Left ventricular noncompaction 1

Preferred Label : Left ventricular noncompaction 1;

Symbol : LVNC1;

CISMeF acronym : LVNC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Left ventricular noncompaction 1 with or without congenital heart defects;

Description : Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC. - Genetic Heterogeneity of Left Ventricular Noncompaction A locus for autosomal dominant left ventricular noncompaction has been identified on chromosome 11p15 (LVNC2; 609470).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-dystrobrevin gene (DTNA, 601239.0001);

Prefixed ID : #604169;

Details

Origin ID

604169;

UMLS CUI

C1858725;

Broader ORDO disease(s)
- Left ventricular noncompaction [ORDO Disease]
Currated CISMeF NLP mapping
- noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 1 [MeSH concept]
- noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 1 [MeSH Supplementary Concept]
DO Cross reference
- left ventricular noncompaction [DO Concept]
Genes related to phenotype
- Dystrobrevin, alpha [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Hypoplastic left heart [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular noncompaction [HPO term]
- Left ventricular noncompaction cardiomyopathy [HPO term]
- Mitral regurgitation [HPO term]
- Patent ductus arteriosus [HPO term]
- Sudden cardiac death [HPO term]
- Ventricular arrhythmia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Left ventricular noncompaction [ORDO Disease]
See also inter- (CISMeF)
- noncompaction of left ventricular myocardium with congenital heart defects [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 1 [MeSH Supplementary Concept]
- noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 1 [MeSH concept]
Validated automatic mappings to NTBT
- Left ventricular noncompaction [ORDO Disease]

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