Vasospastic Angina in a Patient With Fabry's Disease Who Showed Normal Coronary Angiographic Findings

Ogawa, Takayuki; Kawai, Mie; Matsui, Takashi; Seo, Atsushi; Aizawa, Osamu; Hongo, Kazuhiro; Shibata, Takahiro; Yoshida, Shigeo; Okamura, Tetsuo; Nishikawa, Toshio; Kasajima, Takeshi

doi:10.1253/jcj.60.315

Cited by 14 publications

(4 citation statements)

References 6 publications

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“…Besides coronary microvascular dysfunction, coronary vasospasm may also contribute to angina [ 131 , 132 ] and may precipitate dysrhythmias and sudden death [ 133 ].…”

Section: Cardiac Manifestations Of Fdmentioning

confidence: 99%

Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulation occurs in virtually all cardiac cells (cardiomyocytes, conduction system cells, fibroblasts, and endothelial and smooth muscle vascular cells), ultimately leading to ventricular hypertrophy and fibrosis, heart failure, valve disease, angina, dysrhythmias, cardiac conduction abnormalities, and sudden death. Despite available therapies and supportive treatment, cardiac involvement carries a major prognostic impact, representing the main cause of death in FD. In the last years, knowledge has substantially evolved on the pathophysiological mechanisms leading to cardiac damage, the natural history of cardiac manifestations, the late-onset phenotypes with predominant cardiac involvement, the early markers of cardiac damage, the role of multimodality cardiac imaging on the diagnosis, management and follow-up of Fabry patients, and the cardiac efficacy of available therapies. Herein, we provide a comprehensive and integrated review on the cardiac involvement of FD, at the pathophysiological, anatomopathological, laboratory, imaging, and clinical levels, as well as on the diagnosis and management of cardiac manifestations, their supportive treatment, and the cardiac efficacy of specific therapies, such as enzyme replacement therapy and migalastat.

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“…Besides coronary microvascular dysfunction, coronary vasospasm may also contribute to angina [ 131 , 132 ] and may precipitate dysrhythmias and sudden death [ 133 ].…”

Section: Cardiac Manifestations Of Fdmentioning

confidence: 99%

Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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“…Angina in Fabry disease is frequent (in recent report it was present in almost 20% of patients (Linhart et al 2007). It is thought to be mostly a result of coronary vasospasm and impaired myocardial blood flow since coronary artery stenoses are found in only a small number of patients (9.4%) (MacDermot et al 2001;Ogawa et al 1996).…”

Section: Discussionmentioning

confidence: 98%

“…The endothelial dysfunction increases the risk of spasm, which can worsen pre-existing stenosis or cause ischaemia in the absence of any plaque. The occurrence of spasm in Fabry disease patients was documented by Ogawa and co-workers, by acetylcholine administration (Ogawa et al 1996). Heltianu and co-workers demonstrated a higher occurrence of Glu298Asp polymorphism of nitric oxide synthase (NOS) in Fabry disease patients than in controls, resulting in a dramatic decrease of NOS activity (Heltianu et al 2002).…”

Section: Endothelial Dysfunctionmentioning

confidence: 95%

Intravascular ultrasound assessment of coronary artery involvement in Fabry disease

Kovárník

Mintz

Karetová

et al. 2008

J of Inher Metab Disea

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“…Storage in the arterial wall has been documented in many reports of patients with Fabry disease and has been associated with various sequelae (1). This leads to diverse alterations of the arterial vessel wall, with the main burden of storage concentrated in the muscular and endothelial layers (for example (49,50)). Clearly, the effects of storage may be influenced by additional factors, such as hypertension.…”

Section: Pathology Of the Arterial Wallmentioning

confidence: 99%

Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases

Elleder

2003

Acta Paediatrica

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Elleder M. Sequelae of storage in Fabry disease -pathology and comparison with other lysosomal storage disorders. Acta Paediatr 2003; Suppl 443: 46-53. Stockholm. ISSN 0803-5326 Aim: To evaluate the sequelae of the lysosomal storage of globotriaosylceramide (Gb 3 ) in a series of patients with Fabry disease. Methods: Biopsy and post-mortem samples from 12 patients with Fabry disease were examined microscopically, including, in some cases, immunohistochemistry and electron microscopy. Where possible, comparisons were made with other lysosomal storage disorders. Results: Storage of Gb 3 in cardiocytes leads commonly to progressive hypertrophy, which is a non-specific phenomenon also observed in other lysosomal storage disorders. Capillary endothelial storage was associated with a tendency for capillary basement membrane multiplication. In the single angiokeratoma studied, the basement membrane was rudimentary. Sinusoids in the adrenal cortex and liver displayed either a slight degree of storage or were unaffected. The glomeruli of the kidney exhibited focal hyalinization starting in the mesangial region. Proximal tubular cells were essentially free of lysosomal accumulation, including protein absorption droplets, despite the presence of proteinuria. In only one case, an autopsied Fabry heterozygote, were the proximal tubular cells loaded with protein absorption droplets. The arterial wall in large muscular arteries (coronary, renal and intrarenal) displayed arteriopathy with pronounced involvement of the smooth muscle cells in the media. Arteriopathy started with storage, followed by cell degeneration and breakdown, extracellular matrix deposition and, often, calcification (confined to the muscular layer). Smooth muscle cells occasionally exhibited shrinkage-type necrosis, with dispersion of the stored lipid into the dense cytoplasmic mass. Intimal and mitral valve fibroblasts exhibited variable storage, which was associated with cell loss and necrosis. Intensive storage was found in Leydig cells and in the epididymal epithelium.Conclusion: These long-term sequelae of Gb 3 storage are mostly irreversible. Some may interfere with enzyme replacement therapy. It is important, therefore, to consider starting enzyme replacement therapy as early as possible.

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Vasospastic Angina in a Patient With Fabry's Disease Who Showed Normal Coronary Angiographic Findings

Cited by 14 publications

References 6 publications

Fabry Disease and the Heart: A Comprehensive Review

Fabry Disease and the Heart: A Comprehensive Review

Intravascular ultrasound assessment of coronary artery involvement in Fabry disease

Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases

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