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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A case of mixed connective tissue disease complicated with hypertrophic obstructive cardiomyopathy
Hideki Nakamura1, Seiko Tateishi, Atsushi Kawakami
1First Department of Internal Medicine, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City, Nagasaki 852-8501, Japan. nakamura_hideki911@yahoo.co.jp
Abstract:
A 54-year-old female was diagnosed as mixed connective tissue disease (MCTD) complicated with secondary Sjögren's syndrome. Although she had no dyspnea on exertion, the chest X-ray showed cardiomegaly with interstitial pneumonia. The echocardiogram demonstrated asymmetric hypertrophy of the interventricular septum. Diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) was confirmed by left ventriculography and myocardial biopsy. She was treated with prednisolone, resulting in improvement of swollen hand, elevated muscle enzymes and interstitial pneumonia. A rare complication of HOCM with MCTD was described.
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