Cardiomyopathies PA 614 Fall 2023 PDF

Cardiomyopathies FCM I PA 614 Fall 2023 Christopher Chillura, MSPAS, PA-C Definitions • Cardiomyopathy: structurally or functionally abnormal cardiac muscle disease that can cause heart failure, dysrhythmias • Idiopathic, acquired or inherited • Major types: • • • • • Dilated Restrictive Hypertro...

Cardiomyopathies FCM I PA 614 Fall 2023 Christopher Chillura, MSPAS, PA-C Definitions • Cardiomyopathy: structurally or functionally abnormal cardiac muscle disease that can cause heart failure, dysrhythmias • Idiopathic, acquired or inherited • Major types: • • • • • Dilated Restrictive Hypertrophic ARVD Unclassified Cardiomyopathy Definition Confusion • Ischemic cardiomyopathy? Hypertensive cardiomyopathy? • Many conditions manifest as one form of cardiomyopathy and progress to another: • Hypertensive heart disease may begin with a hypertrophic pattern, then progress to dilated cardiomyopathy • A disease may have features of more than 1 type of cardiomyopathy • Ex. Sarcoidosis (a connective tissue disease) may have features of restrictive and dilated cardiomyopathy at different times in disease course Cardiomyopathy Epidemiology • Incidence: 5-10% of the 5-6 million patients in US with heart failure • People of all ages and races can have cardiomyopathy • African American descent > Caucasian descent • Men > Women • Teens/young adults are more likely than older people to have arrhythmogenic right ventricular dysplasia Etiology Cardiomyopathy • Inherited (1/3) vs Acquired vs Mixed (predominantly nongenetic; less commonly genetic) • Genetic cardiomyopathies : HCM, ARVD • Acquired cardiomyopathies: myocarditis, stress-induced (Takotsubo), peripartum, tachycardia-induced, and infants of insulin-dependent mothers with DM • Mixed cardiomyopathies: DCM, RCM Cardiomyopathy Risk Factors • Family history of cardiomyopathy, heart failure, or sudden cardiac death • Ischemic heart disease, heart attack, viral myocarditis • Diabetes, severe obesity • Hemochromatosis, sarcoidosis, or amyloidosis • Long-term alcoholism, drug use • Long-term high blood pressure (hypertensive heart disease) Cardiomyopathy Presentation • Asymptomatic • Heart failure presentation: • Shortness of breath or trouble breathing • Fatigue • Peripheral edema • Arrhythmia/palpitations • Syncope Cardiomyopathy Treatment Goals (generally) • To slow down the disease • To control symptoms • To prevent sudden death • Lifestyle changes: diet and physical activity, stress reduction, alcohol/drug avoidance • Heart failure therapies • Arrhythmia therapies and avoidance •Dilated Cardiomyopathy Dilated Cardiomyopathy • Dilation and impaired contraction of one or both ventricles • Dilation often becomes severe and is invariably accompanied by an increase in total cardiac mass (hypertrophy) • Impaired systolic function and +/- heart failure • Can include atrial and/or ventricular arrhythmias, and sudden death can occur at any stage of the disease Dilated Cardiomyopathy (DCM)Epidemiology • Epidemiology: 5-8/100k, prevalence of 36/100k • 46,000 hospitalizations and ~10,000 deaths each year in US • Primary indication for cardiac transplantation • Most between ages of 20-60, but can occur in children/older adults • Minority of idiopathic DCM have familial disease • Mode of inheritance is usually autosomal dominant, although autosomal recessive, X-linked, and mitochondrial inheritance have also been described Dilated Cardiomyopathy Etiology • Cause often unknown, ~1/3 inherited • Considered idiopathic if primary and secondary causes of heart disease (eg, myocarditis and coronary artery disease) are excluded by evaluation including history and physical examination, laboratory testing, coronary angiography Dilated Cardiomyopathy Etiology • • • • • • • • • • • Idiopathic – 50% Myocarditis – 9% Ischemic heart disease – 7% Infiltrative disease – 5% Peripartum cardiomyopathy – 4% Hypertension – 4% HIV infection – 4% Connective tissue disease – 3% Substance abuse – 3% Doxorubicin – 1% Other – 10% Dilated Cardiomyopathy Presentation • Symptoms of heart failure • • • • Progressive dyspnea with exertion Impaired exercise tolerance orthopnea Paroxysmal nocturnal dyspnea Peripheral edema (symptom or sign) • Symptoms related to coexisting arrhythmia, conduction disturbance, thromboembolic complications, or sudden death • Asymptomatic Dilated Cardiomyopathy Presentation • Heart failure signs: • • • • Lung base crackles Jugular venous distension (JVD) Hepatojugular reflux (HJR) Peripheral edema • PMI displacement • Gallops • Arrhythmia Dilated Cardiomyopathy Diagnosis Echocardiogram: • Normal or decreased wall thickness • Reduced inward endocardial systolic motion • ↑ chamber dimensions, LV cavitary dilation (with a tendency for the shape of the cavity to become less ovoid and more spherical) • ↓ ejection fraction • Mitral and tricuspid valve regurgitation • Wall motion abnormalities • Left atrial enlargement (less often, right ventricular enlargement and dysfunction) Dilated Cardiomyopathy Diagnosis • ↑BNP • CXR: cardiomegaly, interstitial edema, pleural effusion • ECG: LVH, LAE, (+/- RVH/RAE), +/conduction abnormalities • Cardiac catheterization: +/- CAD • Right heart catheterization: ↑PCWP Dilated Cardiomyopathy Treatment • Treatment of underlying cause • Lifestyle: exercise (limited), weight loss, decrease salt intake, smoking/EtOH/drugs cessation • Medications: • • • • ACEIs/ARBS Beta blockade Diuretics Inotropes • Implantables: ICD, LVAD • Heart Transplant •Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy • Out with the old: IHSS, HOCM • In with the new: Hypertrophic Cardiomyopathy- with or without obstruction • Heterogeneous disorder caused by variety of mutations associated with hypertrophy of the left ventricle (occasionally of the right ventricle): 50% with recognizable autosomal dominant pattern • Hypertrophy of the myocardium > 1.5 cm, without an identifiable cause • Symmetric/concentric hypertrophy vs asymmetric (interventricular or apical prominence) Hypertrophic Cardiomyopathy • Any area of left ventricle can be affected • Interventricular septum most common site of hypertrophy- which can result in outflow tract obstruction- 2/3 have obstruction feature in the left ventricle after provocation or even while at rest • Degree of obstruction does not correlate with the risk of sudden cardiac death- SCD more related to arrhythmia • Impaired left ventricular compliance results in diastolic dysfunction, whether or not outflow tract obstruction is present • +/- Abnormal coronary arteries (due to intramural abnormalities): thickened intima, vessel narrowing and possible inability to supply the O2 demand of the hypertrophied myocardium causing ischemia, cell death, and scar formation Hypertrophic Cardiomyopathy Epidemiology • Prevalence 1:500 of the adult population • Age range: newborn to elderly • Most commonly diagnosed in 3rd decade • 25% 1st degree relatives with + ECHO • Men > women • African American descent > Caucasian descent • In young adults, HCM is the most common cause of sudden cardiac death with exertion Hypertrophic Cardiomyopathy Presentation Most asymptomatic Dyspnea on exertion (DOE) Chest pain with exertion Syncope or near syncope Palpitations Severity of mitral regurgitation and diastolic dysfunction more associated with the appearance of symptoms (vs. occurrence of LVOT obstruction) • Heart failure • Sudden Cardiac Death (SCD) • • • • • • Hypertrophic Cardiomyopathy Presentation • The classic auscultatory finding for HCM: crescendo-decrescendo systolic murmur along the left sternal border that ↑ with the valsalva maneuver • Valsalva maneuver decreases preload, which results in decreased filling of the left ventricle, causing narrowing of LVOT Hypertrophic Cardiomyopathy SCD • May be 1st clinical manifestation (even among asymptomatic patients) • Highest incidence in preadolescent and adolescent children -typically associated with sports or vigorous exertion • Ventricular Fibrillation- lethal arrhythmia of great majority of cases Hypertrophic Cardiomyopathy Diagnostics • ECHO: TTE - standard for diagnosis • Bloodwork- generally unremarkable • CXR- possible LVH, but