title: N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations.
abstract: BACKGROUND
  Recently, concerns have been raised about a possible lack of sensitivity of biomarkers to detect left ventricular (LV) dysfunction in patients with myopathies. We examined the ability of the N-terminal brain natriuretic peptide (NT-proBNP) to detect LV or right ventricular (RV) dysfunction in patients with lamin A/C (LMNA) gene mutations.
  
  
  METHODS
  We prospectively measured plasma NT-proBNP in consecutive patients with documented LMNA mutations and age-sex matched controls. All patients underwent standard echocardiography implemented by pulsed tissue-Doppler echocardiography (TDE).
  
  
  RESULTS
  Twenty-three patients were included (10 males, mean age 39.2 ± 18.9 years);10 had previous atrial arrhythmias, 8 had been implanted with cardioverter defibrillator for primary prevention of sudden death, 5 patients were of NYHA class II and 18 of NHYA class I. Sinus rhythm was recorded in all. NT-proBNP was increased in LMNA patients versus controls (123 ± 229 versus 26 ± 78 pg/ml, p=0.0004); 7 patients had depressed LV and/or RV contractility. Patients with reduced LV or RV contractility had increased mean NT-proBNP (341 ± 1032 pg/ml versus 80 ± 79 pg/ml in patients with normal myocardial contractility, p=0.004). Receiver-operating-characteristics analysis shows that NT-proBNP reliably detected depressed contractility (area under the curve 0.889 [0.697-1.000]). Sensitivity and specificity were 88% and 83% respectively, applying manufacturer's recommended cut-off concentration of 125 pg/ml.
  
  
  CONCLUSIONS
  NT-proBNP reliably detected the presence of reduced LV/RV contractility in LMNA patients.
authors.affiliation: Université Paris Descartes, Département de Cardiologie, Hôpital Cochin, AP-HP, Paris, France. christophe.meune@cch.aphp.fr
authors.forename: Christophe
authors.initials: C
authors.lastname: Meune
authors.forename: Karim
authors.initials: K
authors.lastname: Wahbi
authors.forename: Camille
authors.initials: C
authors.lastname: Gobeaux
authors.forename: Denis
authors.initials: D
authors.lastname: Duboc
authors.forename: Françoise
authors.initials: F
authors.lastname: Pecker
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D002648:Child; D004247:DNA / Q000235:genetics*; D018618:Echocardiography, Doppler, Color; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009200:Myocardial Contraction / Q000235:genetics*; D020097:Natriuretic Peptide, Brain / Q000097:blood*; D010446:Peptide Fragments / Q000097:blood*; D011379:Prognosis; D011446:Prospective Studies; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D015415:Biomarkers; C494847:LMNA protein, human; D034904:Lamin Type A; D010446:Peptide Fragments; C109794:pro-brain natriuretic peptide (1-76); D020097:Natriuretic Peptide, Brain; D004247:DNA