Comparison of echocardiographic parameters in Fabry cardiomyopathy and light‐chain cardiac amyloidosis

Abstract

Background Fabry cardiomyopathy (FC) and light‐chain amyloid cardiomyopathy (AL) present with concentric left ventricular (LV) hypertrophy/remodeling and diastolic rather than systolic dysfunction. Direct comparisons are difficult due to rarity and confounded by variability of LV thickness. Aims To compare LV diastolic and systolic properties between patients with FC and AL in a cohort matched for interventricular septal thickness (IVS). Methods A two‐center echocardiographic analysis was performed, comprising 118 patients with IVS ≥12 mm (FC and AL 59 patients each) matched by IVS. Results Fabry cardiomyopathy patients had larger LV end‐diastolic diameter (47.7 [44.0–50.9] vs 45.0 [41.5–49.0] mm, P = 0.002), better LV ejection fraction (EF 68.7 [63.4–74.0] vs 63.0 [54.0–70.0]%, P = 0.001) and midwall fractional shortening (midFS 14.8 [13.0–16.1] vs 12.1 [8.9–15.0]%, P = 0.006). LV EF <40% was rare in both (2% vs 7%, P = 0.17). AL patients expressed higher LV diastolic dysfunction grade (III in 26% vs 4%, II in 21% vs 12% and I in 54% vs 84%, P = 0.004), with higher E/e’ ratio (13.6 [10.2–18.8] vs 9.8 [7.5–12.3], P < 0.0001). Average E/e’ ratio and midFS were significantly associated with NYHA severity in both groups (P < 0.05 for all). Conclusions Matched AL patients had worse LV diastolic function than FC, driven by E/e’. Significant LV systolic dysfunction was rare overall. MidFS and E/e’ were associated with heart failure severity in both groups.

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

“…Left ventricular ejection fraction is usually normal in FD, but can be reduced in patients with extensive fibrosis, coexisting coronary artery disease and ventricular dyssynchrony induced by conduction disease 123 . Systolic and diastolic tissue Doppler velocities at the mitral annulus are decreased in cases with LVH but may overlap with normal ranges in early stages of the disease 124–127 …”

“…Diastolic function can be normal in the early phase of cardiac involvement, but as the disease progresses, transmitral flow and mitral annular tissue Doppler velocities become abnormal. A restrictive filling pattern is rarely present and is usually associated with advanced cardiomyopathy 123,124,130,136,137 . Left atrial dilatation is common 137 .…”

Clinical case of Fabry disease: an interesting finding in cardiac surgery patient

“…Фракція викиду лівого шлуночка (ФВЛШ) при ХФ зазвичай збережена, однак вона може знижуватися при розвитку поширеного фіброзу, супутній ішемічній хворобі серця та шлуночковій диссинхронії [39,43]. Дилатація порожнини ЛШ та зниження ФВЛШ супроводжуються появою симптомів застійної серцевої недостатності.…”

Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations

“…Available data suggest that similarly to other types of LVH, FD cardiomyopathy is associated with diastolic dysfunction (18). However, compared to amyloidosis, the prevalence of restrictive physiology is rare and limited to advanced cases (28). Pulmonary hypertension in FD is usually mild and does not explain the frequently seen right ventricular hypertrophy (25).…”