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

Frontiers in Cardiovascular Medicine

Cardiovascular Medicine

Arnold C. T. Ng¹  Catherina Tjahjadi¹  Dariusz Korczyk¹  Mark S. Taylor²  Peter Mollee³  Fiona Kwok⁴  Karen Byth⁵  Aaisha Ferkh⁶  Luke Stefani⁶  Kasun De Silva⁶  Paul Geenty⁶  Eddy Kizana⁷  Liza Thomas⁸  David Richards⁹  Anita C. Boyd⁹ 

[1] Cardiology Department, Princess Alexandra Hospital, Brisbane, QLD, Australia;Department of Clinical Immunology and Allergy, Westmead Hospital, Westmead, NSW, Australia;Haematology Department, Princess Alexandra Hospital, Brisbane, QLD, Australia;School of Medicine, University of Queensland, Brisbane, QLD, Australia;Haematology Department, Westmead Hospital, Westmead, NSW, Australia;WSLHD Research and Education Network, Westmead Hospital, Westmead, NSW, Australia;Westmead Clinical School, University of Sydney, Westmead, NSW, Australia;Cardiology Department, Westmead Hospital, Westmead, NSW, Australia;Westmead Clinical School, University of Sydney, Westmead, NSW, Australia;Cardiology Department, Westmead Hospital, Westmead, NSW, Australia;Centre for Heart Research, The Westmead Institute for Medical Research, Westmead, NSW, Australia;Westmead Clinical School, University of Sydney, Westmead, NSW, Australia;Cardiology Department, Westmead Hospital, Westmead, NSW, Australia;South-West Clinical School, University of New South Wales, Liverpool, NSW, Australia;Westmead Private Cardiology, Westmead, NSW, Australia;

关键词: cardiac amyloidosis;    Fabry disease;    cardiac hypertrophy;    infiltrative cardiomyopathies;    echocardiography;    strain imaging;   

DOI  :  10.3389/fcvm.2023.1183485

 received in 2023-03-10, accepted in 2023-06-15,  发布年份 2023

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

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© 2023 Ferkh, Tjahjadi, Stefani, Geenty, Byth, De Silva, Boyd, Richards, Mollee, Korczyk, Taylor, Kwok, Kizana, Ng and Thomas.