title: A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.
abstract: 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 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.
authors.affiliation: Department of Pediatrics, University of Manitoba, Winnepeg, Manitoba, Canada. Electronic address: kim.haberer@ucsf.edu.
authors.forename: Kim
authors.initials: K
authors.lastname: Haberer
authors.affiliation: Health Sciences Centre, Variety Children's Heart Centre, Department of Pediatric Cardiology, University of Manitoba, Manitoba, Canada.
authors.forename: Ilan
authors.initials: I
authors.lastname: Buffo-Sequeira
authors.affiliation: Program in Genetics and Metabolism, Departments of Biochemistry and Medical Genetics and Pediatrics and Child Health, University of Manitoba, Manitoba, Canada.
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
authors.affiliation: Clinical Biochemistry and Genetics, Diagnostic Services Manitoba, Departments of Biochemistry and Medical Genetics and Paediatrics and Child Health, University of Manitoba, Manitoba, Canada.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Spriggs
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Alberta, and Stollery Children's Hospital, Edmonton, Alberta, Canada.
authors.forename: Consolato
authors.initials: C
authors.lastname: Sergi
mesh_terms: D024741:Cardiomyopathy, Hypertrophic, Familial / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D018450:Disease Progression; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009206:Myocardium / Q000473:pathology*; D010641:Phenotype; D012770:Shock, Cardiogenic / Q000473:pathology; D016216:Ultrasonography, Prenatal