Successfully reported this slideshow.

Mucopolysaccharidoses and their Cardiac Manifestations

912 views

Published on

  • Be the first to comment

Mucopolysaccharidoses and their Cardiac Manifestations

  1. 1. Mucopolysaccharidoses and their Cardiac Manifestations Samuel Menahem Head, Paediatric Cardiology Monash Medical Centre, Consultant Cardiologist Department of Cardiology, Royal Children’s Hospital, Melbourne.
  2. 2. <ul><li>HEART INVOLVEMENT IN MUCOPOLYSACCHARIDOSES </li></ul><ul><li>Accumulation of Abnormal Deposits +/- resultant reactions in : </li></ul><ul><li>Heart muscle - thickened, weak and/or stiff muscle (80% - autopsy series) </li></ul><ul><li>Heart Valves - narrowed +/- leaky valves {60% - autopsy series} </li></ul><ul><li>Blood Vessels of the heart - narrowing (30% - autopsy series) </li></ul><ul><li>Consequences </li></ul><ul><li>Nil-Unaffected individuals </li></ul><ul><li>Limitation in function </li></ul><ul><li>Need for medication </li></ul><ul><li>Heart Failure </li></ul><ul><li>Sudden Death </li></ul><ul><li>Heart involvement increases with age (50%) </li></ul><ul><li>Additional Problems </li></ul><ul><li>High blood pressure -lungs/body </li></ul><ul><li>Abnormal ECG - problems with rhythm - prolonged QT interval </li></ul>
  3. 3. Normal Heart and Arteries RA LA RV LV Ligamentum Ao PA RA/LA = Right & Left Atrium RV/LV = Right & Left Ventricle Ao =Aorta; PA =Pulmonary Artery
  4. 4. 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 RV LV P A M T
  5. 5. Normal Circulation LA RA RV LV Ao PA Main Circ. Lung Circ. Lower systemic circulation (abdo. & legs) Right lung Left lung Upper systemic circulation (head & arms) PA Ao Ao SVC IVC LPA RPA RA LA RV LV
  6. 6. 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 TYPE OF HEART INVOLVEMENT
  7. 7. <ul><li>Clinical Examination </li></ul><ul><li>ECG/Chest x-ray </li></ul><ul><li>Echocardiogram </li></ul><ul><li>Regular review </li></ul><ul><li>Medication </li></ul><ul><li>Catheter Intervention </li></ul><ul><li>Valve/heart vessels </li></ul><ul><li>Surgery </li></ul>M A N A G E M E N T
  8. 8. <ul><li>Clinical Examination </li></ul><ul><li>ECG /Chest x-ray </li></ul><ul><li>Echocardiogram </li></ul><ul><li>Regular review </li></ul><ul><li>Medication </li></ul><ul><li>Catheter Intervention </li></ul><ul><li>Valve/heart vessels </li></ul><ul><li>Surgery </li></ul>M A N A G E M E N T
  9. 9. Electrocardiogram (ECG)
  10. 10. <ul><li>Clinical Examination </li></ul><ul><li>ECG/Chest x-ray </li></ul><ul><li>Echocardiogram </li></ul><ul><li>Regular review </li></ul><ul><li>Medication </li></ul><ul><li>Catheter Intervention </li></ul><ul><li>Valve/heart vessels </li></ul><ul><li>Surgery </li></ul>M A N A G E M E N T
  11. 11. Chest X-ray
  12. 12. <ul><li>Clinical Examination </li></ul><ul><li>ECG/Chest x-ray </li></ul><ul><li>Echocardiogram </li></ul><ul><li>Regular review </li></ul><ul><li>Medication </li></ul><ul><li>Catheter Intervention </li></ul><ul><li>Valve/heart vessels </li></ul><ul><li>Surgery </li></ul>M A N A G E M E N T
  13. 13. Cross sectional echocardiography (Echo)
  14. 14. <ul><li>Clinical Examination </li></ul><ul><li>ECG/Chest x-ray </li></ul><ul><li>Echocardiogram </li></ul><ul><li>Regular review </li></ul><ul><li>Medication </li></ul><ul><li>Catheter Intervention </li></ul><ul><li>Valve/heart vessels </li></ul><ul><li>Surgery </li></ul>M A N A G E M E N T
  15. 15. HEART SYMPTOMS FROM OTHER ABNORMALITIES <ul><li>Upper Airway Obstruction </li></ul><ul><li>- Large tonsils/adenoids </li></ul><ul><li> Carbon dioxide retention - Right heart failure </li></ul><ul><li>- Low oxygen - left heart failure </li></ul><ul><li>Stiff Chest Wall </li></ul><ul><li>- Breathlessness </li></ul><ul><li>- May be aggravated by heart failure </li></ul>
  16. 16. C O N C L U S I O N S <ul><li>Heart involvement common </li></ul><ul><li>Most minor and no treatment except follow up </li></ul><ul><li>May be helped with medication </li></ul><ul><li>Occasional catheter/surgery intervention </li></ul><ul><li>Look for “non-heart” causes for symptoms </li></ul>
  17. 17. A REVIEW OF MPS WITH CARDIAC INVOLVEMENT Alex Lu Martin Delatycki Samuel Menahem Royal Children’s Hospital Melbourne
  18. 18. 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
  19. 19. 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 = 38
  20. 20. 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 Type 1- Hurler
  21. 21. 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 - Hurler
  22. 22. 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 = 12
  23. 23. <ul><li>Echo - 5 cases </li></ul><ul><li>Normal LV function 5 </li></ul><ul><li>Moderate MS 1 </li></ul><ul><li>Mild/Moderate AR 2 </li></ul><ul><li>Thickened MV/AV 1 </li></ul><ul><li>Prolapse of AMVL 1 </li></ul>Type III - San Filippo n = 25
  24. 24. <ul><li>3 Autopsies </li></ul><ul><li>1 normal heart </li></ul><ul><li>1 thickening and nodules of AV/MV, </li></ul><ul><li> narrowed coronary arteries </li></ul><ul><li>1 thickened MV/AV/PV </li></ul>Type III - San Filippo
  25. 25. 1 Normal heart 1 mildly thickened AV/MV mild AR 1 mildly thickened MV, mild AR Type V - Morquio n=5
  26. 26. Good LV function 5 Mild MR 4 Mild AR 2 Mild MS 3 LVH 1 Dilated LV 1 Type VI - Maroteaux Lamy n=7
  27. 27. 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-Lamy

×