Apical Hypertrophic Cardiomyopathy: Diagnostic Challenges in a Patient with Hypertension and Obstructive Sleep Apnea

  • Jordan Llerena-Velastegui
  • , Daniela Benitez-Gutierrez
  • , Diego Benitez-Zapata
  • , Camila Escobar-Andrade
  • , Daniela Corral-Hidalgo

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Objective: Rare disease Background: Apical hypertrophic cardiomyopathy (ApHCM) is an uncommon phenotype of hypertrophic cardiomyopathy (HCM) characterized by myocardial thickening predominantly affecting the left ventricular apex, typically without significant obstruction of the left ventricular outflow tract. This report describes a 53-year-old man with chronic hypertension and obstructive sleep apnea (OSA) in whom characteristic electrocardiographic (ECG) and cardiac magnetic resonance imaging (MRI) findings established ApHCM, highlighting practical implications for differential diagnosis and follow-up. Case Report: A 53-year-old male patient presented with exertional dyspnea (New York Heart Association class II) and recurrent pulsatile holocranial headaches. His medical history included longstanding hypertension managed with atenolol and enalapril, and untreated OSA. Family history revealed cardiovascular disease. Initial examination demonstrated stable vital signs, sinus rhythm, and giant deep precordial T-wave inversions on ECG. Echocardiography revealed significant concentric left ventricular hypertrophy, moderate diastolic dysfunction, and left atrial dilation. Cardiac MRI confirmed apical-predominant and inferoseptal hypertrophy (maximal thickness of 19 mm), “ace-of-spades” end-diastolic cavity configuration, absence of left ventricular outflow tract obstruction, and preserved systolic function, establishing the diagnosis of ApHCM. Medical management with atenolol resulted in clinical improvement, and genetic testing was discussed but not performed; phenotype-based family screening was initiated following genetic counseling. Conclusions: ApHCM should be considered in patients with dyspnea, hypertension, and OSA when giant precordial T-wave inversions are present. ECG and MRI confirming apical hypertrophy without outflow obstruction guide medical therapy, not septal reduction, and prioritize blood pressure optimization, OSA treatment, ambulatory rhythm monitoring, and structured follow-up to mitigate adverse outcomes.

    Original languageEnglish
    Article numbere950268
    JournalAmerican Journal of Case Reports
    Volume26
    DOIs
    StatePublished - 2025

    Keywords

    • Cardiomyopathies
    • Cardiomyopathy, Hypertrophic
    • Echocardiography
    • Magnetic Resonance Imaging
    • Sleep Apnea, Obstructive

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