Hypertrophic Cardiomyopathy: A
Hypertrophic Cardiomyopathy: A "more" common cause of an uncommon event
Brandon Smith, MD
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Introduction
? Sudden cardiac death (SCD) in the young athlete is rare
? Incidence 1:40,000-1:80,0001
? Hypertrophy cardiomyopathy (HCM) is a "more" common cause of SCD
? Past studies suggested that is was the most common cause of SCD in the young (incidence of 30-40%)
? More recent studies have found an incidence of 5-15%2
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What is Hypertrophic Cardiomyopathy?
? Previously known as idiopathic hypertrophic subaortic stenosis (IHSS) or hypertrophic obstructive cardiomyopathy (HOCM)
? Now all known as hypertrophic cardiomyopathy (HCM)
? Progressive hypertrophy of cardiac myocytes, typically in disorganized fashion
? Myocardial fibrosis ? Diastolic and systolic ventricular dysfunction ? Left ventricular outflow tract obstruction ? Atrial and ventricular dysrhythmia
? Reported incidence of 1:200-1:5003
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Pathogenesis and Inheritance
? HCM results in mutations in sarcomere proteins
? Sarcomeres are the contractile units in muscle
? About 50% of cases have identifiable abnormal genetic testing ? Most common gene mutations are in MYBPC3 and MYH7 genes
? Together account for 80% of cases ? Mutations can develop spontaneously but are inherited in autosomal dominant
fashion ? There are many factors that regulate HCM expression so a positive genotype
can yield different phenotypes
? Syndromes with associated phenotype
? Anderson-Fabry, Pompe disease, Danon disease, Noonan syndrome, Costello syndrome, Friedreich ataxia, Leopard syndrome
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Presentation
? Signs and symptoms
? Asymptomatic, dyspnea, chest pain, palpitations, dizziness, syncope, sudden death
? Examination
? Murmur
? Systolic ejection murmur (left ventricular outflow tract obstruction) that increases in intensity with Valsalva maneuvers or change in position from squatting to standing
? Systolic regurgitant (holosystolic) murmur of mitral regurgitation
? Increased left ventricular apical impulse ? S3 or S4 heart sound
? ECG
? Normal ECG occurs in ................
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