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A Teenager With Palpitations

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A young man nearing the end of his second decade with no significant medical history presented to the emergency department with a 1-day history of intermittent palpitations and chest pain associated with shortness of breath. On presentation, the patient appeared anxious with a heart rate of 101 beats per minute, respiratory rate of 20 breaths per minute, blood pressure of 151/79 mm Hg, and pulse oximetry of 96% in room air. His cardiopulmonary examination results, complete blood cell count, basic metabolic panel, and cardiac troponins were all within normal limits. His electrocardiogram on presentation and echocardiogram are shown in Figure 1 and the Video.

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy

C. Cardiac magnetic resonance imaging

The key to diagnosis here is a history of palpitations in a young otherwise healthy patient, T wave inversions in leads V1 through V3, and severely dilated, dyskinetic right ventricle (RV) with trabeculations on echocardiogram. Timely recognition of this potentially fatal condition and further evaluation with cardiac magnetic resonance imaging is important to avoid unnecessary workup including catheterization or computed tomographic angiography.

With a prevalence of 1:5000, arrhythmogenic RV dysplasia/cardiomyopathy is a notable familial disorder that predominantly affects the RV and is one of the leading causes of arrhythmic cardiac arrest in young people and athletes.1,2 Typically inherited as an autosomal dominant disease, the genes encoding desmosomal proteins play a key role in its pathogenesis.3

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Article Information

Corresponding Author: Hitesh Raheja, MD, Maimonides Medical Center, 4802 10th Ave, Brooklyn, NY 11219 (hiteshraheja88@gmail.com).

Published Online: October 13, 2021. doi:10.1001/jamacardio.2021.4017

Conflict of Interest Disclosures: None reported.

References
1.
Corrado  D , Link  MS , Calkins  H .  Arrhythmogenic right ventricular cardiomyopathy.   N Engl J Med. 2017;376(1):61-72. doi:10.1056/NEJMra1509267PubMedGoogle ScholarCrossref
2.
Peters  S , Trümmel  M , Meyners  W .  Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital.   Int J Cardiol. 2004;97(3):499-501. doi:10.1016/j.ijcard.2003.10.037PubMedGoogle ScholarCrossref
3.
Awad  MM , Calkins  H , Judge  DP .  Mechanisms of disease.   Nat Clin Pract Cardiovasc Med. 2008;5(5):258-267. doi:10.1038/ncpcardio1182PubMedGoogle ScholarCrossref
4.
Marcus  FI , Fontaine  GH , Guiraudon  G ,  et al.  Right ventricular dysplasia.   Circulation. 1982;65(2):384-398. doi:10.1161/01.CIR.65.2.384PubMedGoogle ScholarCrossref
5.
Gandjbakhch  E , Redheuil  A , Pousset  F , Charron  P , Frank  R .  Clinical diagnosis, imaging, and genetics of arrhythmogenic right ventricular cardiomyopathy/dysplasia.   J Am Coll Cardiol. 2018;72(7):784-804. doi:10.1016/j.jacc.2018.05.065PubMedGoogle ScholarCrossref
6.
Marcus  FI , McKenna  WJ , Sherrill  D ,  et al.  Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia.   Circulation. 2010;121(13):1533-1541. doi:10.1161/CIRCULATIONAHA.108.840827PubMedGoogle ScholarCrossref
7.
Corrado  D , Wichter  T , Link  MS ,  et al.  Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia.   Eur Heart J. 2015;36(46):3227-3237. doi:10.1161/CIRCULATIONAHA.115.017944PubMedGoogle Scholar
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