Z Kardiol 94: Suppl 2 (2005)

The right ventricle in patients with Fabry cardiomyopathy and hypertrophic non obstructive cardiomyopathy (HNCM) : echocardiography and right ventricular angiography

G. Beer1, C. Strunk-Müller2, H. Kuhn2, Ch. Stellbrink2

1, Bielefeld, BusinessLogic.Land; 2Klinik f. Kardiologie und intern. Intensivmedizin, Städt. Kliniken Bielefeld, Klinikum Mitte, Bielefeld;

HNCM is characterized by left ventricular hypertrophy in the absence of another disease capable of producing the magnitude of hypertrophy evident. Especially concealed cardiac Fabry disease (FD) has to be excluded. No data are at issue, if the phenotype regarding RV involvement differs between HNCM and FD. Methods : We investigated RV function in 10 consecutive pts with FD (9 men and 1 woman; age 55 +/- 10 years; septal wall 17 +/- 3 mm) and matched pts with HNCM by invasive methods including right ventricular angiography (coronary heart disease ruled out, normal left ventricular systolic function) and transthoracic echocardiography (TTE). In all pts RV  endomyocardial catheter biopsy (EMCB) was performed to diagnose / exclude concealed myocardial storage. Results : In all pts EMCB revealed non specific alterations (myocyte hypertrophy and interstitial fibrosis). In the 10 pts with FD, electron microscopy of EMCB revealed concealed cardiac storage of the RV. In the 10 pts with HNCM concealed storage disease was excluded by EMCB. Global RV function was reported to be normal in the majority of FD pts (RV function normal in 9 of 10 pts by TTE and in 8 pts 10 pts by angiography). However, RV angiography revealed in 3 of 10 pts (30 %) abnormal RV hypertrabecularization and in 1 pt pronounced apical RV hypertrophy. RV involvement in FD was present in 100 % of pts by EMCB. In 50 % of FD pts RV involvement was diagnosed by TTE and/or angiography in contrast to pts with HNCM. Conclusion : Clinical apparent RV involvement in pts with cardiac FD seems to be frequent in pts with pronounced left ventricular hypertrophy in contrast to pts with HNCM. Further studies using TDI and magnetic resonance imaging are mandatory to elucidate if the cardiac phenotype (especially regarding RV involvement) differs between FD and HNCM. This is of importance because enzyme replacement therapy of FD offers a causal therapeutic option in a subgroup of pts with clinical features of HNCM.

http://www.abstractserver.de/dgk2005/ht/abstracts/P483.htm