In Dec 11, 2017, Liuyu Yu and others published an article in << European Heart Journal >> which title is “A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy”. A 17-year-old female suffering from syncope was referred with suspected apical hypertrophic cardiomyopathy (HCM) by electrocardiogram (Panel A) and echocardiogram. No skeletal muscle or mental abnormalities were found. No family history was elicited. Cardiac magnetic resonance (CMR) imaging demonstrated apical left ventricular (LV) hypertrophy with apical to basal myocardial wall thickness ratio of >1.3 and a ‘spade-like’ systolic LV cavity (Panel B; Supplementary material online, VideosS1andS2). They also found sub-endocardial perfusion defect (see Supplementary material online, VideosS3andS4) and patchy circumferential non-ischaemic appearing sub-endocardial late gadolinium enhancement (LGE) (Panel C) in the mid-to-apical LV without myocardial oedema (Panel D). In this case, CMR showed apical hypertrophy with sub-endocardial patchy LGE, which was an atypical finding in apical HCM without an apical aneurysm. Atypical LGE on CMR with LV hypertrophy should trigger the consideration of the diagnosis of Danon disease and referral to genetic testing for confirmation.
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