Prevalence of Fabry Disease in Chinese Patients with Hypertrophic CardiomyopathyEnglish Full Text
ZHAO Xin-tao;CHEN Yi;FENG Xin-xing;SONG Ying;WANG Yi-lu;ZOU Yu-bao;WANG Ji-zheng;HUI Ru-tai;SHAO Yi-bing;SONG Lei;WANG Xu;Department of Cardiology,Qingdao Municipal Hospital of Qingdao University Medical College;State Key Laboratory of Cardiovascular Disease,Fuwai Hospital,National Center for Cardiovascular Disease,Chinese,Academy ofMedical Sciences and Peking Union Medical College;
Abstract: Objective: To determine the prevalence and clinical manifestations of α-galactosidase A（GLA）mutations in chinese patients with hypertrophic cardiomyopathy（HCM）. Methods: GLA gene was sequenced in 439 patients with HCM and 156 healthy controls. Genotype and phenotype correlation was analyzed in patients with GLA mutations. Results: A total of 2 pathogenic mutations in GLA gene, including 1 splicing（c.547+1G＞C） and 1 missense（E66Q）, was identified in 2（0.45%） of 439 patients with HCM. All these mutations were lack in 156 healthy controls and not reported in either 1000 Genomes or Exome Sequencing Project. Bioinformatics analysis showed these mutations had damaging effect on GLA protein or destroyed the existing splicing site. E66Q were known mutations,whereas c.547+1G＞C were novel. No mutation in sarcomere genes was identified in the 2 patients with GLA mutations, indicating these mutations of GLA were independent causes of cardiac hypertrophy. One neutral rare variant（V256A） was also detected in 1 female patient, who also carried a R671C mutation in MYH7. Various clinical manifestations were expressed in patients with GLA mutations, including, dyspnea in 1 patients, chest pain in 2 patients. The maximum left ventricle wall thickness was 15mm and 25mm. Resting obstruction of left ventricular outflow tract were observed in 1 patiets. Thus, the clinical manifestations of patients with GLA mutation were not distinct from the typical HCM. Conclusions: The prevalence of fabry disease in Chinese patients with HCM was 0.45%. Genetic testing is helpful in differentiation of the two diseases.
- DOI：
10.13241/j.cnki.pmb.2014.11.002
- Series：
- Subject：
- Classification Code：
R542.2
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