Double Jeopardy in the Echocardiography Laboratory: Coexistence of Two Distinct Cardiomyopathies?

作者：Paterick Timothy E^*; Tercius Alix J; Agarwal Anushree; Treiber Shannon C; Khandheria Bijoy K; Tajik A Jamil

来源：Echocardiography-A Journal of Cardiovascular Ultrasound and Allied Techniques, 2014, 31(8): 931-935.

DOI：10.1111/echo.12502

• hypertrophic cardiomyopathy
• amyloid heart disease
• left ventricular noncompaction
• phenotypic variability

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.

• 出版日期2014-9