This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Left ventricular hypertrophy | 0001712 | |
| 30%-79% of people have these symptoms | ||
| Atrial fibrillation |
Quivering upper heart chambers resulting in irregular heartbeat
|
0005110 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Dyspnea |
Trouble breathing
|
0002094 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Reduced ejection fraction | 0012664 | |
| Right ventricular dilatation | 0005133 | |
| 5%-29% of people have these symptoms | ||
| Abnormal circulating creatine kinase concentration |
Abnormal levels of creatine kinase in blood
|
0040081 |
| Cough |
Coughing
|
0012735 |
| Elevated pulmonary artery pressure |
increased pulmonary artery pressure
|
0004890 |
| Left bundle branch block | 0011713 | |
| Mitral regurgitation | 0001653 | |
| Palpitations |
Missed heart beat
Skipped heart beat
[ more ]
|
0001962 |
| Ventricular arrhythmia | 0004308 | |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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