Heart Diseases
We've all heard someone comment that "it runs in the family" when talking about high blood pressure and heart attacks. Inherited heart conditions and/or disorders can affect people of any age and can be life threatening. For many families, the first sign there's a problem is when someone dies suddenly with no obvious cause or explanation. When a family member is diagnosed with heart disease or a heart disorder, other family members are encouraged to undergo screening for risk factors and early stage disease that may not yet produce symptoms.
Genetics can influence the risk for heart disease in many ways. Genes control every aspect of the cardiovascular system ranging from the how strong our blood vessels are to the way each cells in the heart communicates with one another. It's well understood that even a single gene change or mutation can affect the likelihood of developing heart disease. For example, a genetic variation can change the way a particular protein works so that the body processes cholesterol differently, increasing the likelihood of blocked arteries. If a defect is found in connective tissue, like in Marfan syndrome, the heart will likely be affected as it is comprised of connective tissue.
There are a number of inherited disorders that can cause rhythm disturbances and sudden cardiac death. Some of these are very rare.
- 1p36 deletion syndrome - See Chromosome 1p36 deletion syndrome
- 22q11.2 deletion syndrome
- acid maltase deficiency - See Pompe disease
- AGL deficiency - See Glycogen storage disease type III
- Alpha-Galactosidase A deficiency - See Fabry disease
- Alstrom syndrome
- Amylo-1,6-glucosidase deficiency - See Glycogen storage disease type III
- Andersen-tawil syndrome
- Anderson-Fabry disease - See Fabry disease
- Angiokeratoma corporis diffusum - See Fabry disease
- Barth syndrome
- CHARGE syndrome
- Chromosome 1p36 deletion syndrome
- Cori disease - See Glycogen storage disease type III
- Fabry - See Fabry disease
- Fabry disease
- Familial thoracic aortic aneurysm type 6
- Forbes disease - See Glycogen storage disease type III
- Friedreich ataxia
- Gaucher disease
- GLA deficiency - See Fabry disease
- Glutaric acidemia type 2
- glycogen storage disease II - See Pompe disease
- Glycogen storage disease IIIa - See Glycogen storage disease type III
- Glycogen storage disease IIIb - See Glycogen storage disease type III
- Glycogen Storage Disease IV
- Glycogen storage disease type III
- GSD 3 - See Glycogen storage disease type III
- GSD III - See Glycogen storage disease type III
- Leber hereditary optic neuropathy
- LGMD - See Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy
- Male Turner syndrome - See Noonan syndrome
- Myotonic Dystrophy
- Noonan syndrome
- Pompe disease
- Turner syndrome
- Turner-like syndrome - See Noonan syndrome
- Ullrich-Noonan syndrome - See Noonan syndrome
- Williams Syndrome
