Heterogeneity and Detection Rate of Hypertrophic Cardiomyopathy Phenotype in China: A Multicenter Echocardiography Study

Q: What are the key findings of this study?

Among 655,383 echocardiographic examinations in major Chinese centers, the clinical detection rate of the hypertrophic cardiomyopathy phenotype was 0.40% (approximately 1 in 250).

Q: What is the clinical evidence from this study?

Study design: Cross-Sectional. Population: Hypertrophic cardiomyopathy (HCM) phenotype (n=655383). Intervention: Hypertrophic cardiomyopathy phenotype. Primary outcome: Detection rate of the HCM phenotype.

Q: What does this research mean for the field?

The clinical detection rate of the hypertrophic cardiomyopathy phenotype in major Chinese healthcare settings is 0.40% (approximately 1 in 250), exhibiting substantial phenotypic heterogeneity and a significantly higher rate of left ventricular outflow tract obstruction in females. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

Beining Wang; Bei Wang; Hui Sun; Mengyun Zhu; Fengjuan Yao; W Lu; Shun Wang; Jun Wang; Yunqi Shi; Mingxing Xie; Ying Yang; Wei Ma

doi:10.3390/jcm15166230

August 12, 2026Journal of Clinical MedicineOpen Access

Heterogeneity and Detection Rate of Hypertrophic Cardiomyopathy Phenotype in China: A Multicenter Echocardiography Study

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Key result

Echocardiography detects the HCM phenotype in ~0.4% of patients in clinical practice.

n=655,383

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Why the study?

Contemporary data on the clinical detection rate and profile of phenotypical hypertrophic cardiomyopathy in major Chinese healthcare settings are limited.

Key Points

To determine the clinical detection rate and characterize the echocardiographic features of the hypertrophic cardiomyopathy phenotype across adult patients in China.
Analyzed echocardiography databases across nine medical centers in China from 1 January 2023 to 31 December 2023 (N=655,383 examinations) for adult patients aged ≥18 years.
Defined hypertrophic cardiomyopathy phenotype as left ventricular end-diastolic wall thickness ≥15 mm, while excluding patients with moderate to severe aortic stenosis.
Classified subcategories including asymmetric septal hypertrophy, obstructive phenotypes, and pure or mixed apical hypertrophy.
A total of 2610 patients met the criteria for the hypertrophic cardiomyopathy phenotype, representing a detection rate of 0.40% (≈1 in 250), with a mean age of 60.2 years and 70.3% male predominance.
Asymmetric septal hypertrophy was present in 53.3% of cases, with maximal wall thickness most often at the interventricular septum (57.6%), apex (20.9%), and basal septum (17.7%), while pure apical hypertrophy occurred in 4.5%.
Left ventricular outflow tract obstruction occurred in 12.1% of patients (overall intra-left ventricular obstruction was 16.2%), and female patients demonstrated significantly higher rates of outflow tract obstruction than males (18.2% vs. 9.6%, p < 0.001).

Study Design

Type

Cross-Sectional (n=655,383)

Multicenter

Yes

Structured PICO

P

Population

2,610 adult patients with an echocardiographically defined hypertrophic cardiomyopathy phenotype, identified from 655,383 examinations across nine major Chinese medical centers in 2023.

O

Outcome

Detection rate of the echocardiographically defined hypertrophic cardiomyopathy phenotype (HCM phenotype) within the cohort during the year 2023surrogate

The clinical detection rate of the HCM phenotype in major Chinese centers is approximately 1 in 250, supporting contemporary estimates that the disease is more common than historically recognized.

Limitations

Selection bias due to the use of echocardiography databases from large referral centers, limiting generalizability to the general population.
Inability to definitively rule out HCM phenocopies (e.g., hypertensive cardiac hypertrophy, Anderson-Fabry disease, cardiac amyloidosis) due to lack of clinical data.
Strict morphological criteria (≥15 mm) may have excluded patients with mild or borderline wall thickness.
Underestimation of latent left ventricular outflow tract obstruction due to low utilization of stress testing (14.3%).
Selection bias due to the use of echocardiography databases from large medical institutions (referral centers), limiting generalizability to the general Chinese population.
Inability to definitively rule out phenocopies (e.g., hypertensive cardiac hypertrophy, Anderson-Fabry disease, cardiac amyloidosis) due to the lack of detailed clinical data.
Exclusion of patients with mild morphological expressions of the disease and borderline wall thickness (13-14 mm) due to strict morphological criteria.
Underestimation of latent left ventricular outflow tract obstruction (LVOTO) because stress tests were performed on only 14.3% of patients.

Implication

Supports 0.4% HCM detection in Chinese echo labs; extends prevalence data but leaves open need for prospective validation.

Abstract

Background: Contemporary data on the clinical detection rate and profile of phenotypical hypertrophic cardiomyopathy (HCM) in major Chinese healthcare settings are limited. This multicenter study aimed to determine the detection rate and echocardiographic features of the HCM phenotype in a large Chinese cohort. Methods: This cross-sectional study analyzed echocardiography databases from nine medical centers across China, including adult patients examined during 2023. HCM phenotype was defined as end-diastolic wall thickness ≥15 mm in the left ventricle. Patients with moderate to severe aortic stenosis were excluded. Subcategories included phenotypes of obstructive HCM and apical hypertrophy. Results: Among 655,383 examinations, 2610 patients met the criteria of the HCM phenotype, yielding a detection rate of 0.40% (≈1 in 250). The mean age was 60.2 years with male predominance (70.3%). Asymmetric septal hypertrophy was present in 53.3% of patients. The most commonly involved site with maximal wall thickness was the interventricular septum (57.6%), followed by the apex (20.9%) and the basal septum (17.7%). The overall intra-left ventricular obstruction rate was 16.2%; left ventricular outflow tract obstruction (LVOTO) accounted for 12.1%. LVOTO patients had greater septal thickness, smaller left ventricular diastolic dimensions, and more mitral regurgitation. Female sex was associated with a significantly higher LVOTO rate than males (18.2% vs. 9.6%, p < 0.001). Pure apical hypertrophy was identified in 4.5% of patients, with an increasing detection rate in older age groups. Conclusions: This large-scale, multicenter study confirms a high clinical detection rate for the HCM phenotype (≈1 in 250) in major Chinese centers. Substantial phenotypic heterogeneity across age and sex, coupled with the identification of key factors associated with LVOTO, highlights the need for sex- and age-specific diagnostic strategies and therapeutic planning in clinical practice.

Discussion

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Cite This Study

Wang et al. (2026) conducted a cross-sectional in Hypertrophic cardiomyopathy (HCM) phenotype (n=655,383). Hypertrophic cardiomyopathy phenotype was evaluated on Detection rate of the HCM phenotype. Among 655,383 echocardiographic examinations in major Chinese centers, the clinical detection rate of the hypertrophic cardiomyopathy phenotype was 0.40% (approximately 1 in 250).

synapsesocial.com/papers/6a7ec79cb70b84ec8b91408d https://doi.org/10.3390/jcm15166230

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Heterogeneity and Detection Rate of Hypertrophic Cardiomyopathy Phenotype in China: A Multicenter Echocardiography Study

Figures

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

Heterogeneity and Detection Rate of Hypertrophic Cardiomyopathy Phenotype in China: A Multicenter Echocardiography Study

Figures

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

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