Fig. 1.

a, Case in point 1 (see online supplementary cine images).

An athletic 49 year old man with no family history and normal coronary arteries was referred with atypical chest pain, an abnormal ECG (deep infero-lateral TWI, a) and a normal echocardiogram for CMR. This demonstrated: 1) a discrete increase in wall thickness at the apex (10 mm vs 8 mm basally); 2) a 14 mm tube-like apical cavity (arrowed, b, c) which obliterates in systole; 3) a small apical micro-aneurysm un-obliterated in systole (arrowed, f); 4) apical scar (arrows d, g). 5) Left atrial dilatation (e). This patient was subsequently found to have a gene mutation in myosin binding protein C3 (R810H). b, Case in point 2.

Despite the different appearances between the left and right images; all images are in diastole (SSFP cine stills). Top row 4 chamber, bottom row 2 chamber. Left: Index scan 2008 of 47 year old male referred with TWI and atypical chest pain which was related to gall stone disease. Maximum wall thickness in 2008 was 12 mm with apical cavity obliteration of 25 mm. At follow-up 6 years later, the maximum wall thickness was 18 mm with apical cavity obliteration of 41 mm. He now has a formal diagnosis of HCM.