Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C

Revista Portuguesa de Cardiologia

Volumn 33, Issue 3, 2014, Pages 183.e1-183.e5

  Caetano, Francisca ^a   Botelho, Ana ^a   Mota, Paula ^a   Silva, Joana ^a   Marques, António Leitão ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

Anderson fabry disease; Apical hypertrophic cardiomyopathy; Echocardiography; Genetics; Screening

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CLAUSTROPHOBIA; ECG ABNORMALITY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; GENE; GLA GENE; HEARING IMPAIRMENT; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE ISCHEMIA; HEART VENTRICLE ENDDIASTOLIC PRESSURE; HOLTER MONITORING; HUMAN; LEFT VENTRICULAR DIASTOLIC DYSFUNCTION; MIDDLE AGED; MISSENSE MUTATION; POINT MUTATION; QRS COMPLEX; SINUS RHYTHM; T WAVE INVERSION; TINNITUS; TREADMILL TEST; VERTIGO; COMPLICATION; GENETICS; HYPERTROPHY, LEFT VENTRICULAR;

ALPHA-GALACTOSIDASE; FABRY DISEASE; FEMALE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MIDDLE AGED; MUTATION, MISSENSE;

EID: 84901609469     PISSN: 08702551     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.repc.2013.11.005     Document Type: Article

References (18)

1. Kint JA. The enzyme defect in Fabry's disease. Nature. 1970;227: 1173.
2. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabrydisease frequently have major organ involvement: lessons fromthe Fabry Registry. Mol Genet Metab. 2008;93: 112-28.
3. Desnick R, Ionnou Y, Eng C. Fabry disease: alpha galactosidaseA deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors.The metabolic and molecular bases of inherited disease, 2741.New York, NY: McGraw Hill; 1995. p. 84.
4. Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry dis-ease: progression of nephropathy, and prevalence of cardiacand cerebrovascular events before enzyme replacement ther-Apy. Nephrol Dial Transplant. 2009;24: 2102-11.
5. Linhart A, Palecek T, Bultas J, et al. New insights in cardiacstructural changes in patients with Fabry's disease. J Am Heart.2000;139: 1101-8.
6. Takenaka T, Teraguchi H, Yoshida A, et al. Terminal stage cardiacfindings in patients with cardiac Fabry disease: an electrocar-diographic, echocardiographic, and autopsy study. J Cardiol.2008;51: 50-9.
7. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysoso-mal storage disorders. JAMA. 1999;281: 249-54.
8. Spada M, Pagliardini R, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J HumGenet. 2006;79: 31-40.
9. Azevedo O, Caetano F, Correia E, et al. A portuguese multi-centre screening of Fabry disease in patients with hypertrophiccardiomyopathy. Eur Heart J. 2012;33 Suppl. 1: 403 [abstract].
10. Monserrat L, Gimeno-Blanes JR, Marín F, et al. Prevalenceof Fabry disease in a cohort of 508 unrelated patients withhypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50: 2399-403.
11. Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabrydisease in female patients with late-onset hypertrophic car-diomyopathy. Circulation. 2004;110: 1047-53.
12. Linhart A, Elliot P. The heart in Anderson-Fabry disease andother lysosomal storage disorders. Heart. 2007;93: 528-35.
13. Fiuza M, Avó LB, Oliveria EI, et al. Detection of preclinical leftventricular dysfunction in Fabry disease: the contribution oftissue Doppler. Rev Port Cardiol. 2006;25: 613-37.
14. Hajioff D, Goodwin S, Quiney R, et al. Hearing improvement inpatients with Fabry disease treated with agalsidase alfa. ActaPaediatr Suppl. 2003;92: 28-30.
15. Morais P, Santos AL, Baudrier T, et al. Angiokeratomas of Fabrysuccessfully treated with intense pulsed light. J Cosmet LaserTher. 2008;10: 218-22.
16. Baptista MV, Ferreira S, Pinho-E-Melo T, et al., PORTugueseYoung STROKE Investigators. Mutations of the GLA gene inyoung patients with stroke: the PORTYSTROKE study -screeninggenetic conditions in Portuguese young stroke patients. Stroke.2010;41: 431-6.
17. Gaspar P, Herrera J, Rodrigues D, et al. Frequency of Fabry dis-ease in male and female haemodialysis patients in Spain. BMCMed Genet. 2010;11: 19.
18. Mehta A, Beck M, Elliott P, et al., Fabry Outcome Survey inves-Tigators. Enzyme replacement therapy with agalsidase alfa inpatients with Fabry's disease: an analysis of registry data.Lancet. 2009;374: 1986-96.