To Be or Not to Be Compacted: A Case of Biventricular Hyper-trabeculation

Description of Clinical Presentation: 38 year old female with a past medical history significant for uncontrolