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.
Keywords: amyloid heart disease; hypertrophic cardiomyopathy; left ventricular noncompaction; phenotypic variability.
© 2014, Wiley Periodicals, Inc.