Hiroshi Kawakami, Akiyoshi Ogimoto, Naohito Tokunaga, Kazuhisa Nishimura, Hideo Kawakami, Haruhiko Higashi, Chiharuko Iio, Tamami Kono, Jun Aono, Teruyoshi Uetani, Takayuki Nagai, Katsuji Inoue, Jun Suzuki, Shuntaro Ikeda, Takafumi Okura, Yasumasa Ohyagi, Yasuharu Tabara, Jitsuo Higaki
The cardiac phenotype of laminopathies is characterized by cardiac conduction disorders (CCDs) and dilated cardiomyopathy (DCM). Although laminopathies have been considered monogenic, they exhibit a remarkable degree of clinical variability. This case series aimed to detect the causal mutation and to investigate the causes of clinical variability in a Japanese family with inherited CCD and DCM.Of the five family members investigated, four had either CCD/DCM or CCD alone, while one subject had no cardiovascular disease and acted as a normal control...
April 6, 2018: International Heart Journal