摘要
目的结合伴高血压肥厚型心肌病(HCM)家系的基因多态性检测及散发病例的临床特点分析,初步探讨其发病机制。方法对家系成员进行候选基因(ACE、NPPA、MTPN、MYBPC3、MYH7)测序筛查及病例对照分析;通过病史采集、家系调查、心脏彩超、心电图检查对散发病例的临床特点进行分组比较。结果在家系先证者及其他罹患成员中发现与心肌肥厚表型相关的NPPArs5063位点多态性,导致其编码产物中血管扩张素相关肽(cardiodilatinrelatedpeptide)段的第7位氨基酸由缬氨酸(V)转换为甲硫氨酸(M)。散发病例的分组比较提示伴高血压的HCM的心脏彩超特点呈对称型或非对称性心肌肥厚伴左室腔缩小、左房扩大、LVEF增强及顺应性下降的舒张功能障碍;对比其中7例患者1年前后心超参数提示IVS、LVPW及LVMI均明显升高(P<0.05)。结论伴高血压的HCM可能与遗传缺陷诱发心肌肥厚及影响心脏舒张功能有关,高血压可能作为促发因素引起心肌肥厚进行性加重。
Objective To investigate the mechanism of hypertrophic myopathy complicated with hypertension, by combinated analysis of clinical features of sporadic patients and genotyping of suspected genes in one pedigree. Methods Genotyping and comparison of 5 suspected genes including angiotensin converting enzyme （ACE）, natriuretic peptide precursor A （NPPA）, myosin, heavy polypeptide 7, cardiac muscle, beta （MYH7）, myotrophin （MTPN）, cardiac myosinbinding protein C3 （MYBPC3） were performed in one pedigree with hypertrophic cardiomyopathy complicated with hypertension; The clineal features of sporadic patients were compared through collection of medical history, Doppler echocardiography and electric cardiography （ECG）. Results The heterozygous genotype of NPPA rs5063, which causes the code transformation of encoded eardiodilatin related peptide at 7th amine acid from valine （V） to methionine （M）, were exclusively found in the proband and sicked members in the pedigree rather than unaffected members. Doppler eehocardiography showed the symmetrical or unsymmetrical hypertrophy, acommanying with regression of left ventricle chamber, enlarging of left atrial chember, enhancement of LVEF, and decreased compliance of the diastolic dysfunction in sporadic patients. The parameter of IVS, LVPW and LVMI were significantly increased （P〈0.05） in 7 patients one year later. Conclusions The genetic defects may be associated with hypertrophic cardiomyopathy accompanying with hypertension via induction of hypertrophic growth or effect on diastolic function, while hypertension may aggravate this process.
出处
《中国热带医学》
CAS
2010年第3期342-344,共3页
China Tropical Medicine
基金
深圳市南山区卫生科技计划项目(2006017)
关键词
高血压
肥厚型心肌病
家系
基因多态性
心脏彩超
Hypertension
Hypertrophic cardiomyopathy
Pedigre
Single nucleotide polymorphism
Doppler echocardiography.
