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":2,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":4,"sourceGroups":{"omim":0,"orphanet":0,"published":4}},"features":[{"hpoId":"HP:0001644","label":"Dilated cardiomyopathy","primary":false},{"hpoId":"HP:0032232","label":"Elevated circulating CK-MB concentration","primary":false},{"hpoId":"HP:0033755","label":"Increased left ventricular end-diastolic volume","primary":false},{"hpoId":"HP:0003557","label":"Increased variability in muscle fiber diameter","primary":false}],"ledeHtml":"X-linked dilated cardiomyopathy is a form of heart disease. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with X-linked dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly.","mondoId":"MONDO:0010542","records":[{"frequencyKind":"reported","key":"0330f3bbe819c52011d5f4487a3852ce6517ce135d16130b0b1eef833a262eb4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:302045","disease_name":"Cardiomyopathy, dilated, 3B","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"PMID:8361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"41768b7314fe1b439b81688dc02382aed5a4ccf570147afe8607b23ee43552e0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:302045","disease_name":"Cardiomyopathy, dilated, 3B","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0003557","is_excluded":false,"label":"Increased variability in muscle fiber diameter","onset_id":null,"reference":"PMID:8361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4e37436183b62e9de7da41e1c76ce9a3a647731690417c32579217db34923104","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:302045","disease_name":"Cardiomyopathy, dilated, 3B","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0033755","is_excluded":false,"label":"Increased left ventricular end-diastolic volume","onset_id":null,"reference":"PMID:8361506","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ad2b0a9a11ab489ce737a100e1943ea3af753d53d5f5aac94ccc6b175b5655e8","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:302045","disease_name":"Cardiomyopathy, dilated, 3B","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0032232","is_excluded":false,"label":"Elevated circulating CK-MB concentration","onset_id":null,"reference":"PMID:8361506","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"X-linked dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for X-linked dilated cardiomyopathy preferentially affect the activity of dystrophin in cardiac muscle cells. As a result of these mutations, affected individuals typically have little or no functional dystrophin in the heart. Without enough of this protein, cardiac muscle cells become damaged as the heart muscle repeatedly contracts and relaxes. The damaged muscle cells weaken and die over time, leading to the heart problems characteristic of X-linked dilated cardiomyopathy.
The mutations that cause X-linked dilated cardiomyopathy often lead to reduced amounts of dystrophin in skeletal muscle cells. However, enough of this protein is present to prevent weakness and wasting of the skeletal muscles.
Because X-linked dilated cardiomyopathy results from a shortage of dystrophin, it is classified as a dystrophinopathy.
","key":"forms","title":"What causes X-linked dilated cardiomyopathy?"},{"bodyHtml":"X-linked dilated cardiomyopathy is part of a spectrum of related conditions caused by mutations in the DMD gene. The other conditions in the spectrum, Duchenne and Becker muscular dystrophy, are characterized by progressive weakness and wasting of muscles used for movement (skeletal muscles) in addition to heart disease. People with X-linked dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Based on these skeletal muscle changes, X-linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-dilated-cardiomyopathy","sourceDocuments":[{"name":"X-linked dilated cardiomyopathy","reviewed":"2012-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:55.915790+00:00","label":"Causes","pageSha256":"4cf3856fec1f1c4c401bfba652f3f1e2fcaf5ca155ee069eae015860456a9498","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy"}],"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":"X-linked dilated cardiomyopathy"},"schemaVersion":1}