{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T13:11:07Z","timestamp":1777900267604,"version":"3.51.4"},"reference-count":27,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: In patients with left ventricular hypertrophy, resting structural parameters alone may not explain exertional symptoms. Hence, we investigate whether combined Cardiopulmonary Exercise Testing- Exercise Stress Echocardiography (CPET-ESE) can provide an integrated functional characterisation of hypertrophic phenotypes. Methods: As a preliminary investigation, this prospective single-centre pilot study enrols 43 patients, categorised into: obstructive hypertrophic cardiomyopathy (n = 19), transthyretin cardiac amyloidosis (n = 15), or preserved-ejection-fraction hypertrophic phenotypes (n = 9). Patients undergo symptom-limited semi-supine CPET-ESE on an electronically braked cycle ergometer with an individualised ramp protocol. Peak effort is defined by symptom limitation and respiratory exchange ratio criteria (RER\u22651.05), while peak VO2 is defined as the highest 30 s averaged value. Results: Exercise responses differ across phenotypes. Patients with obstructive hypertrophic cardiomyopathy have higher peak VO2 than the other groups, despite their lower chronotropic reserve. The preserved-ejection-fraction hypertrophic group shows lower peripheral oxygen extraction, whereas transthyretin amyloidosis shows a mixed central and peripheral limitation pattern. Right ventricle\u2013pulmonary artery uncoupling is observed in the latter two groups. Conclusions: The use of CPET-ESE may help describe distinct physiological exercise profiles in hypertrophic phenotypes, but these findings should be considered exploratory. The small, heterogeneous and single-centre cohort precludes definitive mechanistic or predictive conclusions and supports the need for larger validation studies.<\/jats:p>","DOI":"10.3390\/jcm15093470","type":"journal-article","created":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T10:15:27Z","timestamp":1777630527000},"page":"3470","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Functional Assessment of Hypertrophic Phenotype Cardiomyopathies Using Combined Cardiopulmonary Exercise Testing and Echocardiography: A Pilot Single-Centre Study"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-2856-2969","authenticated-orcid":false,"given":"Mattia","family":"Scolari","sequence":"first","affiliation":[{"name":"Health Science Interdisciplinary Center, Sant\u2019Anna School of Advanced Studies, 56127 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0645-4711","authenticated-orcid":false,"given":"Iacopo","family":"Fabiani","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4801-9996","authenticated-orcid":false,"given":"Lorenzo","family":"Bazan","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University of Pisa, 56126 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giancarlo","family":"Todiere","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Arzilli","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Petersen","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2407-5942","authenticated-orcid":false,"given":"Ignazio Alessio","family":"Gueli","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Benelli","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8347-4353","authenticated-orcid":false,"given":"Carmen","family":"Corciulo","sequence":"additional","affiliation":[{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0723-4753","authenticated-orcid":false,"given":"Claudio","family":"Passino","sequence":"additional","affiliation":[{"name":"Health Science Interdisciplinary Center, Sant\u2019Anna School of Advanced Studies, 56127 Pisa, Italy"},{"name":"Fondazione Toscana Gabriele Monasterio (FTGM), 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1161\/01.CIR.102.4.470","article-title":"Left Ventricular Hypertrophy","volume":"102","author":"Lorell","year":"2000","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.echo.2014.10.003","article-title":"Recommendations for Cardiac Chamber Quantification by Echocardiography in Adults","volume":"28","author":"Lang","year":"2015","journal-title":"J. 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