Congenital Heart Disease
There are various types of congenital heart disease, and an individual may have more than one defect. The severity can range from no symptoms or mild symptoms that don’t require treatment to serious conditions that require surgical intervention.
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of Congenital Heart Disease in individuals with chromosome 8p rearrangements is unknown, they are recognized as a common symptom. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- Children’s Hospital Colorado reports 55% of heroes who have attended their clinic had an abnormal echocardiogram.1
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 71% of 8p heroes had cardiac findings.2
Commonly reported congenital heart diseases (CHD) in 8p Heroes include: Atrial Septal Defects, Ventricular Septal Defects, Pulmonary Stenosis, Patent Foramen Ovale, and Patent Ductus Arteriosus.
Less commonly reported CHDs include: Dextroposition of the Great Arteries, Double Outlet Right Ventricle, Hypoplastic Right Heart, Coarctation of the Aorta, Aortic Stenosis, Aortic Regurgitation, Ascending Aorta Dilation, Mitral Valve Prolapse, and an Enlarged Heart.
Congenital heart disease in 8p Heroes with an inversion/duplication/deletion tends to be minor and often resolves spontaneously, in contrast to 8p Heroes with a deletion only, where the conditions may require more attention.2
8p Hero’s should receive an Echocardiogram to assess for congenital heart disease.
If abnormalities are found they should be referred to a cardiologist.
Some congenital heart defects in children are simple and don’t need treatment. Others are more complex. The child may need several surgeries done over a period of several years.
Providers should follow standard practices for managing Congenital Heart Disease in individuals with a chromosome 8p disorder.
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
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- Commonly reported congenital heart diseases (CHD) in 8p Heroes include: Atrial Septal Defects, Ventricular Septal Defects, Pulmonary Stenosis, Patent Foramen Ovale, and Patent Ductus Arteriosus.
- Less commonly reported CHDs include: Dextroposition of the Great Arteries, Double Outlet Right Ventricle, Hypoplastic Right Heart, Coarctation of the Aorta, Aortic Stenosis, Aortic Regurgitation, Ascending Aorta Dilation, Mitral Valve Prolapse, and an Enlarged Heart.
Congenital heart disease in 8p Heroes with an inversion/duplication/deletion tends to be minor and often resolves spontaneously, in contrast to 8p Heroes with a deletion, where the conditions may require more attention.
8p Hero’s should receive an Echocardiogram to assess for congenital heart disease.
If abnormalities are found they should be referred to a cardiologist.
Some congenital heart defects in children are simple and don’t need treatment. Others are more complex. The child may need several surgeries done over a period of several years.
Providers should follow standard practices for managing Congenital Heart Disease in individuals with a chromosome 8p disorder.
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf .
Other Cardiovascular Conditions
A form of high blood pressure that affects the arteries in the lungs and the right side of the heart. The symptoms typically develop gradually over time, and may go unnoticed for months or even years. As the condition worsens, the symptoms become more severe.
Abnormalities involving blood vessels that are usually present at birth but may not become noticeable until later in childhood or even adulthood. These malformations can occur anywhere in the body, from head to toe, and may present as a soft tissue mass, pain, swelling, and/or skin discoloration.
A condition where the heart rate exceeds 100 beats per minute. Symptoms may include palpitations, a fainting sensation, lightheadedness, loss of consciousness, dizziness, weakness, shortness of breath, and reduced exercise capacity.
- Mayo Clinic.Pulmonary Hypertension : Symptoms and Causes.
https//www.mayoclinic.org/diseases-conditions/pulmonary-hypertension/symptoms-causes/syc-20350697 - Cleveland Clinic.Vascular Malformations.
https://my.clevelandclinic.org/health/diseases/23409-vascular-malformations
- Mayo Clinic.Pulmonary Hypertension : Symptoms and Causes. https//www.mayoclinic.org/diseases-conditions/pulmonary-hypertension/symptoms-causes/syc-20350697
- Cleveland Clinic.Vascular Malformations. https://my.clevelandclinic.org/health/diseases/23409-vascular-malformations
Project 8p Insights Portal
To generate the visualization, please select at least one 8p genotype. You may choose multiple genotypes or select all to view insights from all 8p Heroes in the Chromosome 8p Registry.
This visualization is powered by research sponsored by Project 8p and survey data collected from the Chromosome 8p Registry, representing insights from a total of 120 8p heroes. It is part of the soon-to-launch Insights Portal, designed to offer advanced tools for data analysis, access, and visualizations, accelerating research and discovery for chromosome 8p disorders.
Last Updated 10/30/2024
