Myocardial infarction in Fabry disease – misfortune or companion? Case report and review of the literature (RCD code: III‑3B.2)

Jakub Chmiel, Maciej Skubera, Jacek Bednarek, Klaudia Knap, Marta Swarowska- Skuza, Stanisława Bazan- Socha, Adam Mazurek, Lidia Tomkiewicz‑Pająk, Maria Olszowska, Piotr Podolec, Piotr Musiałek

Full Text:



We discuss a 56‑year‑old man with Fabry disease (FD), a genetic X‑linked glycolipid storage disorder. The patient presented at the Emergency Room in a local hospital due to tachycardia‑associated chest pain, which had occurred occasionally in the past, but on that occasion was long‑lasting (>12h) and distressing. The patient had been diagnosed with FD at the age of 42. He presented a range of symptoms characteristic for the condition, including hypertrophic cardiac myopathy with impaired left ventricular relaxation, angiokeratomas, cornea verticillata, hypohydrosis and acroparesthesia. Residual alpha‑galactosidase A activity at diagnosis was ≈3%. The Enzyme Replacement Therapy (ERT) with the agalsidase alpha was induced. A year later pacemaker implantation was performed due to sick sinus syndrome with symptomatic, severe episodes of bradycardia. The initial diagnosis was tachycardia‑associated chest pain with troponin release in the context of FD left ventricular hypertrophy. However, a decision was made to perform an urgent angiographic evaluation to exclude coronary pathology as a potential factor in the clinical picture. Coronary angiography showed a critical, flow-limiting, stenosis of the left anterior descending artery (LAD) which changed the initial type 2 myocardial infarction (MI) diagnosis to the type 1 MI. Percutaneous stent‑assisted treatment was performed with an optimal angiographic and clinical outcome. However, 5 days later the patient developed a minor left hemispheric ischaemic stroke. In conclusion, the clinical course of a rare pathology such as FD may be importantly complicated by other (more common) pathologies. Physicians, in their diagnostic and therapeutic decision‑making, need to be open to thinking beyond the patient label. JRCD 2018; 3 (7): 246–252


rare disease; echocardiography; enzyme replacement therapy; percutaneous transluminal coronary angioplasty; echocardiography; ischemic stroke


Seydelmann N, Wanner C, Stork S, et al. Fabry disease and the heart. Best Pr. Res Clin Endocrinol Metab 2015; 29: 195–204.

Mehta A, Hughes DA. Fabry Disease. GeneReviews® [Internet] 1993–2018. Available from:

Acharya D, Doppalapudi H, Tallaj JA. Arrhythmias in Fabry Cardiomyopathy. Cardiac Electrophysiology Clinics 2015; 7: 283–291.

Shah JS, Hughes DA, Tayebjee MH, et al. Extracellular matrix turnover and disease severity in Anderson‑Fabry disease. J Inherit Metab Dis. 2007; 30: 88–95.

Monserrat L, Gimeno‑Blanes JR, Marín F, et al. Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy. J Am Coll Cardiol 2007; 50: 2399–2403.

Moon JC, Reed E, Sheppard MN, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson‑Fabry disease: Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003; 23: 2151–2155.

Smid BE, Rombach SM, Aerts JM, et al. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis 2011; 6: 69.

Tsuboi K, Yamamoto H. Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal). Genet Med 2012; 14: 779–786.

Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha‑galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 2001; 345: 9–16.

Schiffmann R, Hauer P, Freeman B, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743–2749.

Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson‑Fabry disease: a randomised, double‑blind, placebo‑controlled clinical trial of agalsidase alfa. Heart 2008; 94: 153–158.

Beck M, Hughes D, Kampmann C, et al. Long‑term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis. Mol Genet Metab Reports 2015; 3: 21–27.

Waldek S, Patel MR, Banikazem M, et al. Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry. Genet. Med. 2009; 11: 790–796.

Weidemann F, Strotmann JM, Niemann M, et al. Heart valve involvement in Fabry cardiomyopathy. Ultrasound Med Biol. 2009; 35: 730–735.

Weidemann F, Niemann M, Breunig F, et al. Long‑term effects of enzyme replacement therapy on fabry cardiomyopathy. Evidence for a better outcome with early treatment. Circulation 2009; 119: 524–529.

Becker AE, Schoorl R, Balk AG, et al. Cardiac manifestations of Fabry’s disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol. 1975; 36: 829–835.

Mehta A, Beck M, Sunder‑Plassmann G. Fabry Disease: Perspectives from 5 Years of FOS. Oxford PharmaGenesis 2006: 20.

Kovarnik T, Mintz GS, Karetova D, et al. Intravascular ultrasound assessment of coronary artery involvement in Fabry disease J Inherit Metab Dis 2008; 31: 753–760.

Shen JS, Meng XL, Moore D, et al. Globotriaosylceramide induces oxidative stress and up‑regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 2008; 95: 163–168.

De Francesco PN, Mucci JM, Ceci R, et al. Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. Mol Genet Metab 2013; 109: 93–99.

Rombach SM, Twickler TB, Aerts JM, et al. Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab 2010; 99: 99–108.

Schiffmann R, Rapkiewicz A, Abu‑Asab M, et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch 2006; 448: 337–343.

Kolodny E, Fellgiebel A, Hilz MJ, et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 2015; 46: 302–313.

Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson‑Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 2008; 79: 1249–1254.

Sims K, Politei J, Banikazemi M, et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40: 788–794.

Lombardo A, Biasucci LM, Lanza GA, et al. Inflammation as a possible link between coronary and carotid plaque instability. Circulation 2004; 109: 3158–3163.

Werner N, Bauer T, Hochadel M, et al. Incidence and clinical impact of stroke complicating percutaneous coronary intervention: Results of the euro heart survey percutaneous coronary interventions registry Circ. Cardiovasc. Interv. 2013; 6: 362–369.

El‑Abassi R, Singhal D, England JD. Fabry’s disease. J Neurol Sci. 2014; 344: 5–194.



  • There are currently no refbacks.
Journal of Rare Cardiovascular Diseases (JRCD)
John Paul II Hospital in Kraków, 80 Prądnicka Str., 31-202 Kraków, Poland
Phone: +48 (12) 614 33 99, +48 (12) 614 34 88 Fax: +48 (12) 614 34 88
Published by SoftQ sp. z o.o.
ul. Oleandry 2, 30-063 Kraków, Poland
Phone: +48 (12) 444 1650 Fax: +48 (12) 444 1659