Myocarditis and cardiomyopathies Noncoronary myocardial diseases

Same symptoms, different disease…. 28 year old man with history of dyspnea on exertion for 2 years and recent palpitations. Echo shows normal EF with septal thickening. Holter reveals frequent PVC’s. 55 year old female with recent viral illness. Progressive SOB, orthopnea and PND. CXR shows vascular congestion. Echo c/w 4 chamber dilatation and EF 15%. 43 year old female with Hodgkin's lymphoma treated with radiation and chemotherapy. Presents with worsening SOB, weight gain and fatigue. Echo reveals normal size ventricles with biatrial dilatation

Objectives Clarify confusing terminology Discuss how to classify the main types of myocardial disease Learn how to differentiate the disorders Discuss treatment options

Definition of cardiomyopathy WHO 1980: “ heart muscle disease of unknown cause” WHO 1995 : “ disease of the myocardium associated with cardiac dysfunction”  Classified according to anatomic appearance and abnormal physiology  Dilated Cardiomyopathy ( DCM)  Hypertrophic Cardiomyopathy (HCM)  Restrictive Cardiomyopathy (RCM)  Arrhythmogenic right ventricular dysplasia ( ARVD)  Unclassified Cardiomyopathies

Common features and what it is not! Often includes: Heterogeneous group of diseases of the myocardium Mechanical and/or electrical dysfunction Ventricular hypertrophy or dilatation Genetic basis to disease Excludes: Heart disease caused by cardiovascular disorders ( CAD, HTN and valvular abnormalities)

Inherited Cardiomyopathies

Classification of Cardiomyopathies Progressive fibro-fatty replacement of the right ventricle Arrhythmogenic right ventricular cardiomyopathy Restricted filling and reduced diastolic size of either or both ventricles with normal or near-normal systolic function. Restrictive cardiomyopathy Left and/or right ventricular hypertrophy, often asymmetrical, which usually involves the interventricular septum. Hypertrophic cardiomyopathy Dilatation and impaired contraction of the left or both ventricles. Dilated cardiomyopathy

Dilated Cardiomyopathy Restricted filling and reduced diastolic size of either or both ventricles with normal or near- normal systolic function. Restrictive cardiomyopathy Left and/or right ventricular hypertrophy, often asymmetrical, which usually involves the interventricular septum. Hypertrophic cardiomyopathy Dilatation and impaired contraction of the left or both ventricles. Dilated cardiomyopathy DescriptionDisorder

Dilated Cardiomyopathy ( DCM) Most common Myocyte injury and fibrosis Wide spectrum of causes:  Idiopathic  Genetic ( 20-30%)  Inflammatory (infectious and noninfectious)  Toxic  Metabolic  Neuromuscular

DCM Main features: dilatation of both ventricles and atria Mural thrombi are frequently present in LV Scarring of the mitral and tricuspid leaflets and secondary dilatation of their Annuli Reduced systolic function

Physiologic consequences

Diagnosis and treatment Diagnosis Identify underlying abnormality EKG,CXR, Echo +/- cardiac catheterization Cardiac MRI or CT Endomyocardial biopsy on rare occasions Treatment Alleviate symptoms Prevent complications and disease progression

Hypertrophic Cardiomyopathy Restricted filling and reduced diastolic size of either or both ventricles with normal or near- normal systolic function. Restrictive cardiomyopathy Left and/or right ventricular hypertrophy, often asymmetrical, which usually involves the interventricular septum. Hypertrophic cardiomyopathy Dilatation and impaired contraction of the left or both ventricles. Dilated cardiomyopathy

Hypertrophic cardiomyopthy Incidence 1:500 adult population Etiology: Familial disorder. Autosomal dominant pattern Genetic mutation forms in sarcomere contractile protein in 60-70% patients Most common mutations occur in beta myosin heavy chain and cardiac myosin-binding protein c

Disease of Sarcomere

Variants of HCM

Hypertrophic Cardiomyopathy Most common presentation

Hemodynamic abnormalities HCM is characterized by wide array of clinical manifestations and hemodynamic abnormalities LV outflow obstruction Diastolic dysfunction Myocardial ischemia Mitral regurgitation

LVOT Obstruction

Manifestations Phenotypic expression usually occurs in childhood or early adolescence Symptoms include chest pain, SOB, and palpitations 5-10% will progress to develop systolic HF ( burned out) Mortality is 1-2% /year and attributed to SCD, HF and stroke More young people die of SCD Risk of atrial and ventricular tachyarrhythmia's increase with age

Electrical disturbances

Sudden death

Management Strategy

Septal Myectomy

Restrictive Cardiomyopathy Restricted filling and reduced diastolic size of either or both ventricles with normal or near- normal systolic function. Restrictive cardiomyopathy Left and/or right ventricular hypertrophy, often asymmetrical, which usually involves the interventricular septum. Hypertrophic cardiomyopathy Dilatation and impaired contraction of the left or both ventricles. Dilated cardiomyopathy

Restrictive Cardiomyopathy Least Common Fibrotic or infiltrated myocardium Non-dilated ventricles with dilated atria Normal systolic function with impaired ventricular filling

Classification of Restrictive Cardiomyopathy Myocardial Non-infiltrative:  Idiopathic  Familial  Hypertrophic  Scleroderma Infiltrative:  Amyloid  Sarcoid  Gaucher’s Storage disease  Hemochromatosis  Glycogen storage disease  Fabry’s Endomyocardial  Endomyocardial fibrosis  Hypereosinophilic syndrome  Carcinoid  Metastatic malignancy  Radiation  Chemotherapy toxicity

Physiology of RCM Rigid myocardium Diastolic Ventricular pressure Ventricular filling Venous congestion CO Jugular venous distention Hepatomegaly Ascites Weakness Fatigue

MRI images

Hallmarks of Disease 1. Symptoms and signs of heart failure with predominant right- sided findings. 2. Normal left and right ventricular size and systolic function with dilated atria. 3. Diastolic ventricular functional abnormalities suggestive of reduced ventricular compliance ( stiffness)

RCM vs CP

Cardiac Amyloid Build up of proteins in body tissues and organs

Diagnosis and Management Diagnosis CXR EKG: conduction abnormalities Echo CT or MRI scan Endomyocardial biopsy Management Poor prognosis Symptomatic relief of fluid overload Treat underlying pathology

Role of Biopsy The principal purpose of right ventricular endomyocardial biopsy has been to differentiate patients with myocarditis from those with IDC. The usual rate of detection is approximately 10 percent. Biopsy should currently be considered for patients participating in clinical trials and those with myocardial dysfunction and a treatable systemic disease known to affect the myocardium, such as amyloidosis, sarcoidosis or eosinophilia.

Back to our patients 28 year old man with history of dyspnea on exertion for 2 years and recent palpitations. Echo shows normal EF with septal thickening. Holter reveals frequent PVC’s. 55 year old female with recent viral illness. Progressive SOB, orthopnea and PND. CXR shows vascular congestion. Echo c/w 4 chamber dilatation and EF 15%. 43 year old female with Hodgkin's lymphoma treated with radiation and chemotherapy. Presents with worsening SOB, weight gain and fatigue. Echo reveals normal size ventricles with biatrial dilatation

Cardiomyopathies: Summary

Summary Cardiomyopathies are diseases of the heart muscle and are classified based on their structural and functional phenotype Disorders are frequently genetic Accurate differentiation is needed in order to guide treatment and management