1.
Int. j. cardiovasc. sci. (Impr.)
; 35(1): 136-139, Jan.-Feb. 2022. graf
مقالة
ي الانجليزية
| LILACS
| ID: biblio-1356313
الملخص
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.