Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":11,"sourceGroups":{"omim":4,"orphanet":7,"published":0}},"features":[{"hpoId":"HP:0001681","label":"Angina pectoris","primary":false},{"hpoId":"HP:0011675","label":"Arrhythmia","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0000822","label":"Hypertension","primary":false},{"hpoId":"HP:0004950","label":"Peripheral arterial stenosis","primary":false},{"hpoId":"HP:0004415","label":"Pulmonary artery stenosis","primary":false},{"hpoId":"HP:0001642","label":"Pulmonic stenosis","primary":false},{"hpoId":"HP:0004381","label":"Supravalvular aortic stenosis","primary":false},{"hpoId":"HP:0001279","label":"Syncope","primary":false},{"hpoId":"HP:0031664","label":"Systolic heart murmur","primary":false}],"ledeHtml":"Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.","mondoId":"MONDO:0008504","records":[{"frequencyKind":"range","key":"099b7ca60b4cab4f42f4a80aa2d89f1252a5c4b1067d8be23ace7d41dccb76df","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:3193","disease_name":"Supravalvular aortic stenosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001279","is_excluded":false,"label":"Syncope","onset_id":null,"reference":"ORPHA:3193","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"22527f8ecf547fcc99df6c2146b22e8d49a90f38eccc4e7626e9591a863e5c4b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:3193","disease_name":"Supravalvular aortic stenosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031664","is_excluded":false,"label":"Systolic heart 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Mutations in the ELN gene cause SVAS. The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Elastic fibers are found in the intricate lattice that forms in the spaces between cells (the extracellular matrix), where they give structural support to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels. Elastic fibers make up approximately 50 percent of the aorta, the rest being primarily muscle cells called vascular smooth muscle cells that line the aorta. Together, elastic fibers and vascular smooth muscle cells provide flexibility and resilience to the aorta.
Most of the ELN gene mutations that cause SVAS lead to a decrease in the production of tropoelastin. A shortage of tropoelastin reduces the amount of mature elastin protein that is processed and available for forming elastic fibers. As a result, elastic fibers that make up the aorta are thinner than normal. To compensate, the smooth muscle cells that line the aorta increase in number, making the aorta thicker and narrower than usual. A thickened aorta is less flexible and resilient to the stress of constant blood flow and pumping of the heart. Over time, the wall of the aorta can become damaged. Aortic narrowing causes the heart to work harder to pump blood through the aorta, resulting in the signs and symptoms of SVAS.
","key":"forms","title":"What causes Supravalvular aortic stenosis?"},{"bodyHtml":"The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"supravalvular-aortic-stenosis","sourceDocuments":[{"name":"Supravalvular aortic stenosis","reviewed":"2012-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:21.685532+00:00","label":"Causes","pageSha256":"c42c9bfa3c4708fcb3c9ffe3742c2af42e89c14eb267f1968f02e27ae071a38c","sourceUrl":"https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Supravalvular aortic stenosis"},"schemaVersion":1}