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

Abstract

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.

Cardiovascular magnetic resonance native T1 mapping in Anderson-Fabry disease: a systematic review and meta-analysis

“…Accordingly, myocardial native T1 values progressively decrease as LV wall thickness increases. Advanced hypertrophic stages of cardiac AFD are characterized by myocardial inflammation and development of interstitial fibrosis, with pseudo-normalization of native T1 times and extensive myocardial LGE, characterized by a typical pattern of distribution allowing a potential differential diagnosis from other forms of hypertrophic cardiomyopathy [ 30 , 40 , 41 ]. Native T1 mapping represents an important biomarker, as it allows early detection of cardiac damage in a pre-hypertrophic stage and discrimination between control subjects and AFD patients without LVH.…”

Rare Metabolic and Endocrine Diseases with Cardiovascular Involvement: Insights from Cardiovascular Magnetic Resonance – A Review

“…Myocardial tissue is characterized mainly by the method of late gadolinium enhancement (LGE) following intravenous administration of gadolinium and typically presents midmyocardial fibrosis in the basal and midventricular inferior-lateral wall of the left ventricle [9,[12][13][14]. However, atypical patterns of late enhancement in the basal anteroseptal and apical segment have also been observed in patients with asymmetric hypertrophy of the interventricular septum or with apical hypertrophy respectively [10,11].…”

Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional and Tissue Features

“…In FD LGE is usually located in the inferolateral basal wall of LV, with a mid-wall distribution (10). However, this pattern of LGE is not specific of Fabry disease, being found in other conditions as myocarditis, arrhythmogenic cardiomyopathy, sarcoidosis etc (45) In table 2 are shown data of LGE presentation reported in FD studies (10,23,24,26,(46)(47)(48)(49)(50)(51)(52). The overall prevalence of LGE in FD was 33% (in 145 out of 442 patients).…”

“…The overall prevalence of LGE in FD was 33% (in 145 out of 442 patients). Eight studies also reported the distribution of LGE in LV myocardium (10,24,(46)(47)(48)(49)(50)(51). LGE was non-ischemic in all the cases, 113 patients (94%) presented inferolateral basal midwall LGE, and 7 (6%) a different pattern.…”