Atypical echocardiographic phenotype of end-stage hypertrophic cardiomyopathy: a case series
- 1Department of Ultrasonography, Sixth Medical Center of PLA General Hospital , ,
- 2Department of Cardiology, Sixth Medical Center of PLA General Hospital , ,
- 3Department of Radiology, Sixth Medical Center of PLA General Hospital , ,
Abstract
We fully documented the diagnostic process of three hypertrophic cardiomyopathy (HCM) cases without typical asymmetric myocardial hypertrophy, including medical histories, imaging, and laboratory tests, ultimately confirming the diagnosis through genetic testing. Case 1 presented with segmental wall motion abnormalities with thrombosis, requiring differentiation from coronary atherosclerotic heart disease; case 2 presented with restrictive hemodynamic changes that could be confused with restrictive cardiomyopathy such as amyloidosis; case 3 occurred in a pediatric setting and showed diffuse and concentric hypertrophy similar to metabolic disorders. Various imaging examinations were employed for differential diagnosis, and whole-exome sequencing identified a pathogenic MYBPC3 mutation in case 1 and pathogenic MYH7 mutations in cases 2 and 3, including a de novo variant in case 3. We provided appropriate treatment and follow-up for each case. Case 1's left ventricular ejection fraction increased to 48%, and cases 2 and 3 have not experienced worsening heart failure or malignant arrhythmic events based on an optimized drug regimen. This case series confirms the diversity of echocardiographic phenotypes in end-stage HCM, underscoring the role of multimodal imaging and genetic testing in diagnosis and differential diagnosis.
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BibTeX
@article{wang2026atypical,
title = {{Atypical echocardiographic phenotype of end-stage hypertrophic cardiomyopathy: a case series}},
author = {Xi Wang and Qiuying Liu and Li Zhao and Menglu Li},
journal = {Frontiers in cardiovascular medicine},
year = {2026},
month = oct,
doi = {10.3389/fcvm.2026.1907550},
url = {https://europepmc.org/article/PMC/PMC13690755},
note = {CC BY},
}
RIS
TY - JOUR
TI - Atypical echocardiographic phenotype of end-stage hypertrophic cardiomyopathy: a case series
AU - Xi Wang
AU - Qiuying Liu
AU - Li Zhao
AU - Menglu Li
PY - 2026
DA - 2026/10/09
JO - Frontiers in cardiovascular medicine
DO - 10.3389/fcvm.2026.1907550
UR - https://europepmc.org/article/PMC/PMC13690755
AB - We fully documented the diagnostic process of three hypertrophic cardiomyopathy (HCM) cases without typical asymmetric myocardial hypertrophy, including medical histories, imaging, and laboratory tests, ultimately confirming the diagnosis through genetic testing. Case 1 presented with segmental wall motion abnormalities with thrombosis, requiring differentiation from coronary atherosclerotic heart disease; case 2 presented with restrictive hemodynamic changes that could be confused with restrictive cardiomyopathy such as amyloidosis; case 3 occurred in a pediatric setting and showed diffuse and concentric hypertrophy similar to metabolic disorders. Various imaging examinations were employed for differential diagnosis, and whole-exome sequencing identified a pathogenic MYBPC3 mutation in case 1 and pathogenic MYH7 mutations in cases 2 and 3, including a de novo variant in case 3. We provided appropriate treatment and follow-up for each case. Case 1's left ventricular ejection fraction increased to 48%, and cases 2 and 3 have not experienced worsening heart failure or malignant arrhythmic events based on an optimized drug regimen. This case series confirms the diversity of echocardiographic phenotypes in end-stage HCM, underscoring the role of multimodal imaging and genetic testing in diagnosis and differential diagnosis.
SN - 2297-055X
ER -