Diagnostic Ambiguity in Apical Hypertrophic Cardiomyopathy

Q4 Medicine

JACC. Case reports Pub Date : 2025-10-01 DOI:10.1016/j.jaccas.2025.105310

May Li-Jedras DO , Yasser Hegazy MD , Ali Bin Abdul Jabbar MD , Ahmed El-Shaer MD , Muhammed Ghallab MD , Amjad Kabach MD

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Abstract

Background

Apical hypertrophic cardiomyopathy (HCM) is a unique subtype of HCM characterized by predominant hypertrophy of the left ventricular apex. Due to its unique morphology, apical HCM often manifests with nonspecific symptoms, leading to a challenging diagnosis. Apical measurements on transthoracic echocardiography may be altered depending on the quality and technique with which the images were obtained; thus advanced imaging, such as cardiac magnetic resonance (CMR), may be needed to establish the diagnosis.

Case Summary

We present 2 cases in which patients presented with nonspecific symptoms and initial transthoracic echocardiography was inconclusive for apical HCM, requiring CMR to better visualize structural changes and establish the diagnosis.

Discussion

Apical HCM remains an elusive subtype of HCM given its variable presentation and subtle structural changes. Our cases highlight the significant advantage of CMR to better characterize structural changes that may be overlooked on standard echocardiography to help diagnose apical HCM.

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心尖肥厚性心肌病的诊断歧义

背景：心尖肥厚性心肌病（HCM）是一种独特的HCM亚型，以左心室心尖肥厚为主。由于其独特的形态，根尖HCM通常表现为非特异性症状，导致具有挑战性的诊断。经胸超声心动图的顶点测量可能会根据获得图像的质量和技术而改变；因此，可能需要先进的成像技术，如心脏磁共振（CMR）来确定诊断。我们报告了2例患者的非特异性症状和最初的经胸超声心动图对根尖HCM不确定，需要CMR更好地观察结构变化并建立诊断。根尖型HCM由于其多变的表现和微妙的结构变化，仍然是HCM的一个难以捉摸的亚型。我们的病例强调了CMR的显著优势，它可以更好地描述在标准超声心动图上可能被忽视的结构变化，以帮助诊断根尖HCM。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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