Cardiovascular Gaucher disease (CGD), also known as type 3C Gaucher disease, is a type of Gaucher disease caused by a specific mutation in the GBA gene, which encodes for an enzyme called glucocerebrosidase. This mutation, known as D409H, substitutes the amino acid (building blocks of proteins) aspartic acid to histidine at position 409 in the glucocerebrosidase enzyme.
CGD is the rarest type of Gaucher disease with fewer than 30 recorded cases. It is inherited in an autosomal recessive manner, which means that two copies of the D409H mutation are needed for a person to have CGD.
Symptoms
Symptoms of CGD first start appearing in childhood and worsen over time. They include hardening of the heart valves, enlargement of the liver and spleen, fragile bones, and in some cases, difficulties controlling eye movement (oculomotor apraxia), and opaque corneas. The types of cardiac abnormalities that can be seen in CGD patients are summarized below.
Mitral valve stenosis and mitral insufficiency
The mitral valve lies between the left atrium and left ventricle of the heart. Narrowing of the mitral valve (stenosis) blocks the flow of blood into the left ventricle, the main pumping chamber of the heart. In other cases, the mitral valve does not close properly, which causes the backflow of blood into the left atrium.
Aortic stenosis
Aortic stenosis is the narrowing of the aortic valve opening that is situated between the left ventricle and the aorta (the largest blood vessel in the body). Aortic stenosis results in decreased blood flow to the aorta and, depending on severity, can lead to fatigue, chest pain, breathlessness, and fainting.
Hypoplastic aortic arch
A hypoplastic aorta shows thickened walls and calcification (deposition of calcium salts) along the entire length of the aortic arch leading to reduced blood flow. Narrowing of the openings of the arteries that branch out of the aorta also may be observed.
Diagnosis
Measuring the activity of glucocerebrosidase using the so-called beta-glucosidase leukocyte (BGL) test can suggest Gaucher disease, but genetic testing for the D409H mutation in the GBA gene is required to confirm CGD. Magnetic resonance imaging (MRI) can reveal specific structural defects in the heart and indicate the extent of the thickening in the aorta and other blood vessels.
Treatment
Proactive monitoring of symptoms and regular assessment of vital parameters such as blood counts, spleen and liver size, and bone density is important. Constant cardiac monitoring is required to identify irregular heart function.
Enzyme replacement therapy or substrate reduction therapy may help improve patients’ quality of life. In severe cases, surgery might be required to replace the aortic or mitral valves.
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