BACKGROUND: Severe left ventricular (LV) systolic dysfunction is an uncommon complication of hypertrophic cardiomyopathy (HCM) that is associated with poor prognosis. Small observational series suggest that patients with rare causes of HCM are more likely to develop systolic impairment than those with idiopathic disease or mutations in cardiac sarcomeric protein genes. The aim of this study was to test this hypothesis by comparing the prevalence of systolic dysfunction and its impact on prognosis in patients with different causes of HCM. METHODS AND RESULTS: 1697 patients (52 (40-63) years, 1160 (68%) males) with HCM followed at two European referral centres were studied. Diagnosis of specific aetiologies was made on the basis of clinical examination, cardiac imaging and targeted genetic and biochemical testing. The primary survival outcome was all-cause mortality or heart transplantation (HTx) for end-stage heart failure (HF). Secondary outcomes were HF-related death, sudden cardiac death, stroke-related death and non-cardiovascular death. Systolic dysfunction (LV ejection fraction <50% by two-dimensional (2D) echocardiography) at first evaluation was more frequent in rare phenocopies than in idiopathic or sarcomeric HCM (105/409 (26%) vs 40/1288 (3%), respectively (p<0.0001)). All-cause death/HTx and HF-related death were more frequent in rare phenocopies compared with idiopathic or sarcomeric HCM (p<0.0001). All-cause mortality and HF-related death were highest in patients with cardiac amyloidosis (p<0.0001). CONCLUSIONS: In adults with HCM, LV systolic dysfunction is more frequent in those with rare phenocopies. When combined with age at presentation, it is a marker for specific aetiologies and is associated with poorer long-term survival. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
BACKGROUND: Severe left ventricular (LV) systolic dysfunction is an uncommon complication of hypertrophic cardiomyopathy (HCM) that is associated with poor prognosis. Small observational series suggest that patients with rare causes of HCM are more likely to develop systolic impairment than those with idiopathic disease or mutations in cardiac sarcomeric protein genes. The aim of this study was to test this hypothesis by comparing the prevalence of systolic dysfunction and its impact on prognosis in patients with different causes of HCM. METHODS AND RESULTS: 1697 patients (52 (40-63) years, 1160 (68%) males) with HCM followed at two European referral centres were studied. Diagnosis of specific aetiologies was made on the basis of clinical examination, cardiac imaging and targeted genetic and biochemical testing. The primary survival outcome was all-cause mortality or heart transplantation (HTx) for end-stage heart failure (HF). Secondary outcomes were HF-related death, sudden cardiac death, stroke-related death and non-cardiovascular death. Systolic dysfunction (LV ejection fraction <50% by two-dimensional (2D) echocardiography) at first evaluation was more frequent in rare phenocopies than in idiopathic or sarcomeric HCM (105/409 (26%) vs 40/1288 (3%), respectively (p<0.0001)). All-cause death/HTx and HF-related death were more frequent in rare phenocopies compared with idiopathic or sarcomeric HCM (p<0.0001). All-cause mortality and HF-related death were highest in patients with cardiac amyloidosis (p<0.0001). CONCLUSIONS: In adults with HCM, LV systolic dysfunction is more frequent in those with rare phenocopies. When combined with age at presentation, it is a marker for specific aetiologies and is associated with poorer long-term survival. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
Authors: Joel Salazar-Mendiguchía; Juan Pablo Ochoa; Julian Palomino-Doza; Fernando Domínguez; Carles Díez-López; Mohammed Akhtar; Soraya Ramiro-León; María M Clemente; Antonia Pérez-Cejas; María Robledo; Iria Gómez-Díaz; María Luisa Peña-Peña; Vicente Climent; Francisco Salmerón-Martínez; Celestino Hernández; Pablo E García-Granja; M Victoria Mogollón; Ivonne Cárdenas-Reyes; Marcos Cicerchia; Diego García-Giustiniani; Arsonval Lamounier; Belén Gil-Fournier; Felícitas Díaz-Flores; Rafael Salguero; Luis Santomé; Petros Syrris; Montse Olivé; Pablo García-Pavía; Martín Ortiz-Genga; Perry M Elliott; Lorenzo Monserrat Journal: Heart Date: 2020-05-25 Impact factor: 5.994
Authors: Sari U M Vanninen; Krista Leivo; Eija H Seppälä; Katriina Aalto-Setälä; Olli Pitkänen; Piia Suursalmi; Antti-Pekka Annala; Ismo Anttila; Tero-Pekka Alastalo; Samuel Myllykangas; Tiina M Heliö; Juha W Koskenvuo Journal: PLoS One Date: 2018-09-20 Impact factor: 3.240
Authors: Letizia Spinelli; Giuseppe Giugliano; Antonio Pisani; Massimo Imbriaco; Eleonora Riccio; Camilla Russo; Alberto Cuocolo; Bruno Trimarco; Giovanni Esposito Journal: Int J Cardiovasc Imaging Date: 2020-11-19 Impact factor: 2.357