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Mucopolysaccharidoses and their
Cardiac Manifestations
Mucopolysaccharidoses and their
Cardiac ManifestationsSamuel Menahem
Head, Paediatric CardiologyMonash Medical Centre,
Consultant CardiologistDepartment of Cardiology, Royal Children’s Hospital,
Melbourne.
Samuel Menahem
Head, Paediatric CardiologyMonash Medical Centre,
Consultant CardiologistDepartment of Cardiology, Royal Children’s Hospital,
Melbourne.
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)
ConsequencesConsequences
Nil-Unaffected individuals Limitation in function Need for medication Heart Failure Sudden Death Heart involvement increases with age (50%)
Additional ProblemsAdditional Problems
High blood pressure -lungs/body Abnormal ECG - problems with rhythm - prolonged QT interval
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)
ConsequencesConsequences
Nil-Unaffected individuals Limitation in function Need for medication Heart Failure Sudden Death Heart involvement increases with age (50%)
Additional ProblemsAdditional Problems
High blood pressure -lungs/body Abnormal ECG - problems with rhythm - prolonged QT interval
Normal Heart and ArteriesNormal Heart and Arteries
RARA
LALA
RVRVLVLV
LigamentumLigamentum
AoAoPAPA
RA/LA =
Right & Left Atrium
RA/LA =
Right & Left Atrium
RV/LV =
Right & Left Ventricle
RV/LV =
Right & Left Ventricle
Ao =Aorta;
PA =Pulmonary Artery
Ao =Aorta;
PA =Pulmonary Artery
Heart ValvesHeart Valves
PP
AAMM
TT
Each side of the heart has two valvesThey control flow of blood into and out of the two ventricles (LV & RV).
The left sided valves are theMitral (M) - inflow
and Aortic (A) - outlet
The right heart valves are Tricuspid (T) - inflow
and Pulmonary (P) - outlet
Each side of the heart has two valvesThey control flow of blood into and out of the two ventricles (LV & RV).
The left sided valves are theMitral (M) - inflow
and Aortic (A) - outlet
The right heart valves are Tricuspid (T) - inflow
and Pulmonary (P) - outletRVRVLVLV
LALARARA
RVRVLVLV
AoAoPAPA
MainCirc.MainCirc.
LungCirc.LungCirc.
Lower systemiccirculation (abdo. & legs)
Lower systemiccirculation (abdo. & legs)
RightlungRightlung
LeftlungLeftlung
Upper systemiccirculation
(head & arms)
Upper systemiccirculation
(head & arms)
PAPAAoAo
AoAo
SVCSVC
IVCIVC
LPALPARPARPA
Normal Circulation
Normal Circulation
RARA
LALA
RVRVLVLV
IH (Hurler) Most severe - heart muscle thick/weakHeart vessels thickened - heart attack/anginaThickened/nodular leaky valves - mitral valve/aortic valve
IS (Scheie) Involve heart valves - aortic/mitral
II (Hunter) Heart Vessels - Heart attackThickened 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, weakThickened/narrow/leaky valves - mitral/aortic valves
VII (Sly) Leaky valve aortic
IH (Hurler) Most severe - heart muscle thick/weakHeart vessels thickened - heart attack/anginaThickened/nodular leaky valves - mitral valve/aortic valve
IS (Scheie) Involve heart valves - aortic/mitral
II (Hunter) Heart Vessels - Heart attackThickened 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, weakThickened/narrow/leaky valves - mitral/aortic valves
VII (Sly) Leaky valve aortic
TYPE OF HEART INVOLVEMENTTYPE OF HEART INVOLVEMENTTYPE OF HEART INVOLVEMENTTYPE OF HEART INVOLVEMENT
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
M A N A G E M E N TM A N A G E M E N TM A N A G E M E N TM A N A G E M E N T
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
M A N A G E M E N TM A N A G E M E N TM A N A G E M E N TM A N A G E M E N T
Electrocardiogram (ECG)Electrocardiogram (ECG)
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
M A N A G E M E N TM A N A G E M E N TM A N A G E M E N TM A N A G E M E N T
Chest X-rayChest X-ray
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
M A N A G E M E N TM A N A G E M E N TM A N A G E M E N TM A N A G E M E N T
Cross sectional echocardiography (Echo)Cross sectional echocardiography (Echo)
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
