Quick Fire Cases
Mobeen Z. Haider, MD
Advanced Cardiac Imaging Fellow
West Virginia Unviersity
Mobeen Z. Haider, MD
Advanced Cardiac Imaging Fellow
West Virginia Unviersity
Ruby Havistin, MD
Advanced Cardiac Imaging Fellow
West Virginia University
Sudharshan Balla, MD
Associate Professor of Cardiology
West Virginia University
Daniel Brito-Guzman, MD
Cardiologist
West Virginia University
Irfan Zeb, MD
Cardiologist
West Virginia University
Robert W.W. Biederman, MD
Cardiologist
West Virginia University, Morgantown, WV; Medical University of South Carolina; Roper/St. Francis Hospital, Charleston, SC.
An 18-year-old female patient presented to the cardiology clinic with a history of recurrent episodes of syncope occurring over the past four years. These episodes were triggered by standing and preceded by sudden flushing, profuse sweating, and lightheadedness. After the episodes, the patient regained consciousness spontaneously within a few seconds with complete recollection of the event. There was no association with strenuous activity, bowel or bladder incontinence, seizure-like activities, chest pain, or palpitations. Our patient had no history of substance use disorder, known heart disease, or family history of dysrhythmia, syncope, or sudden cardiac death. On evaluation, the patient was hemodynamically stable with a physical exam revealing pectus excavatum. Laboratory workup including complete blood count, basic metabolic profile, and thyroid function were unremarkable. ECG revealed normal sinus rhythm with sinus arrhythmia and asymmetric T-wave inversions in V1 to V3 leads.
Diagnostic Techniques and Their Most Important Findings:
A transthoracic echocardiogram showed a dilated and hypokinetic right ventricular (RV) apex with borderline normal right ventricular systolic function and normal systolic pressure. RV strain was reduced. For concern of arrhythmogenic right ventricular cardiomyopathy, a cardiac MRI (CMR) was performed revealing a prominent pectus excavatum displacing the cardiac structures posteriorly and leftward with mildly increased RV size and mildly reduced systolic function. Due to the mild compression of the basal and mid RV free wall from the pectus excavatum, there was mild dilation and akinesis of the apical and mid RV walls, without focal asynergy, microaneurysm, or fatty infiltration. CMR did not reveal any valvular abnormalities including pseudo-mitral stenosis. Late gadolinium enhancement (LGE) was unremarkable except for minimal fibrosis in the RV insertion site. T1, T2 mapping, and ECV parameters were normal. Despite atypical demographics, for further confirmation of findings, the patient was evaluated by the electrophysiology team and underwent a Holter monitor, which did not reveal any evidence of frequent or complex ventricular ectopy or tachyarrhythmias. The genetic testing (including Desmosomal, PLN, and LMNA genes) was also performed which was negative for ARVC.
Learning Points from this Case:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a life-threatening genetic disorder that necessitates defibrillator implantation along with significant lifestyle changes. Pectus excavatum can complicate the diagnosis of ARVC by causing structural changes and altering the appearance of the heart on imaging studies, which might overlap with or mask features of ARVC. Our patient’s age group, presentation, ECG findings, and echocardiography raised suspicion of ARVC. CMR was pivotal in ruling out ARVC in the absence of RV wall changes or fibrosis. It provided an improved evaluation of the cardiac morphology and function overcoming the limitations of echocardiography in the setting of pectus excavatum.
