title: Early cardiac changes in children with anderson-fabry disease.
abstract: OBJECTIVE
  Limited evidence is available about the early cardiac manifestation of Fabry disease (FD) in children. We aimed to evaluate cardiac involvement in children with FD by analysing serial structural and electrocardiographic changes.
  
  
  METHODS
  The data were acquired from 22 children with FD [11 males; median age 9.8 (ranging 2.5-16) years]. Seven patients (5 males) were on enzyme replacement therapy (ERT) with Agalasidase alpha. Echocardiography, ECG and 24-h ECG monitoring recordings were acquired during routine annual clinical controls. ECG data were compared to a group of age-and gender-matched controls.
  
  
  RESULTS
  At baseline, ECG and ECHO parameters of left ventricular mass were similar in both males and females. Three boys (all were on ERT) developed left ventricular hypertrophy (LVH) during two-year follow-up. The progression to LVH was accompanied by the appearance of frequent ventricular premature beats in two cases and supraventricular premature beats (SPBs) with T wave inversion in one case. T wave inversion and SPBs were detected in two younger relatives of a patient with LVH, in the absence of detectable LVH. Seven out of 22 patients had T wave abnormalities. Five of them were males (p = 0.03) all carrying the N215S mutation (p = 0.03). At baseline, median PR intervals were prolonged in FD subjects compared to controls [143 (122-177) vs. 122 (82-165) ms; p < 0.0001].
  
  
  CONCLUSIONS
  Cardiac complications of FD become apparent in childhood as subtle changes with slow but detectable progression over time, with males more frequently affected than females. Progression of LVH was apparent in three children despite ERT.
authors.affiliation: Department of Medicine - Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors.forename: Stepan
authors.initials: S
authors.lastname: Havranek
authors.forename: Ales
authors.initials: A
authors.lastname: Linhart
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Urbanova
authors.forename: Uma
authors.initials: U
authors.lastname: Ramaswami
references.citation: Eur Heart J. 2010 Feb;31(3):347-53
references.pmid: 19850557
references.citation: Heart. 2005 Dec;91(12):1626-30
references.pmid: 16287757
references.citation: Eur J Pediatr. 2003 Nov;162(11):767-72
references.pmid: 14505049
references.citation: Am J Hum Genet. 1993 Dec;53(6):1186-97
references.pmid: 7504405
references.citation: Heart. 2011 Mar;97(6):485-90
references.pmid: 21270075
references.citation: J Am Coll Cardiol. 2011 Mar 1;57(9):1093-9
references.pmid: 21349401
references.citation: Br Heart J. 1980 Sep;44(3):304-8
references.pmid: 7426187
references.citation: Lancet. 2009 Dec 12;374(9706):1986-96
references.pmid: 19959221
references.citation: Heart. 2003 Aug;89(8):819-20
references.pmid: 12860841
references.citation: Acta Paediatr. 2008 Apr;97(4):463-9
references.pmid: 18363956
references.citation: Eur Heart J. 2001 Apr;22(8):702-11
references.pmid: 11286528
references.citation: J Am Soc Echocardiogr. 2011 Mar;24(3):229-67
references.pmid: 21338862
references.citation: Am Heart J. 2000 Jun;139(6):1101-8
references.pmid: 10827394
references.citation: JAMA. 2000 Dec 6;284(21):2771-5
references.pmid: 11105184
references.citation: J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403
references.pmid: 18154965
references.citation: Br Heart J. 1984 Feb;51(2):179-83
references.pmid: 6197983
references.citation: Am J Kidney Dis. 2008 May;51(5):767-76
references.pmid: 18436087
references.citation: Pacing Clin Electrophysiol. 2008 Jun;31(6):782-3
references.pmid: 18507557
references.citation: Dtsch Med Wochenschr. 2007 Jul 5;132(28-29):1505-9
references.pmid: 17607649
references.citation: J Am Coll Cardiol. 2002 Nov 6;40(9):1668-74
references.pmid: 12427421
references.citation: Europace. 2011 Dec;13(12):1781-8
references.pmid: 21856674
references.citation: Am J Cardiol. 2010 Mar 1;105(5):753-6
references.pmid: 20185028
references.citation: Europace. 2006 Dec;8(12):1045-7
references.pmid: 17098778
references.citation: Ann Intern Med. 2003 Feb 18;138(4):338-46
references.pmid: 12585833
references.citation: Am J Cardiol. 2005 Sep 15;96(6):842-6
references.pmid: 16169374
references.citation: Am J Hypertens. 2006 Aug;19(8):782-7
references.pmid: 16876675
references.citation: Int J Cardiol. 2008 Nov 28;130(3):367-73
references.pmid: 18572264
references.citation: Heart. 2006 Mar;92(3):357-60
references.pmid: 16085718
references.citation: Acta Paediatr Suppl. 2002;91(439):15-20
references.pmid: 12572837
references.citation: Heart. 2011 Dec;97(23):1957-60
references.pmid: 21890869
references.citation: Pediatr Cardiol. 2008 Sep;29(5):923-8
references.pmid: 18437446
references.citation: Circulation. 2009 Feb 3;119(4):524-9
references.pmid: 19153271
references.citation: Circulation. 2007 Sep 18;116(12):e350-1
references.pmid: 17875975
references.citation: Acta Paediatr. 2006 Jan;95(1):86-92
references.pmid: 16498740
references.citation: Am Heart J. 1977 Jun;93(6):699-705
references.pmid: 140598
references.citation: Eur Heart J. 2005 Jun;26(12):1221-7
references.pmid: 15728649
references.citation: J Am Soc Echocardiogr. 2009 Jun;22(6):709-14
references.pmid: 19423289
references.citation: Am J Emerg Med. 2008 Feb;26(2):221-8
references.pmid: 18272106
references.citation: Circulation. 2002 Mar 26;105(12):1407-11
references.pmid: 11914245
references.citation: Pediatrics. 2006 Sep;118(3):924-32
references.pmid: 16950982
references.citation: Am J Cardiol. 1986 Feb 15;57(6):450-8
references.pmid: 2936235
references.citation: Circulation. 2009 May 19;119(19):2561-7
references.pmid: 19414635
references.citation: Clin Genet. 2012 May;81(5):485-90
references.pmid: 21457233
references.citation: Am J Cardiol. 1994 Jul 15;74(2):203-4
references.pmid: 8023796
references.citation: Br Heart J. 1981 Mar;45(3):281-91
references.pmid: 7470341