Cardiomyopathy Jeff Grubbe MD FACP, Chief Medical Director, Allstate Life & Retirement Nebraska Home Office Life Underwriters Association March 20, 2018 1
Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, valvular disease and congenital disease sufficient to explain the observed myocardial dysfunction (UptoDate) A heterogeneous group of conditions usually associated with inappropriate ventricular hypertrophy or dilatation. 2
Cardiomyopathies Primary vs. Secondary Primary, those that predominately involve the heart Genetic (inherited) Mixed Acquired Secondary, those that are part of a generalized systemic disorder 3
Cardiomyopathies Primary Genetic Arrhythmogenic right ventricular cardiomyopathy Hypertrophic cardiomyopathy Mixed Dilated cardiomyopathy Restrictive cardiomyopathy Acquired Myocarditis (inflammatory cardiomyopathy) Peripartum cardiomyopathy Stress cardiomyopathy (Takutsubo) Secondary Autoimmune (systemic lupus) Endocrine (diabetes, hypothyroid) Endomyocardial (fibrosis) Infiltrative (sarcoidosis) Neurologic (neurofibromatosis) Nutritional (beriberi) Radiation Storage (hemochromatosis) Toxic (medication) 4
Types of Cardiomyopathies Dilated cardiomyopathy (DCM) Hypertrophic cardiomyopathy (HCM) Restrictive cardiomyopathy (RCM) Arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/C) Unclassified 5
Dilated cardiomyopathy (DCM) Other names Congestive cardiomyopathy Idiopathic cardiomyopathy Primary cardiomyopathy Familial dilated cardiomyopathy Secondary causes Peripartum (post-partum) Alcoholic Metabolic/endocrine (diabetes, acromegaly, thyroid dysfunction, pheochromocytosis) Ischemic Toxin/drugs (cocaine, amphetamines, lithium, steroids, chemo) Infectious (viral, Chagas, HIV, Lyme) Autoimmune (Lupus) Most common type of cardiomyopathy 5 in 100,000 adults Third leading cause of congestive heart failure in the US Behind CAD & hypertension Often cause isn t known, 1/3 felt to be inherited over 30 genes implicated in DCM Adults 20 to 60 years of age ~50% mortality in 5 years often related to SCD due to arrhythmias (50% M, 46% F) Poorer prognosis Low EF, significant LVE, RVE NYHA class III & IV Ventricular arrhythmias & Atrial fib, conduction blocks History of hospitalization(s) Infiltrative, HIV & toxic cardiomyopathies 6
Dilated cardiomyopathy (DCM) Dilatation and impaired contraction of one or both ventricles -As the heart muscle begins to stretch, the chambers enlarge, the walls become thinner and weaker, losing ability to contract (lower ejection fraction (EF)) progressing to CHF -Typically begins in the left and may later involve the right ventricles and atria - EKG: LVH, conduction blocks, non-specific T changes, arrhythmias and atrial fibrillation common Echo: LV chamber enlarged, normal or decreased wall thickness, systolic dysfunction (reduced EF) 7
Hypertrophic Cardiomyopathy (HCM/HOCM) Other names: Asymmetric septal hypertrophy (ASH) Familial hypertrophic cardiomyopathy Hypertrophic non-obstructive cardiomyopathy Hypertrophic obstructive cardiomyopathy (HOCM) Idiopathic hypertrophic subaortic stenosis (IHSS) Very common Many may be asymptomatic Genetic: in majority of cases inherited, 90% of those autosomal dominant Most common genetic based CV disease 50% of children whose parents have HOCM likely to develop HOCM themselves Can occur at any age Affects men and women equally Common cause of cardiac arrest in young adults leading cause of sudden cardiac death (SCD) in young athletes Variable natural history Mortality 4-6% per year Usual CODs are SCD, heart failure & stroke Poorer prognosis with LV thickness >30mm, LV outlet gradient >50mmHg, sustained VT or Afib, h/o cardiac arrest or FH of SCD Onset prior to age 14, longer duration, Q-waves suggesting prior MI NYHA functional class III or IV Use of digoxin, diuretics or amiodarone Inherited HCM syndromes associated with malignant arrhythmias and SCD More favorable prognosis with Age over 40 Intra ventricular septum < 16mm Non progressive over 5 years Asymptomatic, no h/o arrhythmias, no FH of SCD LV outlet gradient < 10mmHg (no obstruction) 8
Hypertrophic Cardiomyopathy (HCM/HOCM) Myocardial cells enlarge leading to thickened walls The size of the ventricle typically becomes smaller Occurs in different patterns As the myocardium thickens it may impair function of the heart valves or obstruct flow through the valve The walls become stiffer and less able to relax and fill with blood (diastolic dysfunction) May also lead to elevated pressures in the ventricles and pulmonary vessels Myocardial changes lead to arrhythmias & ischemia, especially with exertion EKG: LVH, large QRS complex, Q-waves, frequent T-wave inversion and ST changes Echo: LVH with reduction of LV chamber volume, diastolic dysfunction not uncommon, elevated gradients between LV and aorta due to obstruction 9
Patterns of hypertrophic cardiomyopathy 10
Restrictive cardiomyopathy Other names Idiopathic restrictive (or familial) cardiomyopathy Infiltrative cardiomyopathy Amyloid, sarcoid Hemochromatosis, Fabry s Endomyocardial fibrosis Connective tissue diseases Radiation & chemotherapy Rare but very poor prognosis 11