often normal because the hypertrophy commonly involves the ventricular septum • ECG: LVH, Lateral/Inferior Q waves • Cardiac catheterization of some value, but echocardiography study of choice Hypertrophic Cardiomyopathy Diagnostics • Genetic testing $$$ • Allows for identification of those possessing mutations associated with HCM• Diagnosis of HCM as a clinical entity will still require an imaging modality that visualizes myocardial hypertrophy • Note: subjects may have the HCM genotype without the phenotypic manifestations of HCM Hypertrophic Cardiomyopathy Treatment • Beta Blockers = 1st line treatment for symptomatic HCM • Septal/apical myectomy – generally the gold standard (if refractory to medical therapy) • Alcohol ablation • ICD • Heart transplantation • Lifestyle modifications • Hydration • Avoidance of strenuous weightlifting (increases the afterload to the myocardium and can worsen hypertrophy) • Since ↑ risk of sudden cardiac death: avoidance of competitive athletics Screening Hypertrophic Cardiomyopathy Screening & Sports clearance options: • History: family history of HCM/SCD? • Physical: Systolic murmur LSB? Radiation to RSB? Worse with valsalva? • ECG: LVH? Lateral/inferior Q waves. Remember pediatric ECG amplitude! • CXR: +/- cardiomegaly • ECHO: definitive •Restrictive Cardiomyopathy Restrictive Cardiomyopathy • Non-dilated ventricles with impaired ventricular filling (diastolic dysfunction/decreased compliance) • Hypertrophy typically absent • Systolic function usually remains normal, at least early in the disease • Some common etiologies: • • • • • • Amyloidosis Connective tissue disorders Hemochromatosis Sarcoidosis Radiation and chemotherapy Idiopathic Restrictive Cardiomyopathy Epidemiology • 5% of all cardiomyopathies • Etiologies have unique epidemiology • Amyloidosis: M=F • Sarcoidosis: F>M, African American descent > Caucasian descent Restrictive Cardiomyopathy Presentation • Progressive shortness of breath, exercise intolerance, orthopnea, fatigue, PND • Cardiac gallop is frequently present with restrictive cardiomyopathy • The left ventricular impulse is usually normal with restrictive cardiomyopathy • Signs of heart failure Restrictive Cardiomyopathy Diagnostics Echocardiogram: • Nondilated, nonhypertrophied ventricles with moderate to marked bi-atrial enlargement (secondary to elevated atrial pressures) • Normal or near normal left ventricular systolic function and cavity size • Abnormal diastolic function: doppler assessment sensitive for the detection of filling abnormalities Restrictive Cardiomyopathy Diagnostics • Amyloidosis: CBC (anemia, ↓ PLTS), ↑SCr, Albuminuria, ↑Troponin, monoclonal protein studies • Hemochromatosis: LFTs, polycythemia, iron studies • Eosinophilic myocarditis: elevated eosinophils • Liver function tests: hemochromatosis • EKG: Nonspecific, +/- LAE/RAE • CXR can demonstrate cardiomegaly secondary to significant atrial enlargement with pulmonary venous congestion and pleural effusions • Elevated BNP • Biopsy Copyrights apply Restrictive Cardiomyopathy Treatment • Directed at underlying etiology (no specific treatment) • Ex: phlebotomy and chelation for hemochromatosis, chemotherapy for amyloidosis, corticosteroid/immunosuppressants for sarcoidosis • Mainstays: diuretics, vasodilators, and ACEIs as indicated • Implantables: pacemaker, LVAD • Heart transplantation •Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic Right Ventricular Dysplasia • Rare cardiomyopathy involving muscle tissue in the right ventricle replaced by fatty or fibrous tissue • Can lead to conduction abnormalities/arrhythmias • Usually affects teens or young adults and can cause sudden cardiac arrest in young athletes • Etiology: genetic mutation in most cases Arrhythmogenic Right Ventricular Dysplasia • Symptoms: dizziness, palpitations, syncope, atypical chest pain and dyspnea (as many as 40% ARVC are asymptomatic) • The frequency of ventricular arrhythmias varies with severity of ARVD • Most common arrhythmia is monomorphic VT (sustained or non-sustained) • Workup: EKG/ECHO • ECHO: Right ventricular