Mariana Mirabel1, Thibaud Damy2, Erwan Donal3, Olivier Huttin4, Fabien Labombarda5, Jean-Christophe Eicher6, Claudio Cervino7, Marianna Laurito7, Lucile Offredo8, Muriel Tafflet8, Xavier Jouven1, Geltrude Giura9, Michel Desnos9, Xavier Jeunemaître10, Jean-Philippe Empana8, Philippe Charron11, Gilbert Habib12, Patricia Réant13, Albert Hagège14. 1. Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Cardiology Department, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; INSERM CMR970, Paris Cardiovascular Research Center - PARCC, Paris, France. 2. Assistance Publique-Hôpitaux de Paris, Hôpital Henri Mondor, GRC Amyloid Research Institute, IMRB and Cardiology Department, 94000 Créteil, France. 3. Centre Hospitalo-Universitaire de Rennes, Hôpital Pontchaillou, Cardiology Department,- CIC-IT 1414 and LTSI Inserm U 1099 Université Rennes -1, Rennes, France. 4. Centre Hospitalo-Universitaire de Nancy, Hôpitaux de Brabois, Cardiology Department, Nancy, France. 5. Centre Hospitalo-Universitaire de Caen, Hôpital Côte de Nacre, Cardiology Department, Caen, France. 6. Centre Hospitalo-Universitaire de Dijon, Dijon, Hôpital du Bocage, Cardiology Department, France. 7. Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Cardiology Department, Paris, France. 8. INSERM CMR970, Paris Cardiovascular Research Center - PARCC, Paris, France. 9. Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Cardiology Department, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France. 10. Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Department of Genetics, Paris, France. 11. Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Cardiology Department & ICAN, Paris, France. 12. Assistance Publique Hôpitaux de Marseille, Hôpital La Timone, Cardiology Department, Marseille, France. 13. Centre Hospitalo-Universitaire de Bordeaux, Hôpital Haut Levêque, Cardiology Department, Université de Bordeaux, INSERM 1045, IHU Lyric, Pessac, CIC1401 Bordeaux, France. 14. Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Cardiology Department, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; INSERM CMR970, Paris Cardiovascular Research Center - PARCC, Paris, France. Electronic address: albert.hagege@aphp.fr.
Abstract
BACKGROUND: Our knowledge of hypertrophic cardiomyopathy (HCM) mainly originates from quarternary centres. The objective is to assess the current management of HCM patients in a large multicentre French register according to the level of expertise. METHODS AND RESULTS: A total of 1431 HCM patients were recruited across 26 (11 expert and 15 non-expert) centres in REMY, a prospective hospital-based register of adult HCM patients. A sarcomeric origin was suspected in 1284 (89.7%) patients [261 (20.3%) with a reported gene mutation, 242 (18.8%) genotype-negative], while 107 (7.5%) had a diagnosis of non-sarcomeric HCM. Patients managed in non-expert centres were older (P < 0.01) and presented more often with NYHA III/IV class dyspnoea (P < 0.01), congestive heart failure (P < 0.01), low LEVF (P < 0.01), less often with a syncope history (P < 0.01) and lower LV obstruction (P < 0.01) than patients in expert centres. Genotype positive sarcomeric aetiologies were less frequent in non-expert centres (P < 0.01). The use of diagnostic and prognostic tests as cardiac MRI (P < 0.001), genetic (P < 0.001) and alpha-galactosidase A enzyme level testing (P < 0.001), Holter ECG (P < 0.001), and exercise test (P < 0.001), was lower in non-expert centres. Septal ablation procedures using alcohol (P < 0.001) or myectomy (P < 0.001) were more frequent in expert centres. CONCLUSION: In real life practice, only a minority of HCM patients are identified as sarcomere positive as per genetic testing. The management of HCM patients varies according to the centre's level of expertise, with less access to diagnostic and prognostic tests in non-expert centres. Non-sarcomeric HCM may therefore be overlooked despite specific treatment in some aetiologies.
BACKGROUND: Our knowledge of hypertrophic cardiomyopathy (HCM) mainly originates from quarternary centres. The objective is to assess the current management of HCM patients in a large multicentre French register according to the level of expertise. METHODS AND RESULTS: A total of 1431 HCM patients were recruited across 26 (11 expert and 15 non-expert) centres in REMY, a prospective hospital-based register of adult HCM patients. A sarcomeric origin was suspected in 1284 (89.7%) patients [261 (20.3%) with a reported gene mutation, 242 (18.8%) genotype-negative], while 107 (7.5%) had a diagnosis of non-sarcomeric HCM. Patients managed in non-expert centres were older (P < 0.01) and presented more often with NYHA III/IV class dyspnoea (P < 0.01), congestive heart failure (P < 0.01), low LEVF (P < 0.01), less often with a syncope history (P < 0.01) and lower LV obstruction (P < 0.01) than patients in expert centres. Genotype positive sarcomeric aetiologies were less frequent in non-expert centres (P < 0.01). The use of diagnostic and prognostic tests as cardiac MRI (P < 0.001), genetic (P < 0.001) and alpha-galactosidase A enzyme level testing (P < 0.001), Holter ECG (P < 0.001), and exercise test (P < 0.001), was lower in non-expert centres. Septal ablation procedures using alcohol (P < 0.001) or myectomy (P < 0.001) were more frequent in expert centres. CONCLUSION: In real life practice, only a minority of HCM patients are identified as sarcomere positive as per genetic testing. The management of HCM patients varies according to the centre's level of expertise, with less access to diagnostic and prognostic tests in non-expert centres. Non-sarcomeric HCM may therefore be overlooked despite specific treatment in some aetiologies.