About the Diagnosis
Learn about Congenital Heart Disease and Illyana's specific conditions.
What is CHD?
Congenital Heart Disease
Congenital Heart Disease (CHD) refers to heart problems that develop before birth. These structural abnormalities can affect the heart's walls, valves, or blood vessels. CHD is the most common type of birth defect, affecting about 1 in every 100 babies born.
Some CHDs are simple and may not need treatment, while others are complex and require multiple surgeries over a lifetime. With advances in medical care, many children with CHD can live full, active lives.
Illyana's Conditions
Tetralogy of Fallot (TOF)
A rare condition caused by a combination of four heart defects present at birth.
Key Characteristics
- Ventricular septal defect (VSD) – a hole between the heart's lower chambers
- Pulmonary stenosis – narrowing of the pulmonary valve and artery
- Overriding aorta – the aorta sits over the VSD
- Right ventricular hypertrophy – thickened right ventricle wall
Illyana has TOF with Absent Pulmonary Valve, a rare variant where the pulmonary valve is missing or severely underdeveloped.
22q11.2 Deletion Syndrome
Also known as DiGeorge syndrome, caused by a missing piece of chromosome 22.
Key Characteristics
- Heart defects (often conotruncal defects like TOF)
- Immune system problems
- Characteristic facial features
- Learning difficulties and developmental delays
- Calcium regulation issues
- Feeding and swallowing difficulties
This genetic condition affects multiple body systems and requires coordinated care from various specialists.
Treatment & Management
Treatment for complex CHD typically involves a combination of approaches:
Surgical Repair
Open-heart surgery to correct structural defects
Medications
Heart medications to manage symptoms and support function
Ongoing Monitoring
Regular cardiology appointments and imaging
Resources & Links
CDC - Congenital Heart Defects
Official CDC information about CHD
National Library of Medicine
Research and medical literature
Conquering CHD
Advocacy and support for CHD families
22q Family Foundation
Resources for 22q11.2 deletion syndrome
MedlinePlus
Trusted health information
Mount Sinai - TOF
Medical center information
Have questions or want to connect with other CHD families?