• Tatsuya Nishikawa, Takeshi Aiba, Nobuhiko Ueda, Kenzaburo Nakajima, Yuko Yamada-Inoue, Tsukasa Kamakura, Mitsuru Wada, Kenichiro Yamagata, Kohei Ishibashi, Emi Tateishi, Keisuke Kiso, Yoshihiko Ikeda, Hatsue Ishibashi-Ueda, Koji Miyamoto, Satoshi Nagase, Takashi Noda, and Kengo Kusano.
• Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Japan.
• Intern. Med. 2021 Jan 1; 60 (1): 85-89.

AbstractA 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.

18 keywords...

hide…