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[A case of left ventricular apical hypoplasia].

Zhonghua xin xue guan bing za zhi - 24 Mar 2026

Huang Y T, Qiu L W, Han D, Hua L, Xi Q Y, Zhong X B, Gao L, Zeng H

Abstract excerpt

左心室心尖发育不全是一种罕见先天性异常疾病，临床表现缺乏特异性，易漏诊误诊。目前其病因尚未明确，已知可能与层膜蛋白A/C基因突变相关。该文报道1例经超声心动图、心脏磁共振确诊的左心室心尖发育不全病例，患者及其家属（肥厚型心肌病）均携带MYBPC3基因，提示MYBPC3突变与心肌发育异常可能存在更广泛表型关联，为左心室心尖发育不全的病因探索及基因关联研究提供方向。.

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PMID: 41866213
DOI: 10.3760/cma.j.cn112148-20260203-00075

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