Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy
| Autor: | Yang Sun, Ya-Xin Liu, Wei-Xian Yang, Ran-Xu Zhao, Chaoxia Lu, Tao Tian, Lin-Ping Wang, Ying Zhang, Yan Xiao, Xianliang Zhou, Tian-Jie Wang |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Proband China medicine.medical_specialty Adolescent 030204 cardiovascular system & hematology Electrocardiography Young Adult 03 medical and health sciences 0302 clinical medicine Right ventricular hypertrophy Ventricular hypertrophy Internal medicine Migalastat Prevalence medicine Humans cardiovascular diseases 030212 general & internal medicine Aged Aged 80 and over medicine.diagnostic_test business.industry Hypertrophic cardiomyopathy General Medicine Cardiomyopathy Hypertrophic Middle Aged medicine.disease Fabry disease Septal myectomy Pedigree Echocardiography cardiovascular system Cardiology Fabry Disease Female business Follow-Up Studies |
| Zdroj: | The American Journal of the Medical Sciences. 362:260-267 |
| ISSN: | 0002-9629 |
| Popis: | Background The prevalence of Fabry disease (FD) in Chinese patients with hypertrophic cardiomyopathy (HCM) is unclear. We aimed to evaluate the prevalence, clinical characteristics, and outcomes of FD in Chinese patients with HCM. Methods Of 217 patients with HCM, FD probands were screened by next-generation sequencing at Fuwai Hospital. Medical data from α-galactosidase A activity, electrocardiography, echocardiography, coronary angiography, cardiac magnetic resonance, pathological examination, and follow up was analyzed. Results Two FD probands were observed (0.93% of patients with HCM), both of which were diagnosed with symptomatic obstructive HCM at 49 years of age. One proband had a GLA mutation (c.887T>C [p.M296T]) with a late-onset cardiac variant, which was characterized by dual ventricular hypertrophy and conduction disease with a permanent pacemaker. The other patient had a GLA mutation (c.758T>C [p.I253T]) with a classic phenotype and dual ventricular hypertrophy, atrioventricular block, renal failure, and recurrent cerebral infarction. Both probands had late gadolinium enhancement mainly in the basal segment of the inferolateral wall. Follow up revealed no exertional symptoms or outflow obstruction after surgical septal myectomy in the two probands, and stable renal function was observed after 6 months of migalastat therapy in the later one. A family study revealed six female carriers and three sudden cardiac deaths. Conclusions FD is not uncommon in Chinese patients with HCM. Multiple organic involvement, dual ventricular hypertrophy, and conduction disease provide clinical clues for suspected FD, and early genetic screening is necessary. Surgical septal myectomy and migalastat improve the long-term prognosis of patients with FD. |
| Databáze: | OpenAIRE |
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