Abstract 378 Systolic and diastolic function in cardiac Fabry disease - Investigations in the definition of the cardiac phenotype    

Z Kardiol 94: Suppl 2 (2005)
Systolic and diastolic function in cardiac Fabry disease - Investigations in the definition of the cardiac phenotype
G. Beer¹, H. Kuhn², Ch. Stellbrink²
¹, Bielefeld, BusinessLogic.Land; ²Klinik f. Kardiologie und intern. Intensivmedizin, Städt. Kliniken Bielefeld, Klinikum Mitte, Bielefeld;
In a part of pts with Fabry disease (FD) cardiac involvement can be the sole manifestation of the disease mimicking the clinical features of hypertrophic non obstructive (HNCM) or obstructive (HOCM)cardiomyopathy. Systematic clinical and echocardiographic studies in pts with unequivocal cardiac Fabry disease based on morphological evaluation of cardiac biopsy tissue are lacking. There is debate about diastolic and systolic dysfunction in the course of the disease. Methods : We investigated in a study 30 symptomatic pts with cardiac FD (23 male, 7 female pts ; age 56 years, range 19 to 77 years). In all pts cardiac biopsy revealed cardiac FD. In all pts transthoracic echocardiography (TTE) was performed and correlated to morphological and clinical data. Results : TTE revealed in all pts pronounced LVH. In 1 pt TTE revealed a dynamic left ventricular outflow tract gradient (95 mmHg) thus mimicking the clinical features of HOCM; in 25 pts FD mimicked the clinical features of HNCM (septum 18 mm, range 13 to 35 mm; posterior wall 14 mm, range 11 to 20 mm). Diastolic dysfunction was present in 9/25 pts. In 15/25 pts (64 %) left ventricular diastolic and systolic function were well preserved. In 4 male pts global systolic dysfunction was present together with pronounced LVH (23 mm) mimicking the clinical features of "burned-out HCM". Conclusion : In the majority of pts cardiac FD mimicks the clinical features of HNCM, in single pts that of HOCM. Diastolic dysfunction is present in a larger part of pts. In some pts global systolic dysfunction and LVH are present, mimicking the rare clinical picture of "burned-out HCM". One can speculate that in a subset of pts cardiac FD leads first to diastolic dysfunction and then to progressive global systolic dysfunction. The correct diagnosis of these pts with cardiac FD is mandatory because enzyme replacement therapy offers a specific therapeutic option in a subgroup of pts with HCM.
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