Comparative analysis of phasic left atrial strain and left ventricular posterolateral strain pattern to discriminate Fabry cardiomyopathy from other forms of left ventricular hypertrophy

Frumkin, David; Mattig, Isa﻿bel; Laule, N; Daas, Maamoun Al; Canaan–Kühl, Sima; Knebel, Fabian; Stangl, Karl; Brand, Anna

doi:10.1111/echo.15224

Cited by 10 publications

(3 citation statements)

References 36 publications

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“…Possibly in FD, beyond the lysosomal storage of glycosphingolipids or the abnormal synthesis of sarcomeric proteins, there is interference in sarcomeric contraction and relaxation, resulting in a decrease in longitudinal myocardial strain [ 22 , 23 ]. Left atrial strain is also decreased in FD, hence, adding left atrial strain to an echocardiogram with LVH of unclear etiology may be useful to identify FD as a potential cause [ 24 ].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of papillary muscle hypertrophy in fabry disease

Cianciulli,

Saccheri,

Llobera

et al. 2023

BMC Cardiovasc Disord

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Background and aims Fabry disease (FD) is an X-linked genetic lysosomal disease, in which a deficit in the alpha-galactosidase A enzyme results in lysosomal build-up of globotriaosylceramide in several organs, causing cardiac, renal and cerebrovascular complications. The aim of this study was to assess the prevalence of papillary muscle hypertrophy (PMH) in patients with FD. Methods A group of 63 patients with FD and a positive genetic diagnosis were studied and were divided into two groups: one included 24 patients with FD and LVH and another group included 39 patients with FD and without LVH. Papillary muscles were measured from the left parasternal short axis view, defining PMH as a diastolic thickness greater than 11 mm in any diameter. Results Patients with FD and LVH had a high prevalence of anterolateral PMH (66.6%), and such prevalence was lower for the posteromedial PMH (33.3%). However, patients who had not yet developed LVH had a high prevalence of anterolateral PMH (33.3%). Conclusions Patients with FD in the pre-clinical stage (without LVH) have a high prevalence of PMH, especially involving the anterolateral papillary muscle. This finding could be an early marker for the development of LVH, allowing to suspect the disease during its early stages, and begin enzyme replacement therapy in the appropriate patients.

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Section: Discussionmentioning

confidence: 99%

Prevalence of papillary muscle hypertrophy in fabry disease

Cianciulli,

Saccheri,

Llobera

et al. 2023

BMC Cardiovasc Disord

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“…More specific echocardiographic measurements, including LA strain and regional strain (e.g., LV posterolateral strain), which have shown some utility in CA ( 36 ) and AFD ( 37 ), were not explored in this study as they are complex to perform, and we sought to incorporate simple measurements and formulae for clinical utility. Another inherent limitation is the vendor dependency of strain analysis, particularly in the case of GE EchoPAC (used in this study), which is vendor-specific.…”

Section: Discussionmentioning

confidence: 99%

Cardiac “hypertrophy” phenotyping: differentiating aetiologies with increased left ventricular wall thickness on echocardiography

Ferkh

Tjahjadi

Stefani

et al. 2023

Front. Cardiovasc. Med.

