title: Severe foetal hypertrophic cardiomyopathy evolving to left ventricular non-compaction.
abstract: A 29-week-old male foetus was diagnosed by foetal echocardiography with severe hypertrophic cardiomyopathy with systolic dysfunction and generalized oedema, undergoing a Caesarean section at 33 weeks. Mechanical ventilation and milrinone infusion were required during the first week. Systolic function and output parameters improved progressively. Metabolic and infectious screenings were negative. At the follow-up, during the first year of life, hypertrophy regressed, posterior right auricular hypertrophy evolved to a mass with cysts, and left ventricular myocardium developed trabeculations accomplishing non-compaction criteria. Recently, mutations in genes previously implicated in the pathogenesis of hypertrophic cardiomyopathy have been identified in patients with left ventricular non-compaction without hypertrophy. This report suggests that these cardiomyopathies may have a similar genetic origin, and can co-exist in the same patient.
authors.affiliation: Pediatric Cardiology, Valle de Hebrón Hospital, Paseo de Valle de Hebrón 119-129, CP 08035 Barcelona, Spain. pedrobetrian@yahoo.es
authors.forename: Pedro
authors.initials: P
authors.lastname: Betrián Blasco
authors.forename: Dimpna Calila
authors.initials: DC
authors.lastname: Albert Brotóns
authors.forename: Queralt Ferrer
authors.initials: QF
authors.lastname: Menduña
authors.forename: Ferrán Rosés
authors.initials: FR
authors.lastname: Noguer
authors.forename: Gemma Giralt
authors.initials: GG
authors.lastname: García
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging* / Q000503:physiopathology; D002585:Cesarean Section; D018450:Disease Progression; D004452:Echocardiography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000000981:diagnostic imaging* / Q000503:physiopathology; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal