title: Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy.
abstract: 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.
  
  
  
  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).
  
  
  
  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.
authors: Centre for Inherited Cardiovascular Diseases, St Bartholomew's Hospital, London, London, UK.|Cardiology, Department of Experimental Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Bologna, Italy.
authors: Stefania
authors: S
authors: Rosmini
authors: Cardiology, Department of Experimental Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Bologna, Italy.
authors: Elena
authors: E
authors: Biagini
authors: Centre for Inherited Cardiovascular Diseases, St Bartholomew's Hospital, London, London, UK.|Institute of Cardiovascular Science, University College London, London, UK.
authors: Costantinos
authors: C
authors: O'Mahony
authors: Centre for Inherited Cardiovascular Diseases, St Bartholomew's Hospital, London, London, UK.|Institute of Cardiovascular Science, University College London, London, UK.
authors: Heerajnarain
authors: H
authors: Bulluck
authors: Cardiology, Department of Experimental Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Bologna, Italy.
authors: Niccolo'
authors: N
authors: Ruozi
authors: Institute of Cardiovascular Science, University College London, London, UK.|Cardiovascular Centre, University of Lisbon, Lisbon, Portugal.|Cardiology Department, Hospital Garcia de Orta, Almada, Portugal.
authors: Luis R
authors: LR
authors: Lopes
authors: Centre for Inherited Cardiovascular Diseases, St Bartholomew's Hospital, London, London, UK.|Institute of Cardiovascular Science, University College London, London, UK.
authors: Oliver
authors: O
authors: Guttmann
authors: University of Bordeaux, University Hospital of Bordeaux, Bordeaux, France.
authors: Patricia
authors: P
authors: Reant
authors: Cardiology, Department of Experimental Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Bologna, Italy.|National Amyloidosis Centre, Royal Free Hospital, London, UK.
authors: Cristina C
authors: CC
authors: Quarta
authors: Institute of Cardiovascular Science, University College London, London, UK.
authors: Antonis
authors: A
authors: Pantazis
authors: Institute of Cardiovascular Science, University College London, London, UK.
authors: Maria
authors: M
authors: Tome-Esteban
authors: Institute of Cardiovascular Science, University College London, London, UK.
authors: William J
authors: WJ
authors: Mckenna
authors: Cardiology, Department of Experimental Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Bologna, Italy.
authors: Claudio
authors: C
authors: Rapezzi
authors: Centre for Inherited Cardiovascular Diseases, St Bartholomew's Hospital, London, London, UK.|Institute of Cardiovascular Science, University College London, London, UK.
authors: Perry M
authors: 0000-0003-3383-3984
authors: PM
authors: Elliott
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D016757:Death, Sudden, Cardiac / Q000453:epidemiology; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006333:Heart Failure / Q000453:epidemiology / Q000503:physiopathology / Q000601:surgery; D016027:Heart Transplantation; D006801:Humans; D007558:Italy / Q000453:epidemiology; D053208:Kaplan-Meier Estimate; D008131:London / Q000453:epidemiology; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors; D017741:Survivors; D013599:Systole; D013997:Time Factors; D018487:Ventricular Dysfunction, Left / Q000453:epidemiology* / Q000503:physiopathology / Q000601:surgery; D016277:Ventricular Function, Left