血管医学および外科ジャーナル

概要

Myocardial Crypts in a Duchenne Carrier; A Case Report

Sumaya Al Helali

Myocardial Crypts have been reported in patients who are carriers of genetically-determined hypertrophic cardiomyopathy (HCM) and to less extent in patients with other cardiovascular patients. Duchenne muscular dystrophy (DMD) is an X-linked inherited myogenic disorder with frequent cardiac involvement, including left ventricular (LV) impairment, myocardial fibrosis, LV dilation, and eventually heart failure. Case presentation: A 32-year-old female patient with a strong family history of DMD was presented at our center for cardiac assessment. The patient had a baby boy diagnosed with DMD at his second year and had a recent abortion of a fetus with a confirmed mutation of dystrophin gene in hemizygous state (deletion of exon 44). The patient had the sons of two of her sisters diagnosed with DMD and the both sister diagnosed with severe dilated cardiomyopathy (DCM) required implantable cardioverter defibrillator . Additionally, she had three male sibling died at early childhood with DMD .