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Volume 9, Issue 1, Pages (January 2012)

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1 Volume 9, Issue 1, Pages 57-63 (January 2012)
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors  Barry J. Maron, MD, Martin S. Maron, MD, Christopher Semsarian, MB, BS, PhD  Heart Rhythm  Volume 9, Issue 1, Pages (January 2012) DOI: /j.hrthm Copyright © 2012 Heart Rhythm Society Terms and Conditions

2 Figure 1 Pedigree of Family T. The proband with resuscitated cardiac arrest at age 37 years (but with no conventional risk factors) is indicated by black arrow. Cardiovascular magnetic resonance and echocardiogram strop-frame images show the pattern of left ventricular hypertrophy in each of the 3 affected patients: apical in (A) and (C) (*) and anterior ventricular septal in (B). Electropherograms show the identified mutations. Squares = males; circles = females; solid black symbols = clinically affected with hypertrophic cardiomyopathy (HCM); N = normal on clinical screening with electrocardiogram and imaging studies; clear symbols = without cardiac evaluation; Solid symbol transected by dotted line = HCM-related resuscitated cardiac arrest (RCA); + = heterozygote for mutation; number in brackets = age (in years). SCD = sudden cardiac death; Gene symbols: MYBPC = myosin-binding protein C; TNNI3 = cardiac troponin I. Heart Rhythm 2012 9, 57-63DOI: ( /j.hrthm ) Copyright © 2012 Heart Rhythm Society Terms and Conditions

3 Figure 2 Pedigree of Family H. The proband with resuscitated cardiac arrest at age 31 years (but with no conventional risk factors) is indicated by black arrow. Cardiovascular magnetic resonance stop-frame image in the proband shows ventricular septal (VS) hypertrophy. Electropherograms show the identified mutations. Squares = males; circles = females; solid black symbols = clinically affected with hypertrophic cardiomyopathy (HCM); N = normal on clinical screening with electrocardiogram and imaging studies; clear symbols = without cardiac evaluation; symbols transected by solid line = HCM-related cardiac arrest and death; Solid symbol transected by dotted line = HCM-related resuscitated cardiac arrest (RCA); + = heterozygote for mutation; number in brackets = age (in years). Gene symbols: MYBPC = myosin-binding protein C; TNNI3 = cardiac troponin I. The genotype status for the deceased 75-year-old grandfather of the proband was inferred from the genotypes of his spouse and children. No genetic testing was conducted in the grandfather. Heart Rhythm 2012 9, 57-63DOI: ( /j.hrthm ) Copyright © 2012 Heart Rhythm Society Terms and Conditions

4 Figure 3 Pedigree of Family O. The proband with sudden cardiac death at age 57 years (but with no conventional risk factors) is indicated by black arrows. Electropherograms show the identified mutations. Echocardiogram in the proband shows the pattern of ventricular septal (VS) hypertrophy. Squares = males; circles = females; N = normal on clinical screening with electrocardiogram and imaging studies; clear symbols = without cardiac evaluation; Solid symbol transected by solid line = HCM-related cardiac arrest and death; + = heterozygote for mutation; number in brackets = age (in years). SCD = sudden cardiac death. Gene symbols: MYBPC = myosin-binding protein C. Heart Rhythm 2012 9, 57-63DOI: ( /j.hrthm ) Copyright © 2012 Heart Rhythm Society Terms and Conditions


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