Treatment and management coverage is therefore unknown or uncertified based on the current packet. No patient assistance programs are certified in this packet. For information about current management approaches, clinical care teams with expertise in congenital heart disease may be involved, though specific specialist types are not detailed in this packet.

Natural history and prognosis data for aortic coarctation are not certified in this packet. No GeneReviews clinical description or natural history information is available to describe the disease course, trajectory, or long-term outcomes. As a result, statements about survival, disease progression, variability, or quality of life cannot be drawn from the current certified data. Prognosis is therefore not characterized in this report.

Several certified active trial records are present for aortic coarctation. These include a study on cardiovascular risk in children with chronic conditions (NCT07086989, Semmelweis University), a study examining integrated prenatal and postnatal treatment for newborns with critical congenital heart disease (NCT06768008, Beijing Anzhen Hospital), a post-approval study of the Minima Stent System (NCT06828770, Renata Medical), and an electronic archive study for patients with aortic coarctation diagnoses including prenatal cases (NCT06759103, IRCCS Azienda Ospedaliero-Universitaria di Bologna). Active clinical trials for this condition are listed on ClinicalTrials.gov.