function is abnormal, with regional wall abnormal movement. In severe cases: global right ventricular dilation Arrhythmogenic Right Ventricular Dysplasia • No known curative treatment • Management of heart failure/arrhythmias: beta blockers and antiarrhythmics, radiofrequency ablation, surgery, cardiac transplantation, and lifestyle changes • The primary goal of treatment is to prevent sustained ventricular arrhythmias and/or sudden death • ICD placement is the only proven mortality benefit •Stress Cardiomyopathy Stress Cardiomyopathy • Takotsubo cardiomyopathy • Apical ballooning syndrome • Broken heart syndrome • Stress-induced cardiomyopathy • Transient regional systolic dysfunction mostly affecting the left ventricle, clinically mimicking myocardial infarction but without obstructive coronary artery disease and extending beyond vessel distribution Stress Cardiomyopathy Epidemiology & Etiology • ~1-2% of patients with + troponin and suspected acute coronary syndrome or suspected STEMI • 90% women, predominantly older adults- average age 66 • Etiologic theories: • Catecholamine excess • Microvascular dysfunction • Coronary artery spasm • Reports of familial cases- genetic predisposition? • Psychiatric or neurologic predisposition? Stress Cardiomyopathy Presentation • Similar to Acute Coronary Syndrome • Frequently but not always triggered by intense emotional or physical stress (eg, death of relatives, particularly if unexpected, domestic abuse, arguments, catastrophic medical diagnoses, devastating financial or gambling losses, natural disasters, or acute medical illness) • Most common symptoms: are acute substernal chest pain, dyspnea or syncope Stress Cardiomyopathy Presentation • Signs of heart failure, tachyarrhythmias, bradyarrhythmias, sudden cardiac arrest, or significant mitral regurgitation • ~10% develop cardiogenic shock (hypotension, abnormal mental status, cold extremities, oliguria, or respiratory distress) • Left ventricular outflow hyperkinesis may cause outflow obstruction, presenting with late peaking systolic murmur, similar to hypertrophic cardiomyopathy Stress Cardiomyopathy Diagnostics • ST segment elevation ~47% (most commonly in the anterior precordial leads mimicking STEMI) • Less common: ST depression, long QT, T wave inversion, significant Q waves • Troponin elevated in all patients • BNP elevated in most • ECHO: left ventricular movement abnormalities • Cardiac catheterisation Stress Cardiomyopathy ECHO https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-stress-takotsubocardiomyopathy?search=takotsubo%20cardiomyopathy&source=search_result&selectedTitle=1~84&usage_type=default& display_rank=1#H39231880 Stress Cardiomyopathy Diagnostic Criteria • Transient LV systolic dysfunction (hypokinesis, akinesis, or dyskinesis) • Absence of obstructive coronary disease or angiographic evidence of acute plaque rupture • New ECG abnormalities (either ST-segment elevation and/or T wave inversion) or elevation in cardiac troponin. • Absence of pheochromocytoma or myocarditis Stress Cardiomyopathy Treatment • Generally transient and managed with supportive therapy • Conservative treatment and resolution of physical or emotional stress usually results in rapid resolution of symptoms (some patients develop acute complications such as shock and acute heart failure requiring intensive therapy • Heart failure management follows standard guidelines for HFrEF except care taken to avoid volume depletion and vasodilator therapy in patients with left ventricular outflow tract obstruction Stress Cardiomyopathy Treatment • If intraventricular thrombus → anticoagulation x three months • If severe left ventricular dysfunction (EF <30%) and low bleeding risk, anticoagulation recommended until the akinesis or dyskinesis has resolved or for three months, whichever is shorter Stress Cardiomyopathy Prognosis • In-hospital mortality ~ 3-4% • Patients who survive the acute episode typically recover systolic left ventricular function within one to four weeks • Risk of recurrence ~ 1-2% per year Copyrights apply Copyrights apply