Clinical Examination
ECG/Chest x-ray
Echocardiogram
Regular review
Medication
Catheter InterventionValve/heart vessels
Surgery
M A N A G E M E N TM A N A G E M E N TM A N A G E M E N TM A N A G E M E N T
HEART SYMPTOMS FROM OTHER ABNORMALITIESHEART SYMPTOMS FROM OTHER ABNORMALITIESHEART SYMPTOMS FROM OTHER ABNORMALITIESHEART 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
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
C O N C L U S I O N SC O N C L U S I O N SC O N C L U S I O N SC 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
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
A REVIEW OF MPS A REVIEW OF MPS
WITH WITH
CARDIAC INVOLVEMENTCARDIAC INVOLVEMENT
Alex LuMartin Delatycki
Samuel Menahem
Royal Children’s Hospital Melbourne
A REVIEW OF MPS A REVIEW OF MPS
WITH WITH
CARDIAC INVOLVEMENTCARDIAC INVOLVEMENT
Alex LuMartin Delatycki
Samuel Menahem
Royal Children’s Hospital Melbourne
MPS - RCHMPS - 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
MPS - RCHMPS - 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
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
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
Type I - Hurler n = 38Type I - Hurler n = 38Type I - Hurler n = 38Type I - Hurler n = 38
3 Autopsies
1. Intimal thickening of aorta and ventriclesDilated Hypertrophied LVThickened nodular mitral valveThickened aortic valveNarrowed coronary arteries
2. Intimal thickening aortaHypertrophied left ventricleNarrowed coronary arteries
3. Intimal thickening of aortaHypertropied LVNarrowed coronary arteries
3 Autopsies
1. Intimal thickening of aorta and ventriclesDilated Hypertrophied LVThickened nodular mitral valveThickened aortic valveNarrowed coronary arteries
2. Intimal thickening aortaHypertrophied left ventricleNarrowed coronary arteries
3. Intimal thickening of aortaHypertropied LVNarrowed coronary arteries
Type 1- HurlerType 1- HurlerType 1- HurlerType 1- Hurler
1 Bone marrow transplant - 17 months
Pre-transplant - mild MR, AR, TR
Post transplant - dilated LV, moderate MR, AR, mild TR improved clinical/biochemical parameters
1 Bone marrow transplant - 17 months
Pre-transplant - mild MR, AR, TR
Post transplant - dilated LV, moderate MR, AR, mild TR improved clinical/biochemical parameters
Type 1 - HurlerType 1 - HurlerType 1 - HurlerType 1 - Hurler
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
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
Type II Hunter n = 12Type II Hunter n = 12Type II Hunter n = 12Type II Hunter n = 12
Echo - 5 cases
Normal LV function 5
Moderate MS 1
Mild/Moderate AR 2
Thickened MV/AV 1
Prolapse of AMVL 1
Echo - 5 cases
Normal LV function 5
Moderate MS 1
Mild/Moderate AR 2
Thickened MV/AV 1
Prolapse of AMVL 1
Type III - San Filippo n = 25Type III - San Filippo n = 25Type III - San Filippo n = 25Type III - San Filippo n = 25
3 Autopsies
1 normal heart
1 thickening and nodules of AV/MV, narrowed coronary arteries
1 thickened MV/AV/PV
3 Autopsies
1 normal heart
1 thickening and nodules of AV/MV, narrowed coronary arteries
1 thickened MV/AV/PV
Type III - San FilippoType III - San FilippoType III - San FilippoType III - San Filippo
1 Normal heart
1 mildly thickened AV/MV mild AR
1 mildly thickened MV, mild AR
1 Normal heart
1 mildly thickened AV/MV mild AR
1 mildly thickened MV, mild AR
Type V - Morquio n=5Type V - Morquio n=5Type V - Morquio n=5Type V - Morquio n=5
Good LV function 5
Mild MR 4
Mild AR 2
Mild MS 3
LVH 1
Dilated LV 1
Good LV function 5
Mild MR 4
Mild AR 2
Mild MS 3
LVH 1
Dilated LV 1
Type VI - Maroteaux Lamy n=7Type VI - Maroteaux Lamy n=7Type VI - Maroteaux Lamy n=7Type VI - Maroteaux Lamy n=7
1 mitral valvotomy 13 years,
mitral valve replacement 14 years
aortic valvotomy
on medication
1 mitral valve replacement/aortic valvotomy for MS/AS
death
1 mitral valvotomy 13 years,
mitral valve replacement 14 years
aortic valvotomy
on medication
1 mitral valve replacement/aortic valvotomy for MS/AS
death
Type VI Maroteaux-LamyType VI Maroteaux-Lamy