Results A total of 318 (39%) patients had a pathogenic or likely pathogenic sarcomere gene variant; 240 (29%) a TTR and GLA variant; 154 (19%) a syndromic cause; and 106 (13%) no identifiable cause. In the overall cohort, 2979 RFs were identified. Of these, 1018 (34%) were identifiable from clinical history and examination alone (generalist setting) and 1961 (66%) by 12-lead electrocardiogram and echocardiography (cardiologist’s office). Non-sarcomeric patients were diagnosed more often aged <20 and after 60 years (476/500, 95%). Syndromic diseases such as Rasopathies, inherited metabolic disorders, and mitochondrial disorders were diagnosed in neonatal/early childhood (mean age 3 ± 2 years), whereas patients with Danon disease, Friedreich’s ataxia, Noonan syndrome, and PRKAG2 cardiomyopathy were identified mostly during adolescence (mean age 16 ± 8 years). Non-cardiac RFs identified by clinical history, physical examination, and routine laboratory testing were most frequent in patients with HCM caused by Rasopathies, inherited metabolic disorders, and mitochondrial disorders (48%, 47%, and 57%, respectively). Physical RFs were almost exclusively observed in patients with a definite non-sarcomeric aetiology [348/350 (99%)]. On the contrary, most RFs associated with geno-positive and geno-negative HCM were derived from electrocardiogram and echocardiography [692/990 (70%) and 332/375 (88%), respectively]. Conclusions Red flags are a common finding in patients presenting with HCM, most commonly non-cardiac in non-sarcomeric aetiology and cardiac in sarcomeric HCM. Over 34% of RF, most relevant to rare HCM phenocopies, can be potentially detected in a generalist setting. Investing in high-touch-low tech, widespread awareness for HCM-related RF may provide substantial advantage in terms of diagnostic yield and appropriate use of resources.Background and The European Society of Cardiology guidelines recommend a systematic search for diagnostic clues or ‘red flags’ (RFs) in Aims patients with hypertrophic cardiomyopathy (HCM) to better tailor disease management.
Hypertrophic cardiomyopathy: prevalence of disease-specific red flags / Maurizi, N., Monda, E., Biagini, E., Field, E., Passantino, S., Dall' Aglio, G., Fumagalli, C., Antiochos, P., Skalidis, I., Pieroni, M., Argirò, A., Girolami, F., Cecchi, F., Barbey, F., Monney, P., Elliott, P.M., Kaski, J.P., Limongelli, G., Olivotto, I.. - In: EUROPEAN HEART JOURNAL. - ISSN 0195-668X. - ELETTRONICO. - 46:(2025), pp. 3082-3094. [10.1093/eurheartj/ehaf026]
Hypertrophic cardiomyopathy: prevalence of disease-specific red flags
Passantino, Silvia;Pieroni, Maurizio;Girolami, Francesca;Cecchi, Franco;Olivotto, Iacopo
2025
Abstract
Results A total of 318 (39%) patients had a pathogenic or likely pathogenic sarcomere gene variant; 240 (29%) a TTR and GLA variant; 154 (19%) a syndromic cause; and 106 (13%) no identifiable cause. In the overall cohort, 2979 RFs were identified. Of these, 1018 (34%) were identifiable from clinical history and examination alone (generalist setting) and 1961 (66%) by 12-lead electrocardiogram and echocardiography (cardiologist’s office). Non-sarcomeric patients were diagnosed more often aged <20 and after 60 years (476/500, 95%). Syndromic diseases such as Rasopathies, inherited metabolic disorders, and mitochondrial disorders were diagnosed in neonatal/early childhood (mean age 3 ± 2 years), whereas patients with Danon disease, Friedreich’s ataxia, Noonan syndrome, and PRKAG2 cardiomyopathy were identified mostly during adolescence (mean age 16 ± 8 years). Non-cardiac RFs identified by clinical history, physical examination, and routine laboratory testing were most frequent in patients with HCM caused by Rasopathies, inherited metabolic disorders, and mitochondrial disorders (48%, 47%, and 57%, respectively). Physical RFs were almost exclusively observed in patients with a definite non-sarcomeric aetiology [348/350 (99%)]. On the contrary, most RFs associated with geno-positive and geno-negative HCM were derived from electrocardiogram and echocardiography [692/990 (70%) and 332/375 (88%), respectively]. Conclusions Red flags are a common finding in patients presenting with HCM, most commonly non-cardiac in non-sarcomeric aetiology and cardiac in sarcomeric HCM. Over 34% of RF, most relevant to rare HCM phenocopies, can be potentially detected in a generalist setting. Investing in high-touch-low tech, widespread awareness for HCM-related RF may provide substantial advantage in terms of diagnostic yield and appropriate use of resources.Background and The European Society of Cardiology guidelines recommend a systematic search for diagnostic clues or ‘red flags’ (RFs) in Aims patients with hypertrophic cardiomyopathy (HCM) to better tailor disease management.
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