PMC3658249_01
Restriction enzyme analysis of mitochondrial DNA.. Notes: The polymerase chain reaction products of mitochondrial DNA isolated from peripheral leukocytes were digested overnight with Apa-1, which cleaves the mutation sequence (GGGCCC) at position 3243 but not the wild-type sequence (GAGCCC). The 137 bp mutant fragment, but not of the wild-type fragment, was observed following digestion by a restriction enzyme Apa-1. Lane 1, positive control containing 10% mutated DNA; lane 2, positive control containing 1% mutated DNA; lane 3, negative control; lane 4, the present case.
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Therefore, analysis of mitochondrial DNA was performed at the age of 56 years, and demonstrated a mitochondrial DNA mutation involving A G transition at nucleotide 3243 (A3243G) in the tRNA Leu (UUR) gene (Figure 1).
(A) Chest roentgenogram showing cardiomegaly with massive pleural effusion. (B) Electrocardiogram at admission.
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Chest radiography showed massive pleural effusion (Figure 2A). An electrocardiogram revealed sinus tachycardia and left ventricular hypertrophy with strain pattern (Figure 2B).
Transthoracic echocardiogram. Parasternal long-axis (A) and short-axis views (B) at end-diastolic phase show slight dilation of the left ventricle and left atrium. (C) Mitral pulsed Doppler flow at admission (left panel), 4 weeks after admission (middle panel), and 8 weeks after admission (right panel).. Notes: Early E and atrial A transmitral maximal flow velocity, and the deceleration time of E were evaluated. At admission, the E/A value and the deceleration time of E were 3.4 and 125 msec, respectively (left panel). At 4 weeks after admission, the E/A value and deceleration time of E were 2.0 and 155 msec, respectively (middle panel). At 8 weeks after admission, the E/A value and deceleration time of E were 1.2 and 190 msec, respectively (right panel).
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As shown in Figure 3, transthoracic echocardiography showed slight dilation of the left ventricle and left atrium, a left ventricular end-diastolic dimension of 53 mm, and a left atrial dimension of 46 mm. Improvement in her symptoms was associated with amelioration of the transthoracic echocardiographic findings (Figure 3C) and a reduction in serum brain natriuretic peptide levels.
Clinical course.
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The patient's clinical course is summarized in Figure 4.