Case Presentation:
Ms. L. is a 19‐year‐old with history of asthma who presented with persistent right scapula pain and intermittent left chest pain for 2 weeks without an inciting event. She had had chest pain in the past, 8 months prior to admission, at which time blood work and electro‐cardiography (EKG) were normal, and the pain was believed to be musculoskeletal. Regarding the pains, there was no associated radiation, diaphoresis, or nausea/vomiting, nor was there an association with exertion, meals, position, or sleep/wake status. She denied urinary tract infection symptoms, fevers, chills, cough, or shortness of breath. The night prior to admission, she could not fall asleep because of worsening pain and came into the emergency department. On arrival, the patient's vital signs were stable. Pulmonary embolism (PE) CT was unremarkable. Initial cardiac enzymes were negative. However, EKG showed new T‐wave inversions in the anterior leads (V1–V4) as well as lead III. She received ASA 325 mg and morphine 4 mg intravenously with significant improvement in her pain. Erythrocyte sedimentation rate and C‐reactive protein were low, making pericarditis/myocarditis unlikely. Repeat EKG still had T‐wave inversions. A transthoracic echocardiogram (TTE) revealed a structurally normal heart. Although there was low suspicion for ACS, the patient was ruled out for a myocardial infarction. Cardiology was consulted regarding the etiology of the patient's EKG changes. They believed a persistent juvenile pattern of T‐wave inversions was unlikely and recommended cardiac MR to evaluate for arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/C), though it was thought that the patient's symptoms would not be explained by this diagnosis. MR showed mild hypokinesis of the right ventricle (RF) wall, more prominent at the apex. There was low borderline ejection of the RV without evidence of delayed enhancement or fat content in the RV. The right‐sided chamber dimensions on her MRI did not fulfill criteria. Event monitoring was without evidence of ventricular arrhythmias. Thus far, the patient met 1 major revised criteria (precordial repolarization abnormalities on EKG) for ARVD/C. Signal‐averaged electrocardiogram to evaluate another potential diagnostic criteria is pending.
Discussion:
ARVD/C is a disorder characterized by fibrofatty replacement of the right ventricle because of desmosomal defects with onset during adolescence. Diagnostic criteria include family history, EKG, arrhythmias, functional and structural findings on TTE or imaging. Genetic testing may be considered as well. There is, however, low penetrance, clinical variability, and the presence of an autosomal recessive form of the disease. If criteria are met, patients should be referred to EP for consideration for implantable cardiac defibrillator (ICD) placement to protect against ventricular arrhythmias.
Conclusions:
ARVD/C is a diagnosis that should be considered in a young patient presenting with repolarization abnormalities on EKG. A positive family history is often present, but not required. In patients with the diagnosis, ICD placement should be considered to protect against sudden cardiac death. Periodic screening of first‐degree relatives is recommended as well.
Disclosures:
J. G. Dastidar ‐ none