2025 FSA Podium and Poster Abstracts

Introduction: Left ventricular non-compaction (LVNC) is a rare genetic cardiomyopathy characterized by prominent trabeculations that communicate with the ventricular cavity along with a thin, compacted epicardial layer. Due to the phenotypic heterogeneity of this disease process, patients with LVNC can be grouped into the following categories based on cardiac morphology and symptoms: Isolated LVNC, LVNC-associated cardiomyopathy with dilation and dysfunction at infancy, LVNC meeting criteria for an additional cardiomyopathy, LVNC associated with congenital heart diseases, syndromes associated with LVNC, acquired/potentially reversible LVNC and right ventricular noncompaction. Currently there is no generally accepted diagnostic criteria for this disease, the most conventional method involves imaging the LV and illustrating the presence of specific criteria involving the thickness of the compacted myocardial wall and the trabeculated layer of cardiac muscle. Here we present a case of a 27-year-old female for an orthotopic heart transplant with an established diagnosis of LVNC on cardiac imaging as demonstrated in Figure 1.

Case Report: This is a case of a 27-year-old female with a history of HFrEF, NYHA Class IV stage D, LVNC with a positive genetic marker for MYBPC3 and polysubstance abuse who presented to the ED in acutely decompensated heart failure. During her hospital admission, she began to complain of angina and was found to be in cardiogenic shock requiring an intra-aortic balloon pump. Due to her declining cardiac function, her waitlisted status for an orthotopic heart transplant was changed to 1e. Shortly thereafter, she underwent a successful orthotopic heart transplant and was discharged home on postoperative day 28.

Discussion: LVNC is a rare disease process that carries with it a highly variable and genetic-dependent prognosis. The most commonly found mutations are located in the beta-myosin heavy chain, MYBPC3 and titan gene. Studies have recommended that individuals affected with a known mutation should have their first-degree relatives tested. In addition, those with decreased ventricular function, thromboembolic events and atrial and ventricular dysrhythmias have also demonstrated to have a worse outcome. 

Studies within the pediatric population reported mortality rates in children with LVNC to be up to 13 percent, with 90 percent of children developing systolic dysfunction during a follow-up of 10 years . Although rare, advances in imaging techniques have made it possible to be able to detect and diagnose this disease process earlier. It is imperative to consider this complex disease process for young adults and pediatric patients who have a family history of cardiac death and thromboembolic complications. Further studies are still required to more effectively manage this patient population.