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||
|80%-99% of people have these symptoms|
Decreased ability to exercise
Inability to exercise[ more ]
|Pulmonary arterial hypertension||
Increased blood pressure in blood vessels of lungs
|30%-79% of people have these symptoms|
Quivering upper heart chambers resulting in irregular heartbeat
Tiredness[ more ]
Low blood oxygen level
|Increased pulmonary vascular resistance||0005317|
Missed heart beat
Skipped heart beat[ more ]
|5%-29% of people have these symptoms|
Bloating[ more ]
|Abnormal B-type natriuretic
Accumulation of fluid in the abdomen
|Atrial septal defect||
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers[ more ]
|Atrioventricular canal defect||0006695|
Clubbing of fingers and toes
Blue discoloration of the skin
|Elevated jugular venous pressure||0030848|
Coughing up blood
Husky voice[ more ]
|Iron deficiency anemia||0001891|
|Patent ductus arteriosus||0001643|
Fluid accumulation in lower limbs
Lower leg swelling[ more ]
Difficulty breathing[ more ]
|Right bundle branch block||0011712|
|Right ventricular failure||0001708|
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
|1%-4% of people have these symptoms|
High blood uric acid level
|Increased mean corpuscular volume||0005518|
Renal failure in adulthood[ more ]
|Tetralogy of Fallot||0001636|
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include idiopathic pulmonary hypertension, tetralogy of Fallot, tricuspid atresia, transposition of the great arteries, persistent newborn pulmonary hypertension, pulmonary infection and respiratory failure.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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