Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults

Zou, Yubao; Song, Lingyun; Wang, Zhimin; Ma, Aiqun; Liu, Tangwei; Gu, Huimin; Lu, Sailan; Peng-zhu, WU; Zhang, Ying; Shen, Li; Cai, Yuling; Zhen, Yang; Liu, Yanling; Hui, Rutai

doi:10.1016/j.amjmed.2003.05.009

Cited by 238 publications

(142 citation statements)

References 19 publications

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“…With an estimated prevalence in the general population of approximately 1:500, there are potentially over one million patients with HCM in China alone (3). Genetic screening is a necessary tool for a definite diagnosis of HCM, particularly in subjects with atypical or borderline phenotypic expression (4).…”

Section: Introductionmentioning

confidence: 99%

Mutation of V896M in cardiac myosin binding protein-c gene in two Chinese families with hypertrophic cardiomyopathy

et al. 2010

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Abstract. To investigate the genotype-phenotype correlation in chinese familial and sporadic hypertrophic cardiomyopathy, specific exons of the myosin binding protein-c gene (MYBPC3) were screened in six families with hypertrophic cardiomyopathy (HCM; FHCM) and in 20 patients with sporadic HCM (SHCM) from the anhui Province region of china. The V896M mutation was detected for the first time in China in two families with FHCM. The mutation was not found in 100 healthy control subjects. No mutations of MYBPC3 were detected in any of the SHCM patients. In contrast to previous reports, the V896M mutation may be a disease-causing mutation in China, and exon 27 of MYBPC3 may be a mutational hotspot in FHCM patients. However, mutations of MYBPC3 were not prevalent among SHCM patients.

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Section: Introductionmentioning

confidence: 99%

Mutation of V896M in cardiac myosin binding protein-c gene in two Chinese families with hypertrophic cardiomyopathy

et al. 2010

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“…Based on 7 studies, 1,19,24,25,[27][28][29] HCM phenotypic (ECG-or ECHO-based) prevalence ranged from 0 to 170 per 100 000 (Fig 2) with a summary phenotypic prevalence rate of 45 per 100 000 (95% CI: 10-79) but with substantial variation between studies (I 2 = 91%, P , .001). Inclusion of the study with a phenotypic prevalence estimate of zero 29 helped inform the upper bounds of the estimate.…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

“…Inclusion of the study with a phenotypic prevalence estimate of zero 29 helped inform the upper bounds of the estimate. Although 1 study 27 did not specify diagnostic criteria, we included it because its exclusion had no effect on phenotypic prevalence (remained at 45 per 100 000) and this study was based on a well-established screening program in Japan.…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

“…In the 11 primary studies 1,19,[23][24][25][26][27][28][29][30][31] that reported phenotypic (ECG-or ECHObased) prevalence findings, study populations ranged from general to subgroups of high school athletes and military conscripts. Studies were conducted in North America, Europe, and Asia and had sample sizes ranging from 1369 to 1 336 377 (Table 1).…”

Section: Characteristics Of Reviewed Studiesmentioning

confidence: 99%

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Electrocardiogram Screening for Disorders That Cause Sudden Cardiac Death in Asymptomatic Children: A Meta-analysis

et al. 2012

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BACKGROUND AND OBJECTIVES: Pediatric sudden cardiac death (SCD) occurs in an estimated 0.8 to 6.2 per 100 000 children annually. Screening for cardiac disorders causing SCD in asymptomatic children has public appeal because of its apparent potential to avert tragedy; however, performance of the electrocardiogram (ECG) as a screening tool is unknown. We estimated (1) phenotypic (ECG-or echocardiogram [ECHO]-based) prevalence of selected pediatric disorders associated with SCD, and (2) sensitivity, specificity, and predictive value of ECG, alone or with ECHO. METHODS:We systematically reviewed literature on hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), and Wolff-ParkinsonWhite syndrome, the 3 most common disorders associated with SCD and detectable by ECG. RESULTS:We identified and screened 6954 abstracts, yielding 396 articles, and extracted data from 30. Summary phenotypic prevalences per 100 000 asymptomatic children were 45 (95% confidence interval [CI]: 10-79) for HCM, 7 (95% CI: 0-14) for LQTS, and 136 (95% CI: 55-218) for Wolff-Parkinson-White. The areas under the receiver operating characteristic curves for ECG were 0.91 for detecting HCM and 0.92 for LQTS. The negative predictive value of detecting either HCM or LQTS by using ECG was high; however, the positive predictive value varied by different sensitivity and specificity cut-points and the true prevalence of the conditions. CONCLUSIONS:Results provide an evidence base for evaluating pediatric screening for these disorders. ECG, alone or with ECHO, was a sensitive test for mass screening and negative predictive value was high, but positive predictive value and false-positive rates varied.

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“…HCM is a relatively common genetic disease affecting at least 1 in 500 persons in the general population (32,000 persons in the Netherlands), [1][2][3][4][5] which is comparable to the prevalence of familial hypercholesterolaemia (FH). 6 HCM is inherited in an autosomal dominant mode, which implies that 50% of first-degree relatives carry the disease-causing mutation.…”

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confidence: 99%

ESCAPE-HCM study: Evaluation of SCreening of Asymptomatic PatiEnts with Hypertrophic CardioMyopathy

Christiaans

Dijksman

Birnie

2007

NHJL

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The ESCAPE-HCM study is a prospective followup study of asymptomatic mutation-carrying relatives of HCM patients aiming at optimising anamnestic and cardiological evaluation and surveillance for this group. All relatives undergo regular cardiological evaluation and risk status is prospectively estimated, according to known HCM-related risk factors for sudden cardiac death. (Neth Heart J 2007;15:216-20.)

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Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults

Cited by 238 publications

References 19 publications

Mutation of V896M in cardiac myosin binding protein-c gene in two Chinese families with hypertrophic cardiomyopathy

Mutation of V896M in cardiac myosin binding protein-c gene in two Chinese families with hypertrophic cardiomyopathy

Electrocardiogram Screening for Disorders That Cause Sudden Cardiac Death in Asymptomatic Children: A Meta-analysis

ESCAPE-HCM study: Evaluation of SCreening of Asymptomatic PatiEnts with Hypertrophic CardioMyopathy

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