Maurizi, Niccolo;
Monda, Emanuele;
Pieroni, Maurizio;
Biagini, Elena;
Field, Ella;
Passantino, Silvia;
Dallaglio, Gabriella;
... Olivotto, Iacopo; + view all
(2025)
Development of a smartphone-based app to support the differential diagnosis in patients with primary left ventricular hypertrophy.
European Heart Journal - Digital Health
, Article ztaf105. 10.1093/ehjdh/ztaf105.
(In press).
Preview |
Text
Thick Heart App Eur H J 2025.pdf - Published Version Download (2MB) | Preview |
Abstract
AIMS: Patients with primary left ventricular hypertrophy (LVH) often experience a diagnostic delay of several years, largely related to fragmented knowledge among different specialties and the rarity of the conditions. We developed and validated a digital support tool to guide the physician in the differential diagnostic process of patients presenting with primary LVH. METHODS AND RESULTS: A total of 818 patients with definitive diagnosis of sarcomeric hypertrophic cardiomyopathy (HCM) or one of its phenocopies [479 (62%) males, 48 ± 24 years] were included. Pre-specified disease-specific red flags (RFs) were categorized into five domains: family history, signs/symptoms, electrocardiography, echocardiographic, and laboratory. Each patient’s characteristics were inserted by two independent and blind investigators into the app. The diagnostic outcome, based on the presence/absence of RF, was categorized as follows: (i) most likely diagnosis, (ii) possible diagnosis, and (iii) less likely diagnosis. A total of 2979 RFs were identified and non-sarcomeric phenocopies exhibited a higher RF burden than sarcomeric HCM (3.9 vs. 2.7 RFs per patient, P = 0.007), with systemic features and extracardiac findings being strong predictors of non-sarcomeric disease. Thick-Heart App correctly classified 93% of cases into the most likely diagnosis category (sensitivity of 88–100%, specificity 97%). The positive predictive value (PPV) for TTR amyloidosis reached 92%, while Friedrich’s ataxia was correctly identified in all cases (PPV = 100%). CONCLUSION: The Thick-Heart App correctly classified 93% of cases into the most-likely diagnosis category (sensitivity 88–100%, specificity 97%). Our study underscores the potential clinical value of digital decision support tools to enable timelier identification of specific cardiomyopathies, by promoting awareness in non-reference settings.
| Type: | Article |
|---|---|
| Title: | Development of a smartphone-based app to support the differential diagnosis in patients with primary left ventricular hypertrophy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/ehjdh/ztaf105 |
| Publisher version: | https://doi.org/10.1093/ehjdh/ztaf105 |
| Language: | English |
| Additional information: | © The Author(s) 2025. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/). |
| Keywords: | Hypertrophic cardiomyopathy, Phenocopies, Red flags, App |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10216176 |
Archive Staff Only
 |
View Item |
