A Case of an Infant With Compound Heterozygous Mutations for Hypertrophic Cardiomyopathy Producing a Phenotype of Left Ventricular Noncompaction

作者：Haberer Kim^*; Buffo Sequeira Ilan; Chudley Albert E; Spriggs Elizabeth; Sergi Consolato

来源：Canadian Journal of Cardiology, 2014, 30(10): 1249.e1.

DOI：10.1016/j.cjca.2014.05.021

A male infant was born to a 38-year-old G1PO mother with hypertrophic cardiomyopathy (HCM). Fetal echocardiography was suspicious for HCM; however, postnatal echocardiography demonstrated features consistent with left ventricular noncompaction (LVNC). The infant was initially stable but presented at 2 months of age in cardiogenic shock. On genetic analysis, both parents were heterozygous for mutations associated with HCM. The proband was a compound heterozygote. This case, in which 2 mutations for HCM produced a phenotype of LVNC, has not been demonstrated in humans and raises the question of whether HCM and LVNC represent a continuum of pathologic processes.

• 出版日期2014-10