Restrictive cardiomyopathy -Walls become stiff but not necessarily thickened -Impaired diastolic filling of the ventricle (diastolic dysfunction) often with preserved systolic function initially EKG: Low voltage, conduction abnormalities not uncommon Echo: Bi-atrial enlargement, normal or reduced ventricular volume, often normal wall thickness, normal systolic function with impaired diastolic function 12
Arrhythmogenic right ventricular dysplasia (ARVD) Other names Right ventricular cardiomyopathy Right ventricular dysplasia Rare type of cardiomyopathy 30% of familial origin with a autosomal dominant pattern and most felt to have a genetic basis - genetic testing helpful Tends to occur in teens and young adults Associated with palpitations and syncope and may also be associated with sudden cardiac death (SCD) in young athletes Prognosis is variable Major cause of death is SCD due to ventricular arrhythmias, which may be first symptom 20% of those who die of SCD have ARVD Implantable defibrillators (ICD) often placed to lower risk of SCD 13
Arrhythmogenic right ventricular dysplasia (ARVD) Right ventricular free wall replaced by fat or fibrosis Left ventricle is typically sparred Arrhythmias may be the first symptom, including SCD EKG: abnormal repolarization, epsilon wave at end of the QRS complex, frequent PVCs Echo: segmental wall abnormalities w/wo wall motion abnormalities Abnormal electro-physiologic testing (EP) and cardiac MRI 14
Arrhythmogenic right ventricular dysplasia (ARVD) Epsilon wave 15
Athletic heart syndrome Normal physiologic change (enlargement or cardiomegaly) that can occur in highly trained athletes These changes produce an increased efficiency in heart function allowing the heart to pump more blood with each contraction (stroke volume) at lower heart rates Physiologic response that develops over years of very high intensity endurance training Basketball, marathons, triathlons, XC-skiing, rowing, cycling Regresses w/i 2 years of stopping intense training Key factors for diagnosis History of long term high intensity training No hypertension or valvular disease, no FH of HCM or SCD No symptoms: syncope, chest pain Slow resting HR (40-50s) & soft functional murmurs common EKG: Voltage of LVH w/o strain, Prolonged PR (1 0 or 2 0 block WB) not uncommon Presence of a BBB suggestive of more serious condition Exercise capacity is excellent on stress testing 16
Athletic heart syndrome Key factors for diagnosis Echo: Mild concentric hypertrophy usually <13mm Mild/moderate increase in LV mass LV volume is usually normal to minimally enlarged Normal sized atria Systolic & diastolic function are normal Chest x-ray: may have cardiac enlargement There is no additional mortality associated with AHS Think twice about AHS if: History of hypertension FH of HCM or SCD LVH > 15mm or asymmetric Atrial enlargement Decreased LV capacity Diastolic (or systolic) dysfunction BBB, major ST or T changes on EKG Poor exercise tolerance 17
Athletic heart syndrome 18
Takutsubo cardiomyopathy Also called Broken heart syndrome Stress cardiomyopathy Apical ballooning syndrome Triggered by stressful situations May also be precipitated by a serious illness or surgery An affect of stress hormones (catecholamines) on the myocardium &/or microvasculature of the heart(?) A transient condition associated with focal areas of myocardial dysfunction while the rest of the heart functions normally More common in women and at older ages May be associated with hypotension/shock, HF, thromboembolism Treatable and in those who survive usually resolves within 1 to 4 weeks 11% recurrence within the next year Normal survival thereafter (?) 19
The octopus trap 20
Diagnostic tools for cardiomyopathy Exam: Symptoms or findings of heart failure Shortness of breath, fatigue, nocturnal dyspnea or on exertion Edema, pulmonary congestion, distended jugular veins or abdomen Family history: Especially first degree relatives with h/o CHF, sudden death at younger age Chest X-ray: Enlarged heart, pulmonary vascular congestion EKG: LVH, strain or ischemic pattern, arrhythmias, (or reduced voltage) Lab: B-type natriuretic peptide (BNP) Released by the myocardial cells in response to stretch and stress Independent marker for mortality Genetic testing *Echocardiogram: Ventricular hypertrophy: iv septum, apical, globally (or thin walls) Ventricular dilatation Atrial dilatation Systolic dysfunction: reduced ejection fraction (LVEF Diastolic dysfunction: reduced ventricular filling Cardiac MRI: Cardiac catheterization & coronary angiograms: to rule out CAD 21
Clinical findings for cardiomyopathy 22
Echocardiogram Anterior chest 3 1 2 23
Echocardiogram 24
Echo report 25
Key considerations in underwriting cardiomyopathy Type of cardiomyopathy Age of onset, duration and progression FH Symptoms Syncope, CP, dyspnea, h/o of arrest NYHA functional class Arrhythmias and conduction blocks Presence and severity of hypertrophy Pattern of hypertrophy (obstruction vs non-obstruction) Presence and severity of chamber enlargement Atrial vs ventricular Left vs. right Myocardial function Systolic vs diastolic dysfunction Regional vs global 26