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Cardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease

Objectives Assess the impact of end-stage renal disease (chronic kidney disease stage 5 (CKD5)) on cardiovascular outcomes in patients with Fabry disease on enzyme replacement therapy. Background Fabry disease, an X-linked lysosomal storage disease, causes hypertrophic cardiomyopathy and cardiovascu... Full description

Journal Title: Heart (British Cardiac Society) 2015-02, Vol.101 (4), p.287-293
Main Author: Talbot, Andrew S
Other Authors: Lewis, Nigel T , Nicholls, Kathy M
Format: Electronic Article Electronic Article
Language: English
Subjects:
Abridged Index Medicus
Adolescent
Adult
alpha-Galactosidase - therapeutic use
Cardiomyopathy
Care and treatment
Data analysis
Diagnosis
Disease Progression
Disease-Free Survival
Echocardiography
Echocardiography, Doppler
Electrocardiography
Enzyme Replacement Therapy
Enzymes
Fabry Disease - complications
Fabry Disease - diagnosis
Fabry Disease - drug therapy
Fabry Disease - mortality
Fabry's disease
Glomerular Filtration Rate
Health aspects
Heart attacks
Humans
Hypertrophy, Left Ventricular - diagnosis
Hypertrophy, Left Ventricular - etiology
Hypertrophy, Left Ventricular - mortality
Hypertrophy, Left Ventricular - physiopathology
Hypertrophy, Left Ventricular - therapy
Kidney diseases
Kidney Failure, Chronic - diagnosis
Kidney Failure, Chronic - etiology
Kidney Failure, Chronic - mortality
Kidney Failure, Chronic - physiopathology
Kidney Failure, Chronic - therapy
Kidney Transplantation
Male
Middle Aged
Mortality
Mutation
Predictive Value of Tests
Renal Dialysis
Retrospective Studies
Severity of Illness Index
Statistical analysis
Studies
Time Factors
Treatment Outcome
Usage
Ventricular Dysfunction, Left - diagnosis
Ventricular Dysfunction, Left - etiology
Ventricular Dysfunction, Left - mortality
Ventricular Dysfunction, Left - physiopathology
Ventricular Dysfunction, Left - therapy
Ventricular Function, Left
Young Adult
Quelle: Alma/SFX Local Collection
Publisher: England: British Medical Association
ID: ISSN: 1355-6037
Link: https://www.ncbi.nlm.nih.gov/pubmed/25381325
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title: Cardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease
format: Article
creator:
  • Talbot, Andrew S
  • Lewis, Nigel T
  • Nicholls, Kathy M
subjects:
  • Abridged Index Medicus
  • Adolescent
  • Adult
  • alpha-Galactosidase - therapeutic use
  • Cardiomyopathy
  • Care and treatment
  • Data analysis
  • Diagnosis
  • Disease Progression
  • Disease-Free Survival
  • Echocardiography
  • Echocardiography, Doppler
  • Electrocardiography
  • Enzyme Replacement Therapy
  • Enzymes
  • Fabry Disease - complications
  • Fabry Disease - diagnosis
  • Fabry Disease - drug therapy
  • Fabry Disease - mortality
  • Fabry's disease
  • Glomerular Filtration Rate
  • Health aspects
  • Heart attacks
  • Humans
  • Hypertrophy, Left Ventricular - diagnosis
  • Hypertrophy, Left Ventricular - etiology
  • Hypertrophy, Left Ventricular - mortality
  • Hypertrophy, Left Ventricular - physiopathology
  • Hypertrophy, Left Ventricular - therapy
  • Kidney diseases
  • Kidney Failure, Chronic - diagnosis
  • Kidney Failure, Chronic - etiology
  • Kidney Failure, Chronic - mortality
  • Kidney Failure, Chronic - physiopathology
  • Kidney Failure, Chronic - therapy
  • Kidney Transplantation
  • Male
  • Middle Aged
  • Mortality
  • Mutation
  • Predictive Value of Tests
  • Renal Dialysis
  • Retrospective Studies
  • Severity of Illness Index
  • Statistical analysis
  • Studies
  • Time Factors
  • Treatment Outcome
  • Usage
  • Ventricular Dysfunction, Left - diagnosis
  • Ventricular Dysfunction, Left - etiology
