Hypertrophic Cardiomyopathy ICM-9CM Code 425.4 Cardiomyopathy, Hypertrophic Non-Obstructive 425.1 Cardiomyopathy, Hypertrophic Obstructive 746.

84 Cardiomyopathy, Hypertrophic Congenital 1. Etiology: A. Genetic: Autosomal Dominant Disorder With Variable Penetrance By Mutations In Any Of One Ten Genes, Each Encoding Proteins Of Cardiac Sarcomere 1. Examples A. Gene Coding For Heavy Chain Of Beta Myosin B. Gene Coding For Tropomyosin C. Gene Coding For Troponin T and I D. Gene Coding For Myosin Light Chains 2. Epidemiology: A. A Familial Form: 1. Diagnosed In Young Patients & Mapped To Chromosome 14q. A. A Missense Mutation In One Of 10 Genes That Code The Proteins Of The Cardiac Sarcomere B. A Sporadic Form 1. Usually In The Elderly C. To Date: More Than 200 Different Hypertrophic Cardiomyopathy Causing Mutations Have Been Reported

3. Pathology: A. Myocardial Hypertrophy Especially Of The 1. Left Ventricle 2. Interventricular Septum Esp. IHSS A.IHSS Systolic Anterior Motion Of The Mitral Valve Leaflet During Systole Due To A Thickened Anterior Mitral Leaflet And Adjacent Septum Endocardium Coming Into Contact B. Microscopic: 1. Haphazard Arrangement Of Hypertrophied Abnormally Branching Myocytes 4. Physical Findings : A. Harsh Systolic, Diamond Shaped Murmur At the Left Sternal Border Or Apex That 1. Increases With Valsalva Maneuver 2. Decreases With Squatting B. Paradoxical Splitting of S2 (If LV Obstruction Is Present) C. S4 D. Double Or Triple Apical Impulse E. Increased Obstruction If: 1. Drugs: A. Digitalis B. Beta Adrenergic Stimulation Isoproterenol Dopamine Epinephrine Nitroglycerin Vasodilators Diuretics Alcohol 2. Hypovolemia 3. Tachycardia 4. Valsalva Maneuver 5. Standing Position

F. Decreased Obstruction If: 1. Drugs: A. Beta Adrenergic Blockers B. Calcium Channel Blockers C. Disopyramide D. Alpha-Adrenergic Stimulators 2. Volume Expansion 3. Bradycardia 4. Hand Grip Exercise 5. Squatting Position 5. Clinical Findings: A. Dyspnea B. Syncope: Especially With Exercise C. Angina: Decreases in Recumbent Position D. Palpitations 5. WorkUp: A. Two Dimensional Echocardiography B. Continuous Wave Doppler Cardiography 1. To Diagnose Obstruction C. EKG: 1. LVH 2. Abnormal Q Waves In Anterolateral and Inferior Leads D. 24 Hour Holter Monitor 1. Screen For Potential Arrhythmias A. Principal Cause of Syncope & Sudden Death B. Perform Initially And Annually E. Exercise Testing A. Should Be Performed On Annual Basis

6. Imaging Studies: A.CXR: Cardiomegaly B.EKG: LVH Abnormal Q Waves In Anterolateral & Inferior Leads C.ECHO: Ventricular Hypertrophy 1. Septal Thickness to LV Wall Thickness Ratio: 1.3/1 D. Increased Ejection Fraction E. MRI: Identifies Segmental LVH Undetectable By Echocardiography 7. Rx. A. Non-Pharmacologic Therapy: 1. Avoid Alcohol 2. Avoid Dehydration 3. Avoid Strenuous Exertion B. General Rx: 1. Propanolol: 160-240 Mg/Day A. Decreases HR With Improved Filling Of The Ventricles During Diastole B. Decreased Inotropic Effect Lessens Myocardial Oxygen Demand 2. Verapamil: A. Decreases LVOT Obstruction B. Improves Filling and Reduces Myocardial Ischemia C. Second Line Agent Who Cannot Tolerate Beta-Blockers 3. IV Saline Infusions In Addition to Propanolol & Verapamil In Patients With CHF 4. Antibiotic Prophylaxis For Surgical Procedures 5. Avoid Digitalis, Diuretics, Vasodilators and Nitrates 6. DDD Pacing : Encouraging Results A. For Hemodynamic & Symptomatic Benefit In Drug Resistant Hypertrophic Obstructive Cardiomyopathy

7. Implantable Defibrillators: A. HCM Patients Prone To Arrhythmias B. Strongly Warranted For: 1. Patients With Prior Cardiac Arrest 2. Patients With Sustained Spontaneous Ventricular Tachycardia 8. Dual Chamber Pacemakers: A. Not Shown To Result In Improvement In Objective Measures Of Exercise Capacity 8. Disposition A. Low Risk Patients If: They Have None Of The Following 1. No Symptoms 2. A Family History Of Premature Death Caused By Hypertrophic Cardiomyopathy 3. Non Sustained Ventricular Tachycardia 4. Marked Outflow Tract Gradient 5. Sustained Hypertrophy: > 20 mm Hg 6. Marked Left Atrial Enlargement 7. Abnormal BP Response During Exercise 9. Course of Disease: A. Some Adults Experiences Subtle Regression In Wall Thickness B. Other Patients Evolve Into End Stage Dilated Cardiomyopathy With: 1. Cavity Enlargement 2. LV Wall Thinning 3. Diastolic Dysfunction

9. Referral: A. Surgery: Myotomy- Myectomy 1. Involves Basal Septum 2. If Large Outflow Gradient: > 50 mm Hg & Severe Symptoms Of Heart Failure 3. Risk of Sudden Death Is Not Altered By Surgery 4. If Excellent Surgical Referral Center: With Operative Mortality of < 2%: A. Patients Achieve Normal Exercise Post Capacity Post-Operatively. B. Non Surgical Approaches: 1. Controversial 2. Involve Injection Of Ethanol In Septal Perforator Branch Of LAD Artery 3. Produces a Controlled MI In The IV Septum 4. May Lead To Subjective & Objective Increases In Exercise Capacity 5. But Is Associated With High Incidence Of Heart Block In 25% Of Patients