Symptoms of the heart vary across the MPS diseases and management will depend on the circumstances of those with MPS and their families and carers. Specific features for each MPS disease are below, or use the side bar to navigate to each disease.
Heart
MPS I Hurler, Hurler-Scheie and Scheie
Hurler disease
Heart disease is common but may not develop or cause major problems until later in life when medicines can be prescribed to help manage the condition such as high blood pressure. As Hurler disease progresses the muscle of the heart may be damaged by storage of mucopolysaccharides causing cardiomyopathy. This is when it becomes harder for the heart to pump blood to the rest of the body. Additionally, the heart is put under strain by having to pump blood through stiffened and inefficient lungs. Sometimes arteries may become narrowed and cause episodes of chest pain called angina, which can be manged by medicines.
Hurler-Scheie and Scheie disease
Heart murmurs can happen when heart valves become damaged by stored mucopolysaccharides. The heart valves are designed to keep blood flowing in the right direction. If a valve is weakened or changed in shape it may not work properly and a small amount of blood may leak in the wrong direction. Some people with Scheie disease may develop problems with one of the heart valves but they may have valvular heart disease for years without any ill effects. If the condition worsens an operation may be possible to replace the damaged valves.
An electrocardiogram (ECG) test is used to identify problems with heart muscle, function and valves, it is a painless procedure and is often carried out annually (or as often as the doctor thinks necessary) to show whether any problems are starting.
MPS II Hunter
Heart disease is fairly common but may not develop or cause problems until much later in life. The heart may be affected in different ways. The muscles of the heart may can be damaged by build-up of mucopolysaccharides, this is called cardiomyopathy, putting the heart muscles under strain. This can lead to repeated chest infections or by having to pump blood through stiffened lungs. The heart valves can be weakened and can fail to close tightly enough allowing small amounts of blood to leak back again. Problems with the valves can lead to valvular heart disease and if the condition worsens an operation may be needed to replace the damaged valves.
An electrocardiogram (ECG) test is used to identify problems with heart muscle, function and valves, it is a painless procedure and is often carried out annually (or as often as the doctor thinks necessary) to show whether any problems are starting.
MPS III Sanfilippo
The build-up of waste materials in MPS III can result in some specific issues with the heart. These often do not have an impact on daily life but may require monitoring. It is rare for cardiac issues in MPS III to require treatment, but clinical teams will assess each individual and recommend treatment if necessary.
Valves – the valves of the heart can become damaged, resulting in leaking (regurgitation) or blood between the chambers of the heart.
Cardiomyopathy – is the thickening of the heart muscle (or walls of the heart).
Arrhythmia – irregular heart rhythms which may be experienced as palpitations or chest discomfort and are usually picked up if an individual has an electrocardiogram (ECG).
Advice for professionals
We want to give you the tools to be able to learn about MPS, Fabry and related diseases in order for children with the condition to receive a faster diagnosis.
MPS IV Morquio
Occasionally heart disease develops in late childhood but it does not usually cause problems until much later in life. The heart may be affected in different ways. The muscles of the heart can be damaged by build-up of mucopolysaccharides, this is called cardiomyopathy, putting the heart muscles under strain. This can lead to repeated chest infections or by having to pump blood through stiffened lungs. The heart valves can be weakened and can fail to close tightly enough allowing small amounts of blood to leak back again. Problems with the valves can lead to valvular heart disease and if the condition worsens an operation may be needed to replace the damaged valves.
An electrocardiogram (ECG) test is used to identify problems with heart muscle, function and valves, it is a painless procedure and is often carried out annually (or as often as the doctor thinks necessary) to show whether any problems are starting.
MPS VI Maroteaux-Lamy
The heart may be affected in different ways. The muscles of the heart can be damaged by build-up of mucopolysaccharides, this is called cardiomyopathy, putting the heart muscles under strain. This can lead to repeated chest infections or by having to pump blood through stiffened lungs. The heart valves can be weakened and can fail to close tightly enough allowing small amounts of blood to leak back again. Problems with the valves can lead to valvular heart disease and if the condition worsens an operation may be needed to replace the damaged valves.
An electrocardiogram (ECG) test is used to identify problems with heart muscle, function and valves, it is a painless procedure and is often carried out annually (or as often as the doctor thinks necessary) to show whether any problems are starting.
MPS VII Sly
Heart disease is common in people with the severe form of MPS VII but may not develop or cause major problems until later in life when drugs can be prescribed to help relieve the condition. The heart may be affected in different ways. The muscles of the heart can be damaged by build-up of mucopolysaccharides, this is called cardiomyopathy, putting the heart muscles under strain. This can lead to repeated chest infections or by having to pump blood through stiffened lungs. The heart valves can be weakened and can fail to close tightly enough allowing small amounts of blood to leak back again. Problems with the valves can lead to valvular heart disease and if the condition worsens an operation may be needed to replace the damaged valves.
An electrocardiogram (ECG) test is used to identify problems with heart muscle, function and valves, it is a painless procedure and is often carried out annually (or as often as the doctor thinks necessary) to show whether any problems are starting.
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