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Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome

Multicenter study in Japan

Wataru Shimizu, MD, PhD^*,*, Minoru Horie, MD, PhD, Seiko Ohno, MD, Kotoe Takenaka, MD, Masato Yamaguchi, MD, PhD^||, Masami Shimizu, MD, PhD^||, Takashi Washizuka, MD, PhD^¶, Yoshifusa Aizawa, MD, PhD^¶, Kazufumi Nakamura, MD, PhD^#, Tohru Ohe, MD, PhD^#, Takeshi Aiba, MD, PhD^**, Yoshihiro Miyamoto, MD, PhD, Yasunao Yoshimasa, MD, PhD, Jeffrey A. Towbin, MD, Silvia G. Priori, MD, PhD and Shiro Kamakura, MD, PhD^*

^* Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
Laboratory of Molecular Genetics, National Cardiovascular Center, Suita, Japan
Department of Cardiopulmonary Medicine, Shiga University of Medical Science, Ohtsu, Japan
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
^|| Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan
^¶ Division of Cardiovascular Medicine, Niigata University Graduate School of Medical and Dental Science, Niigata, Japan
^# Department of Cardiovascular Medicine, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
^** Department of Cardiovascular Dynamics, Research Institute, National Cardiovascular Center, Suita, Japan
Department of Pediatrics (Cardiology), Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Molecular Cardiology, Salvatore Maugeri Foundation, IRCCS, Pavia, Italy

View larger version (75K): [in a new window]   Figure 1 Electrocardiographic parameters in lead V5 before and after exercise in LQT1 patients with mutations located in the transmembrane region (A341V, non-proband, 16-year-old male) (A and B) and in the C-terminal region (D611Y, non-proband, 16-year-old male) (C and D). The baseline corrected Q-Tend (cQ-Tend), Q-Tpeak (cQ-Tpeak), and Tpeak-end (cTpeak-end) intervals were greater in the patient with a transmembrane mutation than in the patient with a C-terminal mutation (A and C). Exercise produced more prominent increases in the cQ-Tend and cTpeak-end in the patient with a transmembrane mutation than in the patient with a C-terminal mutation (B and D).

View larger version (19K): [in a new window]   Figure 2 (A) Kaplan-Meier cumulative cardiac event curves from birth through to age 50 years for a total of 95 patients with KCNQ1 mutations located in the transmembrane regions (n = 66) and C-terminal regions (n = 29). The difference in the clinical course by mutation location was significant (log-rank, p = 0.005), with a greater risk of first cardiac events in patients with transmembrane mutations than in those with C-terminal mutations. Kaplan-Meier cumulative cardiac event curves for 37 probands (B) and 58 non-probands (C) with transmembrane mutations and C-terminal mutations.