1. Hypertrophic Cardiomyopathy Guidelines Summary from the: ACC/ESC Clinical Expert Consensus Statement on Hypertrophic Cardiomyopathy Maron BJ, et al. J Am Coll Cardiol 2003; 42: 1687-713 And ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities Epstein AE et al. Heart Rhythm 2008;5:934-55

2. Hypertrophic Cardiomyopathy Guidelines Joseph Blackshear, MD Mayo Clinic Jacksonville, FL

3. www.HRSonline.org Hypertrophic Cardiomyopathy: LVH ≥ 15 mm, without hypertension, aortic stenosis etc 25% with LVOT obstruction Maron BJ et al. JACC 2003;42:1687

4. www.HRSonline.org HCM, epidemiology and genetics  1:500 persons  600,000 persons in US  Most common cause of SCD, age < 40 yr  Most common cause of SCD, competitive athletes  Data on management derived from registries, practice  With no SCD risk factors: 90 % predictive value for freedom from SCD, BUT 3- 5% may still suffer SCD  Heritable: 11 genes, > 1,000 mutations  60% have identifiable abnormal genotype  Predominantly autosomal dominant inheritance

5. www.HRSonline.org Approach to Hypertrophic Cardiomyopathy Symptomatic treatment  Exertional dyspnea  Angina  Arrhythmias, including leading to SCD Prevention of sudden cardiac death  ICD for primary or secondary prevention Screening of relatives  History, exam, ECG, echo, MRI

6. www.HRSonline.org Symptomatic treatment  Class I: no drugs.  Class II: beta blocker, verapamil, or disopyramide. possibly low dose diuretics. Avoid vasodilators and inotropes.  Class III/IV: despite maximal medical management, surgical septal myectomy; consideration of alcohol septal ablation (or pacing) in selected patients.

7. www.HRSonline.org Prevention of Sudden Cardiac Death  Data from Registry, mean age 42, n=506, 4 yr follow up.  Resuscitated cardiac arrest or sustained VT: 11% appropriate shocks per year after ICD implantation.  Primary prevention, ≥ 1major risk factor: 4% appropriate shocks per year after ICD implantation.

8. www.HRSonline.org Risk Factors for SCD in HCM Major, established  Cardiac arrest/ Sustained VT  Family history of SCD  Unexplained syncope  LV thickness ≥ 30 mm  Abnormal BP response to exercise  NSVT on Holter Possible  LV outflow obstruction ≥ 30 mm Hg  Intense physical exertion (competitive sports)  Late gadolinium enhancement (scar) on contrast MRI  Alcohol septal ablation

9. www.HRSonline.org Registry of 506 patients who received ICDs at 42 medical centers in US, Europe, and Australia Mean age 42 years Functional class: I: 55%, II: 32%, III/IV: 13% ≥ 30 mm Hg mean gradient: 25% 3.7 year mean follow up Complications: 27 % inappropriate shocks, 4% infection, 2% hemorrhage or thrombosis, 7% lead fracture Maron BJ et al JAMA 2007; 298: 405

10. www.HRSonline.org Indications for ICD  Secondary protection  Cardiac arrest  Spontaneous sustained VT  Primary prevention  One or more major risk factors

11. www.HRSonline.org Genetic Testing and Screening (Irrelevant for risk stratification) Only a few mutations predict a high risk for sudden death or rapid progression to terminal CHF. If (+) for causal mutations, relatives may be ruled in/out by testing. If (–) for causal mutation, clinical screen of family of affected proband: begin at age 12, annually with echo, ECG, Holter, exam. If negative by age 18, continue Q 5 yr.