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Echocardiography. 2014 Sep;31(8):931-5. doi: 10.1111/echo.12502. Epub 2014 Jan 21.

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

Author information

1
Aurora Cardiovascular Services, Aurora Sinai, Aurora St. Luke's Medical Centers, School of Medicine and Public Health, University of Wisconsin, Milwaukee, Wisconsin.

Abstract

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

PMID:
24447051
DOI:
10.1111/echo.12502
[Indexed for MEDLINE]
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