Hypertrophic cardiomyopathy (HCM) is the most
common genetic cardiac disease (1/500 to 1/1000)
and is caused by mutations in one or more of 12 genes
encoding protein components of the cardiac sarco-
mere [1]. The phenotypic features of HCM may frst
develop at any age, from infancy to adulthood, and
are characterized by asymmetric left ventricular (LV)
hypertrophy and a nondilated LV cavity [2–5]. Systolic
function is preserved in most patients, and a dynamic
LV outfow obstruction due to systolic anterior motion
of the mitral valve is present under basal conditions in
20% to 25% of patients [2–5]. The diagnosis is tradi-
tionally based on the echocardiographic demonstration
of increased LV wall thickness in the absence of other
cardiovascular diseases capable of producing a similar
magnitude of hypertrophy [2–4]. Magnetic resonance
is particularly useful for establishing the diagnosis in
patients with wall thickening confned to segments not
clearly visualized by the ultrasounds, such as the lateral
free wall or the apical portion of the left ventricle [6,7].
However, thickening of the LV wall resembling HCM
may be present in other genetic disorders, including
Risk Stratification and Prevention Risk Stratification and Prevention
of Sudden Death in Hypertrophic of Sudden Death in Hypertrophic
Cardiomyopathy Cardiomyopathy
Camillo Autore, MD
Giovanni Quarta, MD
Paolo Spirito, MD
Corresponding author
Paolo Spirito, MD
Divisione di Cardiologia, Ente Ospedaliero Ospedali Galliera,
Via Volta 8, Genoa 16128, Italy
E-mail: paolo.spirito@galliera.it
Current Treatment Options in Cardiovascular Medicine 2007, 9:431–435
Current Medicine Group LLC ISSN 1092-8464
Copyright © 2007 by Current Medicine Group LLC
Opinion statement
Sudden cardiac death is the most devastating manifestation of hypertrophic cardio-
myopathy (HCM) and often occurs in young and previously asymptomatic patients.
Therefore, risk stratification for sudden death has a major role in the management of
HCM and has acquired even greater relevance since the implantable cardioverter-
defibrillator (ICD) has proved to be highly effective in preventing sudden death in
this disease. The ICD is definitely indicated for secondary prevention of sudden
death in patients with HCM who have survived a cardiac arrest with documented
ventricular fibrillation, or experienced one or more episodes of sustained ventricu-
lar tachycardia. However, uncertainties persist regarding the precise selection of pa-
tients for primary prophylactic ICD implantation. A number of risk markers are used
to assess the magnitude of risk, including family history of premature sudden death;
extreme left ventricular (LV) hypertrophy (> 30 mm) in young patients; nonsustained
ventricular tachycardia on Holter electrocardiographic recording; unexplained
(not neurally mediated) syncope, particularly in young patients; and blood pressure
decrease or inadequate increase during upright exercise. Multiple risk factors con-
vey a definite increase in risk. However, a single risk factor such as family history
of multiple sudden deaths, massive LV hypertrophy in a young patient, or frequent
and/or prolonged runs of nonsustained ventricular tachycardia on Holter, may also
justify consideration of a prophylactic ICD.
Introduction