  • Ventricular Dysfunction, Left - mortality
  • Ventricular Dysfunction, Left - physiopathology
  • Ventricular Dysfunction, Left - therapy
  • Ventricular Function, Left
  • Young Adult
ispartof: Heart (British Cardiac Society), 2015-02, Vol.101 (4), p.287-293
description: Objectives Assess the impact of end-stage renal disease (chronic kidney disease stage 5 (CKD5)) on cardiovascular outcomes in patients with Fabry disease on enzyme replacement therapy. Background Fabry disease, an X-linked lysosomal storage disease, causes hypertrophic cardiomyopathy and cardiovascular dysfunction. Methods Cardiac and renal function of 25 male patients with Fabry disease were analysed at 0, 1, 2, 5, 7 and 10 years after initiation of treatment. Patients were grouped at baseline into those with CKD5 (n=10) and those without (n=15). ECG and echocardiography were performed 6 and 12 monthly, respectively, while renal function was measured yearly. Results After 10 years of treatment, cardiac and renal function in non-CKD5 patients remained unchanged. In contrast, CKD5 was associated with worse baseline cardiac parameters and progressive LV hypertrophy. LV mass index grew by 35.4±31.8 g/m2.7 in CKD5 versus 5.7±7.9 g/m2.7, p=0.044 in non-CKD5, predominantly due to increased interventricular septal wall thickness (7.7±5.5 mm vs 1.3±1.7 mm, p=0.003). Cardiovascular events, including sudden death, arrhythmia and pacing device insertion, occurred in 100% patients with CKD5 (21 events) and 26% non-CKD5 patients (7 events), p
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 1355-6037
fulltext: fulltext
issn:
  • 1355-6037
  • 1468-201X
url: Link


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titleCardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease
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creatorTalbot, Andrew S ; Lewis, Nigel T ; Nicholls, Kathy M
creatorcontribTalbot, Andrew S ; Lewis, Nigel T ; Nicholls, Kathy M
descriptionObjectives Assess the impact of end-stage renal disease (chronic kidney disease stage 5 (CKD5)) on cardiovascular outcomes in patients with Fabry disease on enzyme replacement therapy. Background Fabry disease, an X-linked lysosomal storage disease, causes hypertrophic cardiomyopathy and cardiovascular dysfunction. Methods Cardiac and renal function of 25 male patients with Fabry disease were analysed at 0, 1, 2, 5, 7 and 10 years after initiation of treatment. Patients were grouped at baseline into those with CKD5 (n=10) and those without (n=15). ECG and echocardiography were performed 6 and 12 monthly, respectively, while renal function was measured yearly. Results After 10 years of treatment, cardiac and renal function in non-CKD5 patients remained unchanged. In contrast, CKD5 was associated with worse baseline cardiac parameters and progressive LV hypertrophy. LV mass index grew by 35.4±31.8 g/m2.7 in CKD5 versus 5.7±7.9 g/m2.7, p=0.044 in non-CKD5, predominantly due to increased interventricular septal wall thickness (7.7±5.5 mm vs 1.3±1.7 mm, p=0.003). Cardiovascular events, including sudden death, arrhythmia and pacing device insertion, occurred in 100% patients with CKD5 (21 events) and 26% non-CKD5 patients (7 events), p<0.0001. Additionally, estimated LV filling pressure (E/Ea) was significantly higher in patients having cardiovascular events (21.1±7.7 vs 12.5±4.5, p=0.008) irrespective of renal function. Conclusions End-stage renal disease was the strongest indicator of cardiovascular disease progression in Fabry disease. Enzyme replacement initiated prior to CKD5 was associated with stability in cardiac and renal disease while patients with CKD5 showed ongoing deterioration. Additionally, E/Ea ≥15 may predict risk of cardiac events.
