Case:

This case shows the findings of an advanced apical HCM phenotype in a 50-60 year old man. The diagnosis was made 6 years ago when he presented with atrial fibrillation. His prior medical history was unremarkable and his family history revealed a sudden cardiac death of this father below the age of 50 years. The ECG was abnormal with pronounced LVH with deep negative T-wave in all leads. Genetic testing is pending.

Conventional ultrasound:

The images below show a severe apical hypertrophy and also thickening of the interventricular septum. The maximal septal thickness was 18mm and the apical wall thickness was >20mm. The basal segments posterolateral are normal. The LVEF was 60%. There is no SAM nor any outflowtract obstruction.

The diastolic function was abnormal with an E/A ratio of 4.0, a clear L-wave after the E-wave (see arrow). The E/E`was 26.

Deformation imaging:

In this particular case, the wall thickness shows a clear correlation to the strain values. The most abnormal strain values are seen in the thickest wall segments. In the bulls-eye presentation of the strain analysis, the apical segments have no strain (or are positive) and the anteroseptal segments show a clear reduction in strain accompanied with post systolic shortening (see PSI image)

In the APLAX strain analysis, we see a typical finding in HCM patients (not seen in all). There is an early peak systolic strain (which is reduced) followed by a plateau phase and finally some post systolic shortening (best seen in the green graph). This has also been dubbed as the “double peak sign”.

CMR:

CMR confirmed the echocardiographic findings. The septal thickness was 20mm and the maximal wall thickness in the apex was approximately 24mm. LV mass 225 gr (114 gr./m²).

The LVEF was 58%. There is diffuse patchy delayed enhancement in the apex and in the anteroseptal wall, corresponding to the segments with the most abnormal strain values.