Double jeopardy in the echocardiography laboratory: coexistence of two distinct cardiomyopathies?

BACKGROUND

In our Hypertrophic Cardiomyopathy (HCM) Center, we identified 6 patients each with what appeared to be the occurrence of 2 rare diseases that prompted investigation for a common derivative.

METHODS

We reviewed our database, searching for all patients with a diagnosis of HCM, amyloid heart disease and left ventricular noncompaction (LVNC).

RESULTS

Using transthoracic echocardiography and magnetic resonance imaging, we identified 6 patients with apical hypertrabeculations and myocardium suggestive of LVNC; 4 of the patients had HCM and 2 of the patients had cardiac amyloidosis.

CONCLUSIONS

The significance of these possible concomitant cardiomyopathies is not presently well understood. We did not identify a common derivative when looking for a genetic link, but it is most likely hidden in the genetic substrate, yet to be identified.