identifier
0ISSN: 1355-6037
1EISSN: 1468-201X
2DOI: 10.1136/heartjnl-2014-306278
3PMID: 25381325
languageeng
publisherEngland: British Medical Association
subjectAbridged Index Medicus ; Adolescent ; Adult ; alpha-Galactosidase - therapeutic use ; Cardiomyopathy ; Care and treatment ; Data analysis ; Diagnosis ; Disease Progression ; Disease-Free Survival ; Echocardiography ; Echocardiography, Doppler ; Electrocardiography ; Enzyme Replacement Therapy ; Enzymes ; Fabry Disease - complications ; Fabry Disease - diagnosis ; Fabry Disease - drug therapy ; Fabry Disease - mortality ; Fabry's disease ; Glomerular Filtration Rate ; Health aspects ; Heart attacks ; Humans ; Hypertrophy, Left Ventricular - diagnosis ; Hypertrophy, Left Ventricular - etiology ; Hypertrophy, Left Ventricular - mortality ; Hypertrophy, Left Ventricular - physiopathology ; Hypertrophy, Left Ventricular - therapy ; Kidney diseases ; Kidney Failure, Chronic - diagnosis ; Kidney Failure, Chronic - etiology ; Kidney Failure, Chronic - mortality ; Kidney Failure, Chronic - physiopathology ; Kidney Failure, Chronic - therapy ; Kidney Transplantation ; Male ; Middle Aged ; Mortality ; Mutation ; Predictive Value of Tests ; Renal Dialysis ; Retrospective Studies ; Severity of Illness Index ; Statistical analysis ; Studies ; Time Factors ; Treatment Outcome ; Usage ; Ventricular Dysfunction, Left - diagnosis ; Ventricular Dysfunction, Left - etiology ; Ventricular Dysfunction, Left - mortality ; Ventricular Dysfunction, Left - physiopathology ; Ventricular Dysfunction, Left - therapy ; Ventricular Function, Left ; Young Adult
ispartofHeart (British Cardiac Society), 2015-02, Vol.101 (4), p.287-293
rights
0Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions
1Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
2Copyright: 2015 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions
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descriptionObjectives Assess the impact of end-stage renal disease (chronic kidney disease stage 5 (CKD5)) on cardiovascular outcomes in patients with Fabry disease on enzyme replacement therapy. Background Fabry disease, an X-linked lysosomal storage disease, causes hypertrophic cardiomyopathy and cardiovascular dysfunction. Methods Cardiac and renal function of 25 male patients with Fabry disease were analysed at 0, 1, 2, 5, 7 and 10 years after initiation of treatment. Patients were grouped at baseline into those with CKD5 (n=10) and those without (n=15). ECG and echocardiography were performed 6 and 12 monthly, respectively, while renal function was measured yearly. Results After 10 years of treatment, cardiac and renal function in non-CKD5 patients remained unchanged. In contrast, CKD5 was associated with worse baseline cardiac parameters and progressive LV hypertrophy. LV mass index grew by 35.4±31.8 g/m2.7 in CKD5 versus 5.7±7.9 g/m2.7, p=0.044 in non-CKD5, predominantly due to increased interventricular septal wall thickness (7.7±5.5 mm vs 1.3±1.7 mm, p=0.003). Cardiovascular events, including sudden death, arrhythmia and pacing device insertion, occurred in 100% patients with CKD5 (21 events) and 26% non-CKD5 patients (7 events), p<0.0001. Additionally, estimated LV filling pressure (E/Ea) was significantly higher in patients having cardiovascular events (21.1±7.7 vs 12.5±4.5, p=0.008) irrespective of renal function. Conclusions End-stage renal disease was the strongest indicator of cardiovascular disease progression in Fabry disease. Enzyme replacement initiated prior to CKD5 was associated with stability in cardiac and renal disease while patients with CKD5 showed ongoing deterioration. Additionally, E/Ea ≥15 may predict risk of cardiac events.
