Patient: Female, 53Final Diagnosis: Apical hypertrophic cardiomyopathySymptoms: Chest pain • dizziness • palpitationsMedication: —Clinical Procedure: —Specialty: CardiologyObjective:Rare diseaseBackground:Apical hypertrophic cardiomyopathy (ApHCM) is a relatively rare form of hypertrophic cardiomyopathy that predominantly affects the apex of the left ventricle and typically has a nonobstructive physiology. Its variable presentation and clinical course render ApHCM a commonly delayed or missed diagnosis.Case Report:A 53-year-old Caucasian woman presented with chronic progressive chest pain. She was initially started on treatment for acute coronary syndrome. Diagnosis of ApHCM was initially missed on echocardiography, but made on subsequent cardiac catheterization and cardiac MRI. She improved clinically with metoprolol, had a work-up for implantable cardioverter-defibrillator placement, and was referred for genetic testing.Conclusions:Despite earlier studies suggesting a more benign clinical course of ApHCM, recent studies report increased morbidity and mortality, which is comparable to the prognosis of other variants of hypertrophic cardiomyopathy such as hypertrophic obstructive cardiomyopathy. Thus, when formulating a differential diagnosis for chest pain, it is important to include structural heart disease including apical and other variants of hypertrophic cardiomyopathy as part of that differential, as appropriate management can prevent these devastating sequelae. Furthermore, when screening tests such as echocardiography cannot adequately establish the diagnosis of ApHCM, then cardiac MRI or invasive hemodynamic testing is necessary to establish or refute the diagnosis.
Brugada syndrome (BrS) is an inherited sodium channelopathy, which can precipitate malignant ventricular arrhythmias and sudden cardiac death. This is a 43-year-old male who presented with ventricular fibrillation cardiac arrest induced by cannabis in the setting of previously undiagnosed BrS. With the increasing prevalence of cannabis use, it is necessary to be aware of its potential adverse cardiovascular effects. This case highlights the diagnostic and clinical challenge of BrS and a raises the issue of cannabis as a potential provoking agent of malignant arrhythmias in BrS.
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