Utility of Cardiovascular Magnetic Resonance in the Diagnosis of Anderson-Fabry Disease

Abstract

A 54-year-old man was evaluated for a 6-month history of intermittent palpitations with associated shortness of breath, fatigue, and lightheadedness. The episodes would last several hours and were triggered by exertion, although he never experienced syncope. He had no prior medical problems, and he had no family history of heart disease or unexplained sudden death.He was normotensive and had no abnormalities on physical examination. A 12-lead electrocardiogram showed sinus arrhythmia, left bundle-branch block, and left ventricular (LV) hypertrophy with associated ST-and T-wave strain abnormalities ( Figure A). A 2-dimensional echocardiogram demonstrated hyperdynamic LV systolic function with an ejection fraction of 65% (online-only Data Supplement Movie I). There was concentric LV hypertrophy, with the ventricular septum and free wall measuring 17 mm at end diastole. Biatrial enlargement was noted, but no valvular disease or LV outflow tract obstruction was present.A 1-month loop monitor recorded bursts of rapid atrial fibrillation and atrial tachycardia, which corresponded to his Figure. A 54-year-old man with Anderson-Fabry disease and cardiac involvement. A, Twelve-lead electrocardiogram showing sinus arrhythmia, left bundle branch block, and LV hypertrophy with strain ST-and T-wave abnormalities. B and C, Cine CMR at end diastole in the long-axis 4-chamber view (B) and the basal LV short-axis view (C) demonstrating concentric LV hypertrophy (17 mm maximal wall thickness in ventricular septum and LV free wall) with biatrial enlargement. D, Contrast-enhanced CMR image of the basal LV short axis with an area of late gadolinium enhancement confined to the midmyocardium of the inferolateral wall (arrows). LA indicates left atrium; RA, right atrium; and RV, right ventricle.

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

“…In patients with Anderson-Fabry disease, it has been reported that approximately half have LGE localized to the mid-myocardial portion of the basal inferolateral wall, sparing the subendocardium (191), a location and distribution of LGE that may help distinguish this disease from other forms of nonischemic cardiomyopathies such as HCM (189). Patterns of LGE in HCM are heterogeneous, may occur commonly in either the ventricular septum or LV free wall, and usually involve segments of the chamber that are most hypertrophied and do not conform to particular coronary arterial distributions (185).…”

Differences in Fabry Cardiomyopathy Between Female and Male Patients

“…Only a few female patients were included in these clinical studies (11,12). Moreover, subtle methods of assessing cardiac function with echocardiography (strain rate) or detecting replacement fibrosis with cardiac magnetic resonance (CMR) (late enhancement [LE]) (11)(12)(13)(14)(15)(16)(17)(18)(19) have not been used in studies focusing on Fabry cardiomyopathy in female patients (8,20). Up to now, there has been no established guideline how to monitor female patients and when (at which stage of the disease) to treat these patients with cardiac involvement caused by Fabry disease.…”

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology

“…Taking into account these results, we should stress the importance to perform CMR to stage and monitor Fabry cardiomyopathy, after diagnosis in both genders, even in apparently asymptomatic patients with a normal echocardiogram. CMR can be also fundamental in the diagnostic process of patients evaluated for cardiomyopathy, as LGE in the midmyocardium of the basal-inferolateral wall seems to be characteristic of Fabry disease [12]. It should be acknowledged that LGE in the midmyocardium of the basal-inferolateral wall can also be observed in other pathologies, including previous myocarditis [13].…”