title: [Clinical and genetic features of left ventricular noncompaction: a continuum in cardiomyopathies].
abstract: Isolated left ventricular non-compaction (LVNC) is a rare genetic form of cardiomyopathy (CM) characterized by prominent left ventricular wall trabeculation and intertrabecular recesses communicating with the ventricular cavity. Clinical signs are variable, ranging from lack of symptoms to severe manifestations including heart failure, sustained ventricular arrhythmias, cardioembolism and sudden death. The diagnosis of LVNC is frequently missed, due to limited awareness in the medical community. Contemporary diagnostic sensitivity has been enhanced by the introduction of specific morphologic criteria by high resolution echocardiography and cardiac magnetic resonance. As a consequence, LVNC has been diagnosed more frequently in association with other disorders such as congenital heart disease or genetic CM. The clinical relevance of regional non-compaction in the context of other cardiac diseases is still uncertain. Recent evidence points to an overlapping genetic background encompassing LVNC, hypertrophic and dilated CM, suggesting a continuum of disease associated with sarcomere protein gene mutations. This concept may prove relevant to the understanding of common pathogenetic mechanisms of CM and offer novel research opportunities.
authors.affiliation: Centro di Riferimento Regionale per le Cardiomiopatie di Firenze, Dipartimento Area Critica, Università degli Studi, Azienda Ospedaliero-Universitaria Careggi, Firenze.
authors.forename: Massimo
authors.initials: M
authors.lastname: Baldi
authors.forename: Aurelio
authors.initials: A
authors.lastname: Sgalambro
authors.forename: Stefano
authors.initials: S
authors.lastname: Nistri
authors.forename: Francesca
authors.initials: F
authors.lastname: Girolami
authors.forename: Katia
authors.initials: K
authors.lastname: Baldini
authors.forename: Silvia
authors.initials: S
authors.lastname: Fantini
authors.forename: Camilla
authors.initials: C
authors.lastname: Grifoni
authors.forename: Luigi
authors.initials: L
authors.lastname: Rega
authors.forename: Iacopo
authors.initials: I
authors.lastname: Olivottol
authors.forename: Franco
authors.initials: F
authors.lastname: Cecchi
mesh_terms: D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D018570:Risk Assessment; D014463:Ultrasonography