Living with Pericardial and diaphragmatic defect
A rare condition present from birth with a missing heart lining and a defect in the diaphragm that affects breathing.
Understanding Pericardial and diaphragmatic defect
The diaphragm is the muscle that helps with breathing. In this condition, part of it is missing on the left side, and the heart's lining is partly absent. Babies may have trouble breathing and underdeveloped lungs. Signs are noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing part of the left diaphragm
- Partly missing heart lining (pericardium)
- Low blood oxygen
- Breathing trouble in newborns
- Underdeveloped lungs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pericardial and diaphragmatic defect syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pericardial and diaphragmatic defect.
Explore research for Pericardial and diaphragmatic defect
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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