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Apical Hypertrophic Cardiomyopathy: Diagnostic Challenges in a Patient with Hypertension and Obstructive Sleep Apnea
Jordan Llerena-Velastegui1,2,3, Daniela Benitez-Gutierrez4, Diego Benitez-Zapata5
1Department of Health Sciences, Center for Health Research in Latin America (CISeAL), Quito, Ecuador.
Insights
Apical hypertrophic cardiomyopathy (ApHCM) is diagnosed using ECG and MRI in patients with hypertension and sleep apnea. Early diagnosis and management of ApHCM are crucial for preventing adverse outcomes.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Apical hypertrophic cardiomyopathy (ApHCM) is a rare form of hypertrophic cardiomyopathy (HCM) affecting the left ventricular apex.
- It typically presents without significant left ventricular outflow tract obstruction.
- This case highlights ApHCM in a patient with hypertension and obstructive sleep apnea (OSA).
Purpose of the Study:
- To describe a case of ApHCM diagnosed via ECG and MRI.
- To emphasize the diagnostic implications and follow-up strategies for ApHCM.
- To discuss the management of ApHCM in patients with co-existing conditions.
Main Methods:
- Case report of a 53-year-old male with exertional dyspnea and headaches.
- Electrocardiography (ECG) revealed giant precordial T-wave inversions.
- Cardiac Magnetic Resonance Imaging (MRI) confirmed apical hypertrophy and characteristic cardiac morphology.
Main Results:
- Diagnosis of ApHCM established based on ECG and MRI findings.
- Patient experienced clinical improvement with atenolol.
- Phenotype-based family screening initiated following genetic counseling.
Conclusions:
- ApHCM should be suspected in patients with dyspnea, hypertension, and OSA, especially with giant precordial T-wave inversions.
- ECG and MRI are key for diagnosing ApHCM and guiding therapy.
- Management focuses on blood pressure control, OSA treatment, and regular monitoring.
Abstract:
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.
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