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CLINICAL RESEARCH: CARDIAC IMAGING

Fabry’s Disease Cardiomyopathy

Echocardiographic Detection of Endomyocardial Glycosphingolipid Compartmentalization

Maurizio Pieroni, MD, PhD^_*, Cristina Chimenti, MD, PhD^,, Francesco De Cobelli, MD, Emanuela Morgante, MD^||, Alessandro Del Maschio, MD, Carlo Gaudio, MD, Matteo Antonio Russo, MD^||,¶ and Andrea Frustaci, MD^,,_*

^_* Ospedale Multimedica, Milan, Italy
Heart and Great Vessels Department "Attilio Reale," "La Sapienza" University, Rome, Italy
National Institute for Infectious Diseases "Lazzaro Spallanzani," Rome, Italy
Radiology Department, San Raffaele Hospital, Milan, Italy
^|| Pathology Department, "La Sapienza" University, Rome, Italy
^¶ "San Raffaele Pisana" Institute, Rome, Italy

Manuscript received October 4, 2005; revised manuscript received November 1, 2005, accepted November 22, 2005.

^_* Reprint requests and correspondence: Dr. Andrea Frustaci, The Heart and Great Vessels Department "Attilio Reale," La Sapienza University, viale del Policlinico 155, 00100 Rome, Italy. (Email: biocard{at}rm.unicatt.it).

OBJECTIVES: We sought to identify echocardiographic hallmarks of Fabry’s disease cardiomyopathy (FC).

BACKGROUND: The recognition of FC from other forms of left ventricular hypertrophy (LVH) by noninvasive imaging techniques is not yet available, and diagnosis, mostly in the absence of systemic manifestations, still relies on genetic and invasive studies.

METHODS: Forty consecutive patients (mean age 39 ± 15 years, 22 men and 18 women) with an established diagnosis of Fabry’s disease were submitted to echocardiographic evaluation. Control population consisted of 40 consecutive patients with hypertrophic cardiomyopathy (HCM), 40 hypertensive patients with echocardiographic evidence of LVH, and 40 age- and gender-matched healthy subjects with no LVH. All HCM patients and FC with LVH and/or cardiac symptoms underwent cardiac catheterization with left ventricular endomyocardial biopsy.

RESULTS: Echocardiography showed in 83% of FC patients (95% of FC patients with LVH) a binary appearance of endocardial border absent in all HCM, hypertensive, and healthy subjects. The sensitivity and specificity of this echocardiographic feature in detecting Fabry patients in study population were 94% and 100%, respectively. Comparison of echocardiographic with histologic and ultrastructural findings showed the binary appearance to reflect an endomyocardial glycosphingolipids compartmentalization, consisting of thickened glycolipid-rich endocardium, free glycosphingolipid subendocardial storage, and an inner severely affected myocardial layer with a clear subendocardial-midwall layer gradient of disease severity.

CONCLUSIONS: Echocardiographic binary appearance of left ventricular endocardial border, reflecting endomyocardial glycosphingolipids compartmentalization, represents a sensitive and specific diagnostic hallmark of Fabry’s disease cardiomyopathy.

Abbreviations and Acronyms   CMR = cardiac magnetic resonance   FC = Fabry’s disease cardiomyopathy   HCM = hypertrophic cardiomyopathy   LV = left ventricle/ventricular   LVH = left ventricular hypertrophy

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