title: Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement.
abstract: OBJECTIVE
  Prevalence and clinical significance of right atrial enlargement (RAE) has been poorly characterized in hypertrophic cardiomyopathy.
  
  
  METHODS
  One hundred and sixty consecutive patients with hypertrophic cardiomyopathy (35.5 ± 20 years; 64% men) were studied. They underwent clinical examination, standard ECG, M-mode, 2D and Doppler echocardiography, stress test and ECG Holter monitoring. Major adverse cardiac events were considered: cardiac death (sudden death, heart failure death); cardiac transplant; resuscitated cardiac arrest or appropriate implantable cardioverter defibrillator discharge. Genetic analysis of eight sarcomeric genes was performed using Sanger sequencing.
  
  
  RESULTS
  RAE was observed in 22 patients (14%), associated with left atrial enlargement in all cases. Patients with RAE were likely to have restrictive mitral pattern (P < 0.001) and had higher New York Heart Association (P < 0.001), N-terminal prohormone of brain natriuretic peptide (P < 0.001), left atrial volume index (P < 0.001), lateral (P = 0.04) and septal (P = 0.002) E/e', systolic pulmonary artery pressure (P < 0.001) and lower ejection fraction (all P < 0.001). On cardiopulmonary exercise testing, peak VO2 was lower and VE/VCO2 higher in patients with RAE (P < 0.001). During a mean follow-up of 4 ± 2.1 years, 30 major adverse cardiac events in 24 patients (15%) were observed. Cox proportional hazards regression analysis identified RAE as an independent predictor of major adverse cardiac events (odds ratio = 2.6; confidence interval 1.5-4.6; P = 0.001). In patients with RAE who were genetically tested, there was a higher prevalence of sarcomeric gene mutations (68%), double mutations (16%) and troponin T mutations (21%).
  
  
  CONCLUSIONS
  RAE is present in a small subset of patients with hypertrophic cardiomyopathy, and largely reflects increased pulmonary pressures because of severe diastolic and/or systolic left ventricular dysfunction. Patients with RAE had a higher prevalence of sarcomeric gene mutations, troponin T mutations and complex genotypes. In conclusion, RAE may serve as a very useful marker of disease progression and adverse outcome in patients with sarcomeric hypertrophic cardiomyopathy.
authors.affiliation: aU.O.C. di Cardiologia, Seconda Università degli Studi di Napoli, A.O. Monadi, Azienda dei Colli bCEINGE-Biotecnologie Avanzate s.c.ar.l. cDipartimento di Biochimica e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples dUnità di 'Imaging Cardiovascolare', Ospedale Santa Maria delle Grazie, Pozzuoli eCardiology Division, Heart Department, 'Cava de' Tirreni and Amalfi Coast' Hospital, University of Salerno, Salerno fCardiac Surgery Department, IRCCS Policlinico San Donato, Milan, Italy gInherited Heart Disease Unit, The Heart Hospital, London, UK.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Limongelli
authors.forename: Daniele
authors.initials: D
authors.lastname: Masarone
authors.forename: Giulia
authors.initials: G
authors.lastname: Frisso
authors.forename: Maria
authors.initials: M
authors.lastname: Iacomino
authors.forename: Ilaria
authors.initials: I
authors.lastname: Ferrara
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rea
authors.forename: Rita
authors.initials: R
authors.lastname: Gravino
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bossone
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
authors.forename: Raffaele
authors.initials: R
authors.lastname: Calabro
authors.forename: Perry
authors.initials: P
authors.lastname: Elliott
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pacileo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D006332:Cardiomegaly / Q000000981:diagnostic imaging / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control; D017147:Defibrillators, Implantable; D015150:Echocardiography, Doppler; D004554:Electric Countershock / Q000295:instrumentation; D015716:Electrocardiography, Ambulatory; D005080:Exercise Test; D005260:Female; D020022:Genetic Predisposition to Disease; D006325:Heart Atria / Q000000981:diagnostic imaging; D016027:Heart Transplantation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D016016:Proportional Hazards Models; D012151:Resuscitation; D012307:Risk Factors; D016896:Treatment Outcome; D020107:Troponin T / Q000235:genetics*; D055815:Young Adult
chemical_list: D020107:Troponin T