A case of mitochondrial cardiomyopathy  with pericardial effusion evaluated  by (99m)Tc-MIBI myocardial scintigraphy.
Heart failure is important in determining the prognosis of cardiomyopathy caused by mitochondrial gene abnormalities. We report herein the case of a patient with pericardial effusion and heart failure in whom mitochondrial cardiomyopathy was definitively diagnosed. A 56-year-old woman consulted her primary physician with exertional dyspnea. Examination revealed edema and pericardial effusion, and diuretics were prescribed. However, after marked left ventricular hypertrophy (LVH) was noted, she was admitted to our hospital for further evaluation. Further examination revealed short stature, ptosis, generalized muscle atrophy, and sensorineural hearing loss. Echocardiography showed LVH, a global decrease in wall motion, and pericardial effusion. Physical and laboratory findings, including glucose intolerance and elevated serum lactate, suggested mitochondrial cardiomyopathy. Genetic testing confirmed cardiomyopathy due to a mitochondrial a3243g mutation. After treatment to improve heart failure, marked washout was shown on (99m)Tc-MIBI (methoxyisobutylisonitrile) myocardial scintigraphy, suggesting a correlation with mitochondrial dysfunction.
Yajima
Noriyuki
N
Division of Cardiology, Nagano National Hospital, Ueda 386-8610, Japan. n.yajima@nagano-hosp.go.jp
Yazaki
Yoshikazu
Y
Yoshida
Kunihiro
K
Sano
Kenji
K
Takahashi
Wataru
W
Sasaki
Yasuyuki
Y
Ikeda
Uichi
U
D005260:Female; D006333:Heart Failure / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics; D010490:Pericardial Effusion / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D017256:Technetium Tc 99m Sestamibi
D019275:Radiopharmaceuticals; D017256:Technetium Tc 99m Sestamibi