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3alpha-Galactosidase - therapeutic use
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13Enzyme Replacement Therapy
14Enzymes
15Fabry Disease - complications
16Fabry Disease - diagnosis
17Fabry Disease - drug therapy
18Fabry Disease - mortality
19Fabry's disease
20Glomerular Filtration Rate
21Health aspects
22Heart attacks
23Humans
24Hypertrophy, Left Ventricular - diagnosis
25Hypertrophy, Left Ventricular - etiology
26Hypertrophy, Left Ventricular - mortality
27Hypertrophy, Left Ventricular - physiopathology
28Hypertrophy, Left Ventricular - therapy
29Kidney diseases
30Kidney Failure, Chronic - diagnosis
31Kidney Failure, Chronic - etiology
32Kidney Failure, Chronic - mortality
33Kidney Failure, Chronic - physiopathology
34Kidney Failure, Chronic - therapy
35Kidney Transplantation
36Male
37Middle Aged
38Mortality
39Mutation
40Predictive Value of Tests
41Renal Dialysis
42Retrospective Studies
43Severity of Illness Index
44Statistical analysis
45Studies
46Time Factors
47Treatment Outcome
48Usage
49Ventricular Dysfunction, Left - diagnosis
50Ventricular Dysfunction, Left - etiology
51Ventricular Dysfunction, Left - mortality
52Ventricular Dysfunction, Left - physiopathology
53Ventricular Dysfunction, Left - therapy
54Ventricular Function, Left
55Young Adult
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titleCardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease
authorTalbot, Andrew S ; Lewis, Nigel T ; Nicholls, Kathy M
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0Abridged Index Medicus
1Adolescent
2Adult
3alpha-Galactosidase - therapeutic use
4Cardiomyopathy
5Care and treatment
6Data analysis
7Diagnosis
8Disease Progression
9Disease-Free Survival
10Echocardiography
11Echocardiography, Doppler
12Electrocardiography
13Enzyme Replacement Therapy
14Enzymes
15Fabry Disease - complications
16Fabry Disease - diagnosis
17Fabry Disease - drug therapy
18Fabry Disease - mortality
19Fabry's disease
20Glomerular Filtration Rate
21Health aspects
22Heart attacks
23Humans
24Hypertrophy, Left Ventricular - diagnosis
25Hypertrophy, Left Ventricular - etiology
26Hypertrophy, Left Ventricular - mortality
27Hypertrophy, Left Ventricular - physiopathology
28Hypertrophy, Left Ventricular - therapy
29Kidney diseases
30Kidney Failure, Chronic - diagnosis
31Kidney Failure, Chronic - etiology
32Kidney Failure, Chronic - mortality
33Kidney Failure, Chronic - physiopathology
34Kidney Failure, Chronic - therapy
35Kidney Transplantation
36Male
37Middle Aged
38Mortality
39Mutation
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41Renal Dialysis
42Retrospective Studies
43Severity of Illness Index
44Statistical analysis
45Studies
46Time Factors
47Treatment Outcome
48Usage
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50Ventricular Dysfunction, Left - etiology
51Ventricular Dysfunction, Left - mortality
52Ventricular Dysfunction, Left - physiopathology
53Ventricular Dysfunction, Left - therapy
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abstractObjectives Assess the impact of end-stage renal disease (chronic kidney disease stage 5 (CKD5)) on cardiovascular outcomes in patients with Fabry disease on enzyme replacement therapy. Background Fabry disease, an X-linked lysosomal storage disease, causes hypertrophic cardiomyopathy and cardiovascular dysfunction. Methods Cardiac and renal function of 25 male patients with Fabry disease were analysed at 0, 1, 2, 5, 7 and 10 years after initiation of treatment. Patients were grouped at baseline into those with CKD5 (n=10) and those without (n=15). ECG and echocardiography were performed 6 and 12 monthly, respectively, while renal function was measured yearly. Results After 10 years of treatment, cardiac and renal function in non-CKD5 patients remained unchanged. In contrast, CKD5 was associated with worse baseline cardiac parameters and progressive LV hypertrophy. LV mass index grew by 35.4±31.8 g/m2.7 in CKD5 versus 5.7±7.9 g/m2.7, p=0.044 in non-CKD5, predominantly due to increased interventricular septal wall thickness (7.7±5.5 mm vs 1.3±1.7 mm, p=0.003). Cardiovascular events, including sudden death, arrhythmia and pacing device insertion, occurred in 100% patients with CKD5 (21 events) and 26% non-CKD5 patients (7 events), p<0.0001. Additionally, estimated LV filling pressure (E/Ea) was significantly higher in patients having cardiovascular events (21.1±7.7 vs 12.5±4.5, p=0.008) irrespective of renal function. Conclusions End-stage renal disease was the strongest indicator of cardiovascular disease progression in Fabry disease. Enzyme replacement initiated prior to CKD5 was associated with stability in cardiac and renal disease while patients with CKD5 showed ongoing deterioration. Additionally, E/Ea ≥15 may predict risk of cardiac events.
copEngland
pubBritish Medical Association
pmid25381325
doi10.1136/heartjnl-2014-306278
orcididhttps://orcid.org/0000-0003-4803-6830