Mucopolysaccharidoses and their Cardiac Manifestations

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Mucopolysaccharidoses and theirCardiac
Manifestations

• Samuel Menahem
• Head, Paediatric Cardiology
• Monash Medical Centre,
• Consultant Cardiologist
• Department of Cardiology, Royal Childrens
  Hospital,
• Melbourne.

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• HEART INVOLVEMENT IN MUCOPOLYSACCHARIDOSES
• Accumulation of Abnormal Deposits /- resultant
  reactions in
• Heart muscle - thickened, weak and/or stiff
  muscle (80 - autopsy series)
• Heart Valves - narrowed /- leaky valves 60
  - autopsy series
• Blood Vessels of the heart - narrowing (30 -
  autopsy series)
• Consequences
• Nil-Unaffected individuals
• Limitation in function
• Need for medication
• Heart Failure
• Sudden Death
• Heart involvement increases with age (50)
• Additional Problems

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Normal Heart and Arteries
Ligamentum
Ao
PA
LA
RA
LV
RV
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Heart Valves
Each side of the heart has two valves They
control flow of blood into and out of the two
ventricles (LV RV). The left sided valves
are the Mitral (M) - inflow and Aortic
(A) - outlet The right heart
valves are Tricuspid (T) -
inflow and Pulmonary (P) - outlet
LV
RV
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Normal Circulation
Upper systemic circulation (head arms)
Left lung
Right lung
LPA
RPA
Ao
PA
LA
LA
RA
SVC
RV
LV
RA
LV
Ao
PA
RV
IVC
Main Circ.
Ao
Lung Circ.
Lower systemic circulation (abdo. legs)
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TYPE OF HEART INVOLVEMENT
IH (Hurler) Most severe - heart muscle
thick/weak Heart vessels thickened - heart
attack/angina Thickened/nodular leaky valves -
mitral valve/aortic valve IS (Scheie) Involve
heart valves - aortic/mitral II (Hunter) Heart
Vessels - Heart attack Thickened valves -
mitral/aortic leak IIIA (Sanfilippo) Aortic
valve leak, mitral valve leak IVA
(Morquio) Heart wall, thickened/leaky valves -
aortic/mitral VI (Maroteaux-Lamy) Heart wall
thickened/stiff, weak Thickened/narrow/leaky
valves - mitral/aortic valves VII (Sly) Leaky
valve aortic
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M A N A G E M E N T

• Clinical Examination
• ECG/Chest x-ray
• Echocardiogram
• Regular review
• Medication
• Catheter Intervention
• Valve/heart vessels
• Surgery

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M A N A G E M E N T

• Clinical Examination
• ECG/Chest x-ray
• Echocardiogram
• Regular review
• Medication
• Catheter Intervention
• Valve/heart vessels
• Surgery

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Electrocardiogram (ECG)
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M A N A G E M E N T

• Clinical Examination
• ECG/Chest x-ray
• Echocardiogram
• Regular review
• Medication
• Catheter Intervention
• Valve/heart vessels
• Surgery

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Chest X-ray
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M A N A G E M E N T

• Clinical Examination
• ECG/Chest x-ray
• Echocardiogram
• Regular review
• Medication
• Catheter Intervention
• Valve/heart vessels
• Surgery

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Cross sectional echocardiography (Echo)
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M A N A G E M E N T

• Clinical Examination
• ECG/Chest x-ray
• Echocardiogram
• Regular review
• Medication
• Catheter Intervention
• Valve/heart vessels
• Surgery

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HEART SYMPTOMS FROM OTHER ABNORMALITIES

• Upper Airway Obstruction
• - Large tonsils/adenoids
• Carbon dioxide retention - Right heart
  failure
• - Low oxygen - left heart failure
• Stiff Chest Wall
• - Breathlessness
• - May be aggravated by heart failure

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C O N C L U S I O N S

• Heart involvement common
• Most minor and no treatment except follow up
• May be helped with medication
• Occasional catheter/surgery intervention
• Look for non-heart causes for symptoms

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A REVIEW OF MPS WITH CARDIAC
INVOLVEMENT Alex Lu Martin Delatycki Samuel
Menahem Royal Childrens Hospital Melbourne
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MPS - RCH Born between 1957 - 1998 Confirmed
Cases Type I Hurler 38 Type
II Hunter 18 Type III San Filippo 41 Type
IV Morquio 5 Type VI Maroteaux-Lamy 7
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Type I - Hurler n 38
Data available 14 Death 13 (1yr to 11
yrs) Alive 1 (Bone marrow transplant at 17
months) 6 cases echo - Reduced LV
contractility 2 - Mitral regurgitation
4 (mild) - thickened MV - Aortic
regurgitation 2 (mild/moderate) - thickened
AV - Dilated RV, thickened TV, PV 1 -
Medical Treatment 1
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Type 1- Hurler
3 Autopsies 1. Intimal thickening of aorta and
ventricles Dilated Hypertrophied LV Thickened
nodular mitral valve Thickened aortic
valve Narrowed coronary arteries 2. Intimal
thickening aorta Hypertrophied left
ventricle Narrowed coronary arteries 3. Intimal
thickening of aorta Hypertropied LV Narrowed
coronary arteries
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Type 1 - Hurler
1 Bone marrow transplant - 17 months Pre-transp
lant - mild MR, AR, TR Post transplant -
dilated LV, moderate MR, AR, mild TR
improved clinical/biochemical parameters
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Type II Hunter n 12
4 deaths (7 to 30 years) Normal LV
function 8 Thickened mitral valve, mild
/moderate MR 8 Thickened aortic valve/mild
AR 4 Mild AS 1 1 autopsy - thickened
mitral valve and calcified mitral valve annulus,
LV intimal thickening
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Type III - San Filippo n 25

• Echo - 5 cases
• Normal LV function 5
• Moderate MS 1
• Mild/Moderate AR 2
• Thickened MV/AV 1
• Prolapse of AMVL 1

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Type III - San Filippo

• 3 Autopsies
• 1 normal heart
• 1 thickening and nodules of AV/MV,
• narrowed coronary arteries
• 1 thickened MV/AV/PV

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Type V - Morquio n5
1 Normal heart 1 mildly thickened AV/MV mild
AR 1 mildly thickened MV, mild AR
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Type VI - Maroteaux Lamy n7
Good LV function 5 Mild MR 4 Mild
AR 2 Mild MS 3 LVH 1 Dilated LV 1
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Type VI Maroteaux-Lamy
1 mitral valvotomy 13 years, mitral valve
replacement 14 years aortic valvotomy on
medication 1 mitral valve replacement/aortic
valvotomy for MS/AS death