1. Case Rounds Laura Miles March 3 2012

2. 6 month old female Several day hx of cough and increased work of breathing

3. What do you want to know?

4. Any investigations?

5. CXR

6. Further Testing… EGC Evidence of LVH and possible RVH Inferior T wave inversion Echo Globally poor LV function Dilated and globular LV SF 11 % and EF 22% Normal coronaries

7. ???

9. Cardiomyopathy Classification Pathophysiology Causes Management

10. Classification Dilated Cardiomyopathy Hypertrophic Cardiomyopathy Restrictive Cardiomyopathy

11. Dilated Cardiomyopathy Dilation and impaired systolic function of left or both ventricles Most common type of cardiomyopathy in children Up to 50% 0.5 - 8 per 100 000 children

12. Presentation Initial signs and symptoms may be very vague Irritability Anorexia Abdominal pain Cough (from pulmonary congestion)

13. Presentation Signs and symptoms of CHF Poor systolic function Limited cardiac output Ventricles enlarge and myocardium hypertrophies in an effort to maintain cardiac output Enlargement of ventricles increases systolic wall tension in ventricle and increases myocardial oxygen consumption

14. Presentation Decreased cardiac output decreases renal blood flow Enhances renin-angiotensin system Fluid retention (necessary to maintain output) Stimulation of the sympathetic nervous system  increased heart rate Valvular regurg – dilation of the valve annulus Further myocardial oxygen demand

15. Physical Exam Signs of CHF Cardiomegaly Hepatomegaly Tachycardia Tachypnea Decreased arterial pulse pressure Narrow pulse pressure Gallop Murmur (MR)

16. Further Sequelae Abnormal myocytes  conduction abnormalities Nonspecific ST and T wave changes Atrial arrhythmias Ventricular arrhythmias Intraventricular thrombus formation  low flow state

17. A HUGE Differential!! Majority are idiopathic 20-50% familial Autosomal dominant is most common 5-10% are X linked Small number of autosomal recessive Mitochondrial Viral myocarditis

18. A HUGE Differential!! Neuromuscular Duchenne’s Muscular Dystrophy Becker’s Muscular Dystrophy Later onset and slower progression Myotonic Dystrophy

19. Other less common causes: Infectious (excluding viral myocarditis) Metabolic Storage diseases Nutritional deficiencies Endocrine Hypo/hyperthyroidism Pheochromocytoma

20. Other less common causes: Coronary artery abnormalities Congenital Abnormal placement of the right coronary artery between the great vessels Acquired Kawasaki’s Cardiotoxins Anthracyclines Doxorubicin Donorubicin Can occur anywhere from months after treatment completion to years later

21. Other less common causes: Connective tissue diseases Tachyarrhythmias Familial hypercholesterolemia HIV associated Iron overload Severe Hypertension

22. Treatment Look for an identifiable cause and treat it! Majority of patients however have no specific etiology identified

23. Treatment Afterload reduction  to improve forward failure Diuretics as needed for symptoms of backward failure Inotropic agents to improve symptomatic forward failure

24. Treatment Treatment is supportive Either the process resolves The heart improves Or the heart is transplanted

25. Natural Hx Extremely variable Transient dysfunction with complete recovery and minimal symptoms Rapid progression to cardiogenic shock and death Anything in between Most deaths occur within the first 6 months to 2 years after presentation

27. Hypertrophic Cardiomyopathy Left ventricular disease Thickening of the ventricular wall Nondilated

28. Hypertrophic Cardiomyopathy Can be symmetric or asymmetric Asymmetric hypertrophy can obscure outflow tract (HOCM – hypertrophic obstructive cardiomyopathy) Diagnosis is appropriate only after other causes of left ventricular hypertrophy are excluded

29. Causes Can be divided into: Primary (genetic mutation) Secondary Obstructive congenital heart disease Inborn error of metabolism

30. Causes Familial Most often autosomal dominant Wide variability in penetrance Often denovo Generally worse prognosis with early signs of disease

31. Causes Transient Infant of a diabetic mother Can develop with corticosteroid use in prems Metabolic Glycogen storage disease Pompe

32. Presentation Up to 50% of cases present asymptomatically Evaluation of a murmur Screening due to a family history Chest pain Exercise intolerance Arrhythmia Near death event

33. Treatment Supportive Important to maintain preload and avoid hypovolemia No role for afterload reduction or inotropic support (systolic function usually ok) Use of beta blockers, calcium channel blockers Prevention of sudden death debatable May reduce symptoms

34. Treatment Indications for ICD treatment Family history Severe hypertrophy History of ventricular arrhythmia Near sudden death

36. Restrictive Cardiomyopathy Restriction of flow into the ventricles Accounts for less than 5% of cardiomyopathies in children

37. Pathophysiology Abnormal relaxation of ventricular myocardium Decreased ventricular compliance Altered diastolic filling Increased ventricular end-diastolic pressure Elevated atrial pressure Enlargement of atrium

38. Causes Idiopathic Systemic disease Scleroderma Amyloidosis Sarcoidosis Inborn errors of metabolism Mucopolysaccharidosis Hypereosinophilia Radiation Malignancy Noncompaction of the left ventricular myocardium

39. Treatment Medical treatment has limited success Pay close attention to fluid balance High atrial pressures required for adequate preload If atrial pressures too high, may lead to congestion Difficult to achieve adequate balance Usually require early consideration for transplant

40. Questions??

41. References