Skip to main content
2025 SCMR Conference Main banner
Final Program


Schedule at a Glance
Back

Quick Fire Cases

Quick Fire 4- Non-Ischemic Cardiomyopathies V

Arrhythmogenic Ventricular Cardiomyopathy in a Sibling Duo: Unraveling the Clinical Mysteries Behind a Family History of Sudden Cardiac Death (QF_SA_126)

Saturday, February 1, 2025
8:50 AM – 9:00 AM East Coast USA Time
Location: Blue Room PreFunction
Description of Clinical Presentation: We describe an interesting case of a 27-year-old female from a rural part of Pakistan. She sought medical attention after experiencing worsening shortness of breath over the preceding several months that wasn't associated with syncope, presyncope, chest discomfort, or palpitations. Her physical assessment was unremarkable. Her comprehensive family history indicated an alarming pattern of sudden cardiac death (SCD) among her siblings. Out of the 17 siblings, eight had suffered SCD at a young age without any prior tests or diagnoses.

Diagnostic Techniques and Their Most Important Findings: An ECG showed inverted T waves in the precordial leads (V1, V2, and V3), as well as incomplete right bundle branch block. Echocardiography revealed a dilated right ventricle (RV) with systolic dysfunction and regional dyskinesia. Cardiac MRI (CMR) revealed a thin-walled, dilated RV (indexed right ventricular end-diastolic volume (RVEDV) of 116 ml/m2) with systolic dysfunction (EF 30%). Her cardiac MRI was notable for dyskinesis of the mid RV free wall and out flow tract. The tissue characterization revealed T1 and T2 times (1120 ms and 50 ms, respectively). (Figures 1 and 2)

Learning Points from this Case:

The CMR findings were consistent with the diagnosis of arrhythmogenic ventricular cardiomyopathy (AVC) per the 2020 PAUDA criteria. Her 13-year-old brother, who accompanied her, was likewise diagnosed with AVC with dyskinesis of the mid free wall of the right ventricle, an RVEDV of 122 ml/m², and a decreased EF of 20% on CMR. Figure 3.

 

Figure 3 Cardiac magnetic resonance imaging (CMR) 4 chamber depicting a dilated right ventricle (RV) with apical dyskinesia in a patient with arrhythmogenic ventricular cardiomyopathy (AVC).

 


Learning Points from this

Case: RV abnormalities on an echocardiogram in the presence of a family history of SCD should raise concern for hereditary and acquired dilated cardiomyopathies, and CMR can often help with diagnosis. AVC is characterized by fibro-fatty myocardial changes and is associated with ventricular arrhythmias and SCD. This case emphasizes the critical role of family history and CMR in solving the mystery of sudden cardiac death caused by AVC, as well as the importance of proactive familial screening and early intervention with implantable cardioverter-defibrillator to prevent life-threatening arrhythmic events.