Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)
Language English Country United States Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- alpha-Galactosidase metabolism MeSH
- Adult MeSH
- Fabry Disease complications epidemiology MeSH
- Ventricular Function, Left MeSH
- Hypertrophy, Left Ventricular etiology MeSH
- Cardiomyopathies etiology MeSH
- Middle Aged MeSH
- Humans MeSH
- Prevalence MeSH
- Prospective Studies MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- alpha-Galactosidase MeSH
BACKGROUND: A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospective screening study evaluating the prevalence of FD in male patients older than 30 years with strictly defined unexplained LVH followed by general cardiologists. METHODS: A predefined number of 100 men with unexplained LVH, defined as maximal wall thickness ≥ 13 mm, were identified during an echocardiographic examination in primary cardiology practice and screened by assessing α-galactosidase A activity in dried blood spots (DBS) or in plasma. RESULTS: Four men (52 ± 4 years, maximal LV wall thickness 18 ± 3 mm) were diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis. Mild extracardiac manifestations of FD were present in two of them. CONCLUSIONS: The prevalence of FD in our cohort of male patients followed in primary cardiology practice with strictly defined otherwise unexplained LVH was 4 %. We recommend systematic screening for FD in all men older than 30 years with LVH of unknown etiology even in the absence of obvious extracardiac manifestations of FD.
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N Engl J Med. 2005 Jan 27;352(4):362-72 PubMed
Clin Chim Acta. 1981 May 5;112(2):247-51 PubMed
N Engl J Med. 1967 May 25;276(21):1163-7 PubMed
Nat Methods. 2010 Aug;7(8):575-6 PubMed
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Heart. 2003 Aug;89(8):929-30 PubMed
Heart. 2011 Dec;97(23):1957-60 PubMed
Eur Heart J. 2007 May;28(10):1228-35 PubMed
N Engl J Med. 1995 Aug 3;333(5):288-93 PubMed
Clin Chim Acta. 2001 Jun;308(1-2):195-6 PubMed
J Inherit Metab Dis. 2001;24 Suppl 2:75-83; discussion 65 PubMed
Hum Mol Genet. 1993 Jul;2(7):1051-3 PubMed
Am Heart J. 2000 Jun;139(6):1101-8 PubMed
J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403 PubMed
Cas Lek Cesk. 1990 Mar 23;129(12):369-72 PubMed
Ann Intern Med. 2007 Jan 16;146(2):77-86 PubMed
J Inherit Metab Dis. 2007 Aug;30(4):614 PubMed
J Med Genet. 2009 Aug;46(8):548-52 PubMed
J Am Soc Nephrol. 2004 May;15(5):1323-9 PubMed
Heart. 2007 Apr;93(4):528-35 PubMed
Nephrol Dial Transplant. 2007 Jan;22(1):179-86 PubMed
Genet Med. 2006 Sep;8(9):539-48 PubMed
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Circulation. 1995 Aug 15;92(4):785-9 PubMed
Int J Cardiol. 2008 Nov 28;130(3):367-73 PubMed
Circulation. 2004 Aug 31;110(9):1047-53 PubMed
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