Term
| hypertrophic cardiomyopathies (HCMs) |
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Definition
A category of genetic heart diseases. A disease in which a portion of the myocardium (heart muscle) is hypertrophic (enlarged), creating functional impairment of the heart.
Usually autosomal dominant. |
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Term
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Definition
A category of genetic heart diseases. A disease of the aorta, but usually accompanied by other syndromic features.
Usually autosomal dominant. Marfan's syndrome is an example. |
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Term
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Definition
A category of genetic heart diseases. A disease caused by a disruption of the ion channels. An example is long-QT syndrome.
Frequently dominant. A common cause of sudden death. |
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Term
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Definition
A condition caused by the combination of four birth defects. The overall effect is that oxygen-poor blood flows out of the heart.
The four birth defects are:
1. Pulmonary valve stenosis (a narrowing of the pulmonary valve)
2. Ventricular septal defect (a hole in the ventral septal wall)
3. Overriding aorta (the aorta is in the middle of the heart)
4. Right ventricle hypertrophy (right ventricle has to work harder, becomes thicker and stiff)
About 12-15% of time associated with a genetic problem. Think 22q(DiGeorge). |
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Term
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Definition
| A type of ultrasound used to see the heart. |
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Term
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Definition
| A type of ultrasound used to see the velocity and pressure of the blood in the heart. |
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Term
| VSD (Ventral septal defect) |
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Definition
A hole in the ventral septal wall. A VSD doesn’t necessarily mean a genetic condition (they are very common), but any genetic condition can cause a VSD.
VSDs are the most often seen defect when a genetic condition is present. |
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Term
| ASD (Atrial septal defect) |
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Definition
| A hole in the atrial septal wall. Usually small. |
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Term
| Atrioventricular (AV) Canal Defect |
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Definition
A hole between all the heart’s chambers. Technically, it’s having both an ASD and VSD. But that means you just basically don’t have a full septum.
Very, very associated with a genetic cause. Think about Down Syndrome (or trisomy 13) |
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Term
| Pulmonary valve/artery stenosis |
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Definition
A stiffened and thickened pulmonary valve. This doesn’t allow blood to leave the heart to the pulmonary artery as easily.
This is very rare but very associated with Noonan and Williams syndrome. |
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Term
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Definition
| A larger aortic root. This is often found in Marfan syndrome. It is caused by not having enough fibrillin-1 protein. |
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Term
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Definition
| Instead of the mitral valve being even it prolapses back. This is something that can be found in Marfan syndrome. |
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Term
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Definition
| A protein important to the connective tissues. A mutation in this gene can cause Marfan syndrome. |
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Term
| What cardiac manifestations should you look out for when you see DiGeorge syndrome? |
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Definition
1. Aortic arch abnormalities (truncus arteriosus)
2. Tetrology of Fallot
3. VSD |
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Term
| What cardiac manifestations should you look out for when you see Down Syndrome? |
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Definition
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Term
| When (in cardiac genetics) should you order a microarray? |
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Definition
1. When there is an isolated heart defect that has a high "array yield" (so it is likely to indicate a genetic issue) such as tetrology of fallot, aortic arch abnormalities, or atrioventricular septal defects
2. When there is any heart defect and another suspicious feature (such as a cleft lip) |
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Term
| You see an atrioventricular (AV) canal defect. What is the best genetic test? |
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Definition
| A karyotype. AV canal defects are highly associated with Down Syndrome. While a microarray would pick this up, a karyotype will pick up a trisomy and let you know if there has been a rearrangement. |
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Term
| You see a dilated aortic root. What is the best genetic test? |
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Definition
| You think Marfan’s syndrome. Therefore, a single gene test for Fibrillin-1 is the best. |
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Term
| You see tetralogy of fallot. What is the best genetic test? |
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Definition
| A microarray. You think it’s probably DiGeorge -- that is often associated with tetralogy of fallot and a microarray would catch it. However, a tetralogy of fallot is not specific to DiGeorge. Therefore, a microarray (instead of a FISH) is good because it is broad and will check for many things. |
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