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AimsDifferentiating phenotypes of cardiac “hypertrophy” characterised by increased wall thickness on echocardiography is essential for management and prognostication. Transthoracic echocardiography is the most commonly used screening test for this purpose. We sought to identify echocardiographic markers that distinguish infiltrative and storage disorders that present with increased left ventricular (LV) wall thickness, namely, cardiac amyloidosis (CA) and Anderson–Fabry disease (AFD), from hypertensive heart disease (HHT).MethodsPatients were retrospectively recruited from Westmead Hospital, Sydney, and Princess Alexandra Hospital, Brisbane. LV structural, systolic, and diastolic function parameters, as well as global (LVGLS) and segmental longitudinal strains, were assessed. Previously reported echocardiographic parameters including relative apical sparing ratio (RAS), LV ejection fraction-to-strain ratio (EFSR), mass-to-strain ratio (MSR) and amyloidosis index (AMYLI) score (relative wall thickness × E/e′) were evaluated.ResultsA total of 209 patients {120 CA [58 transthyretin amyloidosis (ATTR) and 62 light-chain (AL) amyloidosis], 31 AFD and 58 HHT patients; mean age 64.1 ± 13.7 years, 75% male} comprised the study cohort. Echocardiographic measurements differed across the three groups, The LV mass index was higher in both CA {median 126.6 [interquartile range (IQR) 106.4–157.9 g/m2]} and AFD [median 134 (IQR 108.8–152.2 g/m2)] vs. HHT [median 92.7 (IQR 79.6–102.3 g/m2), p < 0.05]. LVGLS was lowest in CA [median 12.29 (IQR 10.33–15.56%)] followed by AFD [median 16.92 (IQR 14.14–18.78%)] then HHT [median 18.56 (IQR 17.51–19.97%), p < 0.05]. Diastolic function measurements including average e′ and E/e′ were most impaired in CA and least impaired in AFD. Indexed left atrial volume was highest in CA. EFSR and MSR differentiated secondary (CA + AFD) from HHT [receiver operating curve–area under the curve (ROC-AUC) of 0.80 and 0.91, respectively]. RAS and AMYLI score differentiated CA from AFD (ROC-AUC of 0.79 and 0.80, respectively). A linear discriminant analysis with stepwise variable selection using linear combinations of LV mass index, average e′, LVGLS and basal strain correctly classified 79% of all cases.ConclusionSimple echocardiographic parameters differentiate between different “hypertrophic” cardiac phenotypes. These have potential utility as a screening tool to guide further confirmatory testing.

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“… 10 Regional LV strain patterns such as the apical sparing pattern in CA and the phenomenon of posterolateral strain deficiency (PLSD) in FD have been proposed as more sensitive and specific echocardiographic findings. 11–14 In clinical practice, both strain patterns, however, may be observed in CA and FD, respectively, limiting their specificity to rule-in CA or FD. Recently, the use of apical sparing as a specific biomarker for CA has been questioned.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic value of left ventricular layer strain and specific regional strain patterns in cardiac amyloidosis and Fabry disease

Steudel,

Barzen,

Frumkin

et al. 2024

European Heart Journal Open

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Aims Layer-specific left ventricular (LV) strain alterations have been suggested as a specific finding in Fabry Disease (FD). Our study aimed to assess the diagnostic value of layer specific radial strain (RS) indices compared to the established LV regional strain pattern in Cardiac Amyloidosis (CA) and FD, i.e. apical sparing, and posterolateral strain deficiency. Methods and Results We retrospectively analyzed the global, subendocardial, subepicardial LV radial strain, the corresponding strain gradient, as well as the regional and global longitudinal strain. The diagnostic accuracy of the diverse LV strain analyses was comparatively assessed using receiver operating curve (ROC) and multivariable regression analyses. In 40 FD and 76 CA patients, CA featured more reduced layer strain values [Global RS -12.3 (-15.6 to -9.6) in CA vs. -16.7 (-20.0 to-13.6) in FD; p < 0.001; subendocardial RS -22.3 (-27.4 to -15.9) vs. -28.3 (-31.8 to -23.6), p < 0.001; subepicardial RS -6.6 (-8.6 to -4.7) in CA vs. -8.9 (-11.7 to- 6.5 in FD; p < 0.001]. Global radial and longitudinal strain held an AUC of 0.75 (0.66 to 0.84) and AUC 0.73 (0.63 to 0.83). While the apical sparing and PLSD strain pattern showed the highest accuracy as single parameters [AUC 0.87 (0.79 to 0.95) and 0.81 (0.72 to 0.89), p < 0.001], the combination of subendocardial RS and the apical sparing pattern featured the highest diagnostic accuracy [AUC 0.92 (0.87 to 0.97)]. Conclusion Combining radial strain derived parameters to the established strain pattern apical sparing and PLSD improve the diagnostic accuracy in the echocardiographic assessment in suspected storage disease.

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Comparative analysis of phasic left atrial strain and left ventricular posterolateral strain pattern to discriminate Fabry cardiomyopathy from other forms of left ventricular hypertrophy

Cited by 10 publications

References 36 publications

Prevalence of papillary muscle hypertrophy in fabry disease

Prevalence of papillary muscle hypertrophy in fabry disease

Cardiac “hypertrophy” phenotyping: differentiating aetiologies with increased left ventricular wall thickness on echocardiography

Diagnostic value of left ventricular layer strain and specific regional strain patterns in cardiac amyloidosis and Fabry disease

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