Cardiovascular

Congenital Heart Disease

Congenital Heart Disease are frequently reported in individuals with Chromosome 8p Disorders.

Understanding Congenital Heart Disease

Congenital Heart Disease, also known as Congenital Heart Defects, refers to one or more structural conditions present in the heart at birth.

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. 

8p Hero Insights

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: Dextraposition 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.

Management and Care Recommendations

8p Hero’s should receive an Echocardiogram to assess for congenital heart disease. 

If abnormalities are found they should be referred to a cardiologist. 

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.