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Article

A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.

The Canadian journal of cardiology - 1 Oct 2014

Haberer Kim, Buffo-Sequeira Ilan, Chudley Albert E, Spriggs Elizabeth, Sergi Consolato

Abstract excerpt

A male infant was born to a 38-year-old G1P0 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...

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Share to Cardiomyopathy, Hypertrophic, Familial
Share to Disease Progression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heart Ventricles

Share to Heterozygote

Share to Infant, Newborn

Share to Myocardium

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 25262865
DOI: 10.1016/j.cjca.2014.05.021

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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