Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology

BMC Cardiovascular Disorders

Bruno Bembi¹  Andrea Dardis¹  Gianluca Piccoli²  Gaetano Nucifora³  Annalisa Sechi¹ 

[1] Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy;Department of Diagnostic Imaging, University Hospital Santa Maria della Misericordia, Udine, Italy;Cardiothoracic Department, University Hospital Santa Maria della Misericordia, Udine, Italy

关键词: Late gadolinium enhancement;    Myocardial fibrosis;    Cardiovascular magnetic resonance;    Fabry disease;   

Others  :  1088486
DOI  :  10.1186/1471-2261-14-86

 received in 2014-03-19, accepted in 2014-06-23,  发布年份 2014

【 摘 要 】

Background

Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional tool. A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies, as in female myocardial fibrosis was found without left ventricular (LV) hypertrophy, while myocardial fibrosis was always detected in association to LV hypertrophy in men.

Case presentation

A male Caucasian patient, 19 years old, diagnosed through a family-based molecular screening, presented with LGE of the LV inferolateral wall evidenced at the CMR, without LV hypertrophy, or other clinical signs of the disease.

Conclusion

This is the first report of cardiac fibrosis as the first sign of organ involvement in a male patient with Fabry disease. This finding stresses the importance of performing CMR with LGE imaging for the initial staging and monitoring of Fabry patients of both genders.

【 授权许可】

   
2014 Sechi et al.; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1]Desnick R, Ioannou Y, Eng C: Alpha-Galactosidase A deficiency: Fabry disease. In The Metabolic and Molecular Bases of Inherited Disease. 8th edition. Edited by Scriver CR BA, Sly WS, Valle D. New York: McGraw-Hill; 2001:3733-3774.
• [2]Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M, European FOS Investigators: Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006, 43:347-352.
• [3]Martins AM, D'Almeida V, Kyosen SO, Takata ET, Delgado AG, Gonçalves AM, Benetti Filho CC, Martini Filho D, Biagini G, Pimentel H, Abensur H, Guimarães HC, Gomes JG, Sobral Neto J, D'Almeida LO, Carvalho LR, Harouche MB, Maldonado MC, Nascimento OJ, Montoril PS, Bastos RV: Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J Pediatr 2009, 155(4 Suppl):S19-S31.
• [4]Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C: Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 2006, 69:1216-1221.
• [5]Engelen MA, Brand E, Baumeister TB, Marquardt T, Duning T, Osada N, Schaefer RM, Stypmann J: Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) data. BMJ Open 2012, 21:2(6).
• [6]Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G, FOS Investigators: Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet 2009, 46:548-552.
• [7]Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ, Leed PJ, Elliott PM: Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003, 24:2151-2155.
• [8]Weidemann F, Breunig F, Beer M, Sandstede J, Störk S, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM: The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 2005, 26:1221-1227.
• [9]Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M, Machann W, Voelker W, Ertl G, Wanner C, Weidemann F: Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging 2011, 4:592-601.
• [10]Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR: Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003, 138:338-346.
• [11]Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006, 8:539-548.
• [12]Gange CA, Link MS, Maron MS: Utility of cardiovascular magnetic resonance in the diagnosis of Anderson-Fabry disease. Circulation 2009, 120:e96-e97.
• [13]Nucifora G, Miani D, Di Chiara A, Piccoli G, Artico J, Puppato M, Slavich G, De Biasio M, Gasparini D, Proclemer A: Infarct-like acute myocarditis: relation between electrocardiographic findings and myocardial damage as assessed by cardiac magnetic resonance imaging. Clin Cardiol 2013, 36:146-152.
• [14]Thompson RB, Chow K, Khan A, Chan A, Shanks M, Paterson I, Oudit GY: T1 mapping with cardiovascular MRI is highly sensitive for fabry disease independent of hypertrophy and sex. Circ Cardiovasc Imaging 2013, 6:637-645.
• [15]Sengupta PP, Korinek J, Belohlavek M, Narula J, Vannan MA, Jahangir A, Khandheria BK: Left ventricular structure and function: basic science for cardiac imaging. J Am Coll Cardiol 2006, 48:1988-2001.
• [16]Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Störk S, Voelker W, Ertl G, Wanner C, Strotmann J: Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009, 119:524-529.
• [17]Beer M, Weidemann F, Breunig F, Knoll A, Koeppe S, Machann W, Hahn D, Wanner C, Strotmann J, Sandstede J: Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol 2006, 97:1515-1518.