Differences in Fabry Cardiomyopathy Between Female and Male Patients

Niemann, Markus; Herrmann, Sebastian; Hu, Kai; Breunig, Frank; Strotmann, Jörg; Beer, Meinrad; Machann, Wolfram; Voelker, Wolfram; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

doi:10.1016/j.jcmg.2011.01.020

Cited by 160 publications

(127 citation statements)

References 31 publications

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“…Although FD is an X-linked disease, female carriers also show significant heart disease with a different type of remodeling compared with males. 2,27,51 Indeed, genetic testing is currently recommended as essential for the diagnosis of FD in women, 51 and our findings imply that a CMR with T 1 mapping is likely to add further diagnostic potential while also providing useful information on cardiac structure and function.…”

Section: Discussionmentioning

confidence: 73%

“…[10][11][12]26 Importantly, CMR has the ability to differentiate and diagnose different types of cardiomyopathies, thereby influencing clinical decision making and therapeutic applications. FD is characterized by typically preserved LVEF, variable and sex dependence of LVH, 27 and moderate prevalence of LGE. 28,29 Longitudinal strain has been shown to be reduced in FD, even with preserved LVEF, 29 but a similar relationship is also observed in other types of hypertrophic cardiomyopathy.…”

Section: Discussionmentioning

confidence: 99%

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T ₁ Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

Thompson

Chow

Khan

et al. 2013

Circ: Cardiovascular Imaging

162

124

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 99%

T ₁ Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

Thompson

Chow

Khan

et al. 2013

Circ: Cardiovascular Imaging

162

124

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“…2 One explanation for the observed results would be that this will lower T1 and not be offset by potential prolongation from fibrosis because this appears absent in the septum of most patients with AFD with LVH, [22][23][24] unlike some other forms of LVH. 25 Histologically, the vacuolation (by light microscopy) and extent of lamellar bodies (by electron microscopy) can be substantial, yet extraction experiments obtain only a few percent by weight of the glycosphingolipid.…”

Section: Discussionmentioning

confidence: 95%

“…Recent work has suggested an additive role for CMR with LGE, with 1 study finding that 17% of women with AFD had LGE despite no evidence of LVH. 24 Some authorities suspect that patients with established fibrotic cardiac disease may not respond as well to therapy. In the present study, the T1 of patients without LVH (85% women, 22% had LGE) was significantly lower than in healthy volunteers, with 40% being >2 SD below the normal mean.…”

Section: Discussionmentioning

confidence: 99%

Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

Sado

White

Piechnik

et al. 2013

Circ: Cardiovascular Imaging

427

314

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Background— Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the magnetic resonance imaging parameter T1. We hypothesized that noncontrast T1 mapping by cardiovascular magnetic resonance would provide a novel and useful measure in this disease with potential to detect early cardiac involvement and distinguish AFD LVH from other causes. Methods and Results— Two hundred twenty-seven subjects were studied: patients with AFD (n=44; 55% with LVH), healthy volunteers (n=67; 0% with LVH), patients with hypertension (n=41; 24% with LVH), patients with hypertrophic cardiomyopathy (n=34; 100% with LVH), those with severe aortic stenosis (n=21; 81% with LVH), and patients with definite amyloid light-chain (AL) cardiac amyloidosis (n=20; 100% with LVH). T1 mapping was performed using the shortened modified Look-Locker inversion sequence on a 1.5-T magnet before gadolinium administration with primary results derived from the basal and midseptum. Compared with health volunteers, septal T1 was lower in AFD and higher in other diseases (AFD versus healthy volunteers versus other patients, 882±47, 968±32, 1018±74 milliseconds; P <0.0001). In patients with LVH (n=105), T1 discriminated completely between AFD and other diseases with no overlap. In AFD, T1 correlated inversely with wall thickness ( r =−0.51; P =0.0004) and was abnormal in 40% of subjects who did not have LVH. Segmentally, AFD showed pseudonormalization or elevation of T1 in the left ventricular inferolateral wall, correlating with the presence or absence of late gadolinium enhancement (1001±82 versus 891±38 milliseconds; P <0.0001). Conclusions— Noncontrast T1 mapping shows potential as a unique and powerful measurement in the imaging assessment of LVH and AFD.

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“…It provides information about disease progression and response to ERT, as patients with severe late enhancement do not respond to ERT [28,29]. The approach for using cMRI for diagnosis and follow-up is different in men and women due to gender differences in the patterns of cardiomyopathy seen [30]. A clinically important difference (progression or regression) can be detected by cMRI in as little as one year and therefore cMRI is helpful, but not essential.…”

Section: Follow-upmentioning

confidence: 99%

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

Concolino¹,

Degennaro²,

Parini³

et al. 2014

European Journal of Internal Medicine

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Background: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management. Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responses without consensus were discussed with an enlarged panel and modified to reach consensus. Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to show Gb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT. Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.

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Differences in Fabry Cardiomyopathy Between Female and Male Patients

Cited by 160 publications

References 31 publications

T ₁ Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

T ₁ Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

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Differences in Fabry Cardiomyopathy Between Female and Male Patients

Cited by 160 publications

References 31 publications

T 1 Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

T 1 Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

Contact Info

Product

Resources

About

T ₁ Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex

T ₁ Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex