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.
Aurora Cardiovascular Services, Aurora Sinai, Aurora St. Luke's Medical Centers, School of Medicine and Public Health, University of Wisconsin, Milwaukee, Wisconsin.
Timothy E
TE
Paterick
Alix J
AJ
Tercius
Anushree
A
Agarwal
Shannon C
SC
Treiber
Bijoy K
BK
Khandheria
A Jamil
AJ
Tajik
D000328:Adult; D000686:Amyloidosis / Q000150:complications* / Q000000981:diagnostic imaging*; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D004452:Echocardiography / Q000379:methods*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications* / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D008875:Middle Aged
amyloid heart disease; hypertrophic cardiomyopathy; left ventricular noncompaction; phenotypic variability