[A case of left ventricular apical hypoplasia].

Left ventricular apical hypoplasia (LVAH) is a rare congenital anomaly that lacks specific clinical manifestations and is easily missed or misdiagnosed.

• The condition is described as a rare congenital anomaly (罕见先天性异常疾病)
• Clinical presentations are nonspecific, contributing to diagnostic difficulty
• The etiology remains unclear at present

A case of left ventricular apical hypoplasia was confirmed by echocardiography and cardiac magnetic resonance imaging.

• This is a single case report (1 case)
• Diagnosis was established using both echocardiography (超声心动图) and cardiac MRI (心脏磁共振)
• The combination of imaging modalities was necessary for definitive diagnosis

The patient with left ventricular apical hypoplasia and their family members (who had hypertrophic cardiomyopathy) all carried MYBPC3 gene mutations.

• The patient carried a MYBPC3 gene mutation
• Family members diagnosed with hypertrophic cardiomyopathy (肥厚型心肌病) also carried the MYBPC3 gene
• This co-segregation of MYBPC3 mutation with both LVAH and hypertrophic cardiomyopathy was noted within the same family

MYBPC3 mutations may have broader phenotypic associations with myocardial developmental abnormalities beyond hypertrophic cardiomyopathy.

• Previously, LVAH was thought to possibly be associated with mutations in laminin A/C (层粘连蛋白A/C基因突变)
• The current case suggests MYBPC3 mutation may be associated with a wider range of phenotypes related to abnormal myocardial development
• The findings provide a direction for etiology exploration and genetic association research of left ventricular apical hypoplasia