Integrating ECG Into the Mayo Score Enhances Genotype Prediction in Hypertrophic Cardiomyopathy.

doi:10.1161/JAHA.125.044501

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Article

Integrating ECG Into the Mayo Score Enhances Genotype Prediction in Hypertrophic Cardiomyopathy.

Journal of the American Heart Association - 17 Feb 2026

Hiruma Takashi, Inoue Shunsuke, Dai Zhehao, Nomura Seitaro, Kubo Toru, Sugiura Kenta, Izumi Yuki, Morisaki Hiroko, Suzuki Atsushi, Kashimura Takeshi, Matsushima Shouji, Goto Keiko, Wanezaki Masahiro, Abe Ryo, Yamada Takanobu, Tobita Takashige, Katoh Manami, Ko Toshiyuki, Ito Masamichi, Ishida Junichi, Amiya Eisuke, Hatano Masaru, Takeda Norifumi, Morita Hiroyuki, Watanabe Masafumi, Minamino Tohru, Yamaguchi Junichi, Inomata Takayuki, Tsutsui Hiroyuki, Takayama Morimasa, Isobe Mitsuaki, Kitaoka Hiroaki, Takeda Norihiko, Komuro Issei

Abstract excerpt

BACKGROUND: In patients with hypertrophic cardiomyopathy (HCM), genetic testing is crucial for cascade screening and risk stratification. However, it remains limited by financial and logistical constraints, necessitating prioritization. The Mayo HCM Genotype Predictor Score, based on clinical and echocardiographic variables, estimates genotype positivity with acceptable performance. Although sarcomeric variants...

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Identifiers

PMID: 41676922
DOI: 10.1161/JAHA.125.044501
PMCID: PMC13055702

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