HCM基因突变与超声表型关联：2025心脏形态发生机制解析

Intracardiac remodeling and hypertrophy visualized at the organ level using ultrasonography have notable genetic components. Bos et al. (2009) indicated that various anatomic distributions of hypertrophy are associated with different mutation rates in sarcomeric genes (Bos et al., 2009). More detailed analysis indicated that patients with rare apical localization of LVH have the lowest rate of sarcomeric mutations (25%) compared to the overall HCM cohort (34%) and, more notably, compared to those with LVH localized in the subaortic area (“reverse curve”) with a marked pressure gradient (42%) (Towe et al., 2015). A highly specific ECG pattern, characterized by a giant negative T-wave in the left precordial leads, was recognized by H. Yamaguchi as a hallmark of apical HCM since 1976 (Yamaguchi et al., 1979). The origin of this specific pattern is still not well-defined, but it presumably reflects cardiac geometry or apical ischemia rather than particular genes or mutations. However, no apparent gene- or mutation-related specificities were observed. The decrease in strict reproducibility at the whole organ level can be explained by the considerable complexity of cardiac morphogenesis, which requires complex interactions of different genetic pathways within one cell and co-interactions of various cells from multiple embryonic origins.