Internal medicine (Tokyo, Japan) · 2021
Unusual Overlapping Cardiac Sarcoidosis and Long-QT Type 3 Induced Ventricular Fibrillation.
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Nishikawa Tatsuya, Aiba Takeshi, Ueda Nobuhiko, Nakajima Kenzaburo, Yamada-Inoue Yuko, Kamakura Tsukasa, Wada Mitsuru, Yamagata Kenichiro, Ishibashi Kohei, Tateishi Emi, Kiso Keisuke, Ikeda Yoshihiko, Ishibashi-Ueda Hatsue, Miyamoto Koji, Nagase Satoshi, Noda Takashi, Kusano Kengo
Аннотация
A 54-year-old woman had been resuscitated after ventricular fibrillation and her electrocardiogram showed a QT prolongation (QTc=510 ms), and genetic screening revealed a missense variant, R1644C, in the SCN5A gene. She was therefore diagnosed with congenital long-QT syndrome (LQTS) type 3. However, the patient had left ventricular dysfunction, and based on the findings of cardiac magnetic resonance imaging, positron emission tomography and pathological examinations, she was diagnosed with cardiac sarcoidosis. Although both are rare diseases, their overlapping presence in this case may have led to an increased cardiovascular risk compared with either alone. Thus, not only genetic but comprehensive clinical examinations are important for making a correct diagnosis.