Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
Int. j. cardiovasc. sci. (Impr.)
;
35(1): 136-139, Jan.-Feb. 2022. graf
Article
in English
| LILACS
| ID: biblio-1356313
ABSTRACT
Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Lamin Type A
/
Isolated Noncompaction of the Ventricular Myocardium
Type of study:
Diagnostic study
/
Etiology study
Limits:
Adolescent
/
Humans
/
Male
Language:
English
Journal:
Int. j. cardiovasc. sci. (Impr.)
Journal subject:
Cardiology
Year:
2022
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de São Paulo/BR
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