Later Onset Fabry Disease, Cardiac Damage Progress in Silence

Hsu, Ting-Rong; Hung, Sheng-Che; Chang, Fu; Yu, Wen‐Chung; Sung, Shih‐Hsien; Hsu, Chia-Lin; Dzhagalov, Ivan; Yang, Chia‐Feng; Chu, Tzu-Hung; Lee, Han-Jui; Lu, Yung-Hsiu; Chang, Shun‐Hsyung; Liao, Hsuan-Chieh; Lin, Hsiang‐Yu; Liao, Tsan-Chieh; Lee, Pi-Chang; Li, Hsing-Yuan; Yang, An-Hang; Ho, Hui-Chen; Chiang, Chuan-Chi; Lin, Ching‐Yuang; Desnick, Robert J.; Niu, Dau‐Ming

doi:10.1016/j.jacc.2016.09.943

Cited by 85 publications

(53 citation statements)

References 35 publications

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“…The cardiac phenotype in FD has been increasingly understood by cardiovascular magnetic resonance (CMR) over the past 15 years. Early data showed the presence of late gadolinium enhancement (LGE) in approximately 50% of patients, initially in the basal inferolateral wall in FD (11), sometimes occurring before LVH in females (12) or in some mutations in males (13). Recent advances in CMR allow quantitative assessment of the myocardium using fundamental magnetic tissue relaxation constants, for example T1, which are displayed as parametric color maps.…”

Section: Introductionmentioning

confidence: 99%

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

Nordin

Kozor

Menacho

et al. 2019

JACC: Cardiovascular Imaging

119

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Section: Introductionmentioning

confidence: 99%

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

Nordin

Kozor

Menacho

et al. 2019

JACC: Cardiovascular Imaging

119

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show abstract

“…Our findings also suggest that female patients with LVH might show LGE more frequently than male patients with LVH. Recent reports have suggested that LGE appears without LVH particularly in female Fabry patients [19,20]. Although all of our patients with LGE already had LVH, female patients had milder LVH than male patients, possibly reflecting the earlier presentation of LGE in female patients than in male patients.…”

Section: Discussionmentioning

confidence: 47%

Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients

Nojiri

Anan

Morimoto

et al. 2020

Journal of Cardiology

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Recently, we reported that nearly one-third of males and onefourth of females had LVH among Fabry patients prior to enzyme replacement therapy (ERT) [9]. We also showed that the appearance of LVH was age-dependent, and the progression rate of left ventricular mass (LVM) was higher in male patients than in female patients [9,10]. LVH itself is a key manifestation of a heart A B S T R A C T Background: Fabry disease is one of the causes of left ventricular hypertrophy (LVH) and can be treated with enzyme replacement therapy or pharmacological chaperone therapy. Late gadolinium enhancement (LGE) in cardiac magnetic resonance (CMR) can identify myocardial fibrosis and be used for the stratification in LVH. However, the details of the prevalence and characteristics of LGE in Japanese Fabry patients have not been reported. Methods: We evaluated myocardial involvement in 26 Fabry patients (10 males, 16 females) using gadolinium-enhanced CMR. LGE areas were analyzed using the previously reported scoring method. Echocardiography was also performed to evaluate the left ventricular function and left ventricular mass. Results: LGE on CMR images was positive in 5 out of 26 patients, and all patients with LGE-positive findings suffered from LVH (2 out of 5 male patients and 3 out of 4 female patients with LVH on echocardiography). LGE was specifically localized at the mid-wall in the infero-lateral area of the left ventricle.LGE-positive patients seemed to be older, and tended to have a larger left ventricular mass index and higher B-type natriuretic peptide level than LGE-negative patients. Conclusions: These results revealed that specific localization of LGE was present in Fabry patients.

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“…In the case of later-onset phenotypes, the monitoring procedures should be focused on the affected organ (ie, heart) and its periodicity should be determined case by case. 56 In children diagnosed with pathogenic GLA variants responsible for later-onset phenotype, through either screening protocols or cascade genetic testing within families, particular attention should be given to appropriate genetic counselling and the delivery of detailed information on the natural course of this form. Because later-onset FD often become overt only in adulthood, patient monitoring should be adapted and unnecessary procedures and treatment avoided.…”

Section: Baseline Clinical Work-up and Subsequent Monitoringmentioning

confidence: 99%

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Germain¹,

Fouilhoux²,

et al. 2019

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Fabry disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient α-galactosidase A (AGAL-A). ERT reduces symptoms, improves quality of life (QoL), and improves clinical signs and biochemical markers. ERT initiation in childhood could slow or stop progressive organ damage. Preventative treatment of FD from childhood is thought to avoid organ damage in later life, prompting a French expert working group to collaborate and produce recommendations for treating and monitoring children with FD. Organ involvement should be assessed by age 5 for asymptomatic boys (age 12-15 for asymptomatic girls), and immediately for children diagnosed via symptoms. The renal, cardiac, nervous and gastrointestinal systems should be assessed, as well as bone, skin, eyes, hearing, and QoL. The plasma biomarker globotriaosylsphingosine is also useful. ERT should be considered for symptomatic boys and girls with neuropathic pain, pathological albuminuria (≥3 mg/mmol creatinine), severe GI involvement and abdominal pain or cardiac involvement. ERT should be considered for asymptomatic boys from the age of 7. Organ involvement should be treated as needed. Early diagnosis and management of FD represents a promising strategy to reduce organ damage, morbidity and premature mortality in adulthood.

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Later Onset Fabry Disease, Cardiac Damage Progress in Silence

Cited by 85 publications

References 35 publications

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

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