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Case Report

Yamaguchi Apical Cardiomyopathy: A Rare Presentation of an Autosomal Dominant Cardiac Illness in a Young Patient

Medha Sharma, Kamal Preet Palta, Bibhash Roy

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Indian Journal of Emergency Medicine 11(1):p 37-39, Jan -April 2025. | DOI: https://doi.org/10.21088/ijem.2395.311X.11125.5

How Cite This Article:

Sharma M, Palta KP, Roy B. Yamaguchi apical cardiomyopathy: a rare presentation of an autosomal dominant cardiac illness in a young patient. Ind J Emerg Med. 2025;11(1):37-9.

Timeline

Received : August 02, 2024         Accepted : February 14, 2025          Published : April 20, 2025

Abstract

Yamaguchi apical cardiomyopathy, also known as Yamaguchi syndrome or apical hypertrophic cardiomyopathy, is a rare subtype of hypertrophic cardiomyopathy (HCM), which is itself a genetic cardiac disorder characterized by thickening of the heart muscle (myocardium). However, unlike the typical form of HCM where the thickening occurs primarily in the interventricular septum (the wall that separates the left and right ventricles), Yamaguchi apical cardiomyopathy predominantly affects the apex (tip) of the heart. The condition is autosomal dominant and presents with symptoms like chest pain, palpitations, dyspnea, syncope and other similar features of an acute coronary syndrome. Majority of mutations occur in genes encoding the sarcomere. The predominant gene mutations occur in “myosinbinding protein C (MYBPC3) and myosin heavy chain (MYH7). Here is a case of a 40-year-old male patient who presented to the emergency with complaints of chest heaviness and diaphoresis since the past one day. Patient had a similar complaint around 3 years back for which he underwent a coronary angiography and was found to have normal coronaries. On examination, patient had normal findings and including the primary and secondary survey. Patient’s ECG showed Deep T waves. In view of ECG findings, patient was shifted for a coronary angiography which showed normal epicardial coronaries. 2D echo showed an apical variant of HCM. Patient was discharged in a stable condition.

References

  • 1.   https://www.ncbi.nlm.nih.gov/pm c/ articles/PMC9337995/Cureus. 2022 Jun; 14(6): e26439. Published online 2022 Jun 29. doi: 10.7759/cureus.26439 Yamaguchi Syndrome: A Hidden Masquerader of Ischemic Heart Disease, Monitoring Editor: Alexander Muacevic and John R Adler.
  • 2.   https://practicingclinicians.com/theexchange/yamaguchi-syndrome The Xchange, March 5 2021.

Data Sharing Statement

There are no additional data available.

Funding

This research received no funding.

Author Contributions

All authors contributed significantly to the work and approve its publication.

Acknowledgements

Information not provided.

Conflicts of Interest

The authors report no conflicts of interest in this work.

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Cite this article

Sharma M, Palta KP, Roy B. Yamaguchi apical cardiomyopathy: a rare presentation of an autosomal dominant cardiac illness in a young patient. Ind J Emerg Med. 2025;11(1):37-9.

Licence:

Attribution-Non-commercial 4.0 International (CC BY-NC 4.0)

 This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for noncommercial purposes only, and only so long as attribution is given to the creator.

Received Accepted Published
August 02, 2024 February 14, 2025 April 20, 2025
DOI: https://doi.org/10.21088/ijem.2395.311X.11125.5

Keywords

CardiomyopathyGeneticApexMyosin

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Timeline

Received August 02, 2024
Accepted February 14, 2025
Published April 20, 2025

licence

Attribution-Non-commercial 4.0 International (CC BY-NC 4.0)

 This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for noncommercial purposes only, and only so long as attribution is given to the creator.


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