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Case Presentation

Case Presentation . Sub-aortic stenosis. Mr T.P. Presented to G.P. with increasing shortness of breath and exertional chest discomfort. G.P. noticed a systolic murmur. Shortness of breath Exercise tolerance of 20 metres (2 years prior, it was 40 metres)

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Case Presentation

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  1. Case Presentation Sub-aortic stenosis

  2. Mr T.P. • Presented to G.P. with increasing shortness of breath and exertional chest discomfort. G.P. noticed a systolic murmur. • Shortness of breath • Exercise tolerance of 20 metres (2 years prior, it was 40 metres) • 7-8 steps prior to stopping (2 years prior 15 steps with no trouble) • No symptoms of decompensated left heart failure orthopnea or paroxsymal nocturnal dyspnoea and no symptoms to suggest of right heart failure

  3. Mr. T.P. • Chest discomfort • Occurs only on exertion • Dull central and mild, during climbing stairs and during walking 20 – 30 metres. • Shortness of breath tends to stop him first before the chest discomfort does • Palpitations post exercise (fast and regular) • No documented Arrhythmias

  4. Mr T.P. • Negative symptoms • No symptoms to suggest respiratory or anemic cause to the shortness of breath. • No syncope or cardiac arrest • No symptoms to suggest sleep apnoea

  5. Mr. T.P. • Past medical history • Likely to have COPD, 40 pack years of smoking history and gave up only 4 years ago. No formal diagnosis • Left thigh burning pain and numbness. Multiple investigations MRI of spine and L/L doppler. • Benign prostate enlargement • Cardiac risk: • Smoker as previously mentioned • Hypertension  never documented or prescribed medications for hypertension. Letters and echo 156/84 • Not diabetic • High cholesterol  On rosuvastatin. • 22 kg overweight. 90 Kg and 168 cm.

  6. Mr T.P. Social history: Ex smoker Social drinker Medications: Rosuvastatin Nexium Diltiazem Aspirin Stilnox Flomaxtra

  7. Mr T.P. • Family history • Mother died of cardiac “heart attack” at age 62 (24 hours after PPM/AICD insertion). • Autopsy record have been destroyed. • Maternal Aunt died of “heart attack” at age of 44 • Mr T.P. is not sure what is “heart attack” whether it is SCD or AMI.

  8. Mr T.P. • Physical examination • Systolic murmur that radiated more towards the axillae rather than carotids • Decrease in amplitude with valsalva maneuver

  9. Other investigations CXR – Hyperexpansion, but no other abnormalities. Respiratory function test – has not been performed Bloods normal, No anemia.

  10. ECG

  11. Echocardiogram

  12. Echocardiogram

  13. Echocardiogram

  14. Echocardiogram

  15. Echocardiogram

  16. Echocardiogram

  17. Echocardiogram

  18. Echocardiogram

  19. Echocardiogram

  20. Echocardiogram

  21. Echocardiogram

  22. Echocardiogram

  23. Echocardiogram

  24. Echocardiogram

  25. Echocardiogram

  26. Stress Test

  27. Stress Echocardiogram

  28. Stress Echocardiogram

  29. First Question • Does Mr T.P. Have hypertrophic cardiomyopathy?

  30. Diagnosis • Certain diagnosis is via +ve result for recognised mutation. • Histopathology • Myocyte disarray • Fibrosis.

  31. Diagnostic Criteria • Left ventricular wall thickness > 15mm • Absence of other causes of left ventricular hypertrophy • Other features: • Asymmetrical features (septal > posterior wall) • LVOT obstruction • Diastolic dysfunction (early finding) • Tissue doppler parametres: • Myocardial velocity gradient = (endocardium velocity – epicardial velocity/ myocardial thickness) during atrial contraction • Early diastolic tissue velocities and Systolic tissue velocities (small study)

  32. Diagnostic criteria • Family Pedigree of Autosomal dominant inheritance • Absence of DDx: • Phenocopies • Other: • Athlete’s heart • Aortic stenosis • Hypertension – Idiopathic/ OSA.

  33. Diagnostic criteria for first degree relatives

  34. Repeated echo

  35. Repeated Echo

  36. Repeated Echo

  37. Should Mr T.P. Have genetic testing? • No specific guidelines • Broad principles

  38. Should Mr T.P. Have genetic testing?

  39. Genetic testing Circulation 2010, 122, 2430 - 2450

  40. Genetic testing

  41. Genetic testing • Yield of genetic testing depends on the population the test is applied to and hence a pedigree should be obtained to guide testing. • Unknown familial pattern • Sensitivity of 20 – 40%, Specificity 80% • Autosomal familial pattern • Sensitivity 60 – 70%, Specificity of 80% • Currently prognosis can not be determined with the results of genotype found by genetic testing • Unreliable genotype and phenotype relationship/ variable penetrance • Gene modifiers • Environmental influence • Variability of phenotypes (within and between families) despite identical genotype.

  42. Genetic testing • Positive mutation (no matter what type suggest a poorer prognosis overall) • Younger diagnosis, more severe hypertrophy, worse heart failure, increased likelihood of stroke, more likely to receive AICD. • Most definite role • Exclusion of phenocopies • Identifying risk to relatives of identified proband • Positive test is more useful than negative test • Particularly in guiding amount of clinical longitudinal follow up of 1st degree relatives

  43. Genetic testing • Yield is higher in the individual that is more affected (more severe phenotype).

  44. Genetic testing

  45. Genetic testing • Risk stratification based on severity of symptoms and results of investigations. • Impact on patient’s life • Family pedigree

  46. Therapy • Does Mr T.P. Need an AICD?

  47. Therapy

  48. Does Mr T.P. Need a AICD? • Prior cardiac arrest?  Class I indication • No Prior cardiac arrest  Class IIb indication • High risk factors (one or more/ two or more) • Spontaneous VT • Abnormal Blood pressure response to exercise • LV thickness > 30 mm • Unexplained Syncope • Family history of SCD

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