شناسایی بیماری فابری در یک گروه ارجاع سوم در بیماران مبتلا به کاردیومیوپاتی هیپرتروفی

These observations support consideration for routine prospective screening for Fabry disease in all patients without a definitive etiology for left ventriclar hypertrophy. This strategy would likely result, through cascade family testing, in the earlier identification of new Fabry disease–affected males and female heterozygotes who may benefit from monitoring and/or enzyme replacement therapy.