Abstract
INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy.
METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups.
RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified.
CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.
| Original language | English |
|---|---|
| Pages (from-to) | 457-466 |
| Number of pages | 10 |
| Journal | Revista Portuguesa de Cardiologia |
| Volume | 37 |
| Issue number | 6 |
| Early online date | 22 May 2018 |
| DOIs | |
| Publication status | Published - Jun 2018 |
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Keywords
- Doença de Fabry
- Fabry disease
- Hipertrofia ventricular esquerda
- Hypertrophic cardiomyopathy
- Left ventricular hypertrophy
- Miocardiopatia hipertrófica
- Registo
- Registry
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Awareness of Fabry disease in cardiology : A gap to be filled. / Brito, Dulce; Cardim, Nuno; Lopes, Luís Rocha; Belo, Adriana; Mimoso, Jorge; Gonçalves, Lino; Madeira, Hugo.
In: Revista Portuguesa de Cardiologia, Vol. 37, No. 6, 06.2018, p. 457-466.Research output: Contribution to journal › Article
TY - JOUR
T1 - Awareness of Fabry disease in cardiology
T2 - A gap to be filled
AU - Brito, Dulce
AU - Cardim, Nuno
AU - Lopes, Luís Rocha
AU - Belo, Adriana
AU - Mimoso, Jorge
AU - Gonçalves, Lino
AU - Madeira, Hugo
N1 - Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.
PY - 2018/6
Y1 - 2018/6
N2 - INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy.METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups.RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified.CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.
AB - INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy.METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups.RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified.CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.
KW - Doença de Fabry
KW - Fabry disease
KW - Hipertrofia ventricular esquerda
KW - Hypertrophic cardiomyopathy
KW - Left ventricular hypertrophy
KW - Miocardiopatia hipertrófica
KW - Registo
KW - Registry
U2 - 10.1016/j.repc.2018.03.010
DO - 10.1016/j.repc.2018.03.010
M3 - Article
VL - 37
SP - 457
EP - 466
JO - Revista Portuguesa de Cardiologia
JF - Revista Portuguesa de Cardiologia
SN - 0870-2551
IS - 6
ER -