PMC2838361_01
Pedigree of the adoptee. The proband is highlighted by the arrow. The proband carries two sequence variations within the MYH7 (cardiac beta-myosin heavy chain gene): 2156G>A (R719Q) change in exon 19 (marked by a shaded area on upper left hand corner), and 4537A>T (T1513S) on exon 33 (the shaded area on the lower left hand corner). Cardiac hypertrophy is marked by shaded area on upper right-hand corner). SCD: sudden cardiac death. ICD: internal cardiac defibrillator placed (dot).
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fig1
At the time of the initial evaluation, the proband's family history, obtained through the natural MGM, was notable for hypertrophic cardiomyopathy (HCM) in her maternal uncle (diagnosed on autopsy following SCD at age 15), maternal grandfather (s/p ICD for HCM), and two maternal great aunts (SCD at age 16 and 36) (Figure 1).
Evolution of ECG in the proband. (a) The proband's ECG at age 14 years. It is notable for Q-waves in lateral and inferior leads with nonspecific ST- and T-wave changes. (b) The proband's ECG at age 15 years. It is notable for right bundle branch block with left posterior fascicular block, Q waves in lateral, and inferior leads.
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fig2
However, the proband's ECG did show nonspecific ST-T wave changes (Figure 2(a)). At 15 years, the proband's ECG showed right bundle branch block, right posterior fascicular block, and Q waves in the lateral and inferior leads (Figure 2(b)).
Focal hypertrophy noted on the proband's cardiac MRI. (a) 2-chamber end-diastole view. *marks the focal thickening (2.7 cm, thick x 1.8 cm, length) of the anterior wall at the base of the left ventricle. (b) 4-chamber end-diastole view.
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fig3
An MRI performed two weeks later showed normal overall left ventricular mass at 67 g/m sq and normal interventricular septal and posterior wall thickness, but also revealed a prominent 2.7 cm thickening of the anterior wall at the base of the left ventricle (Figure 3).
PMC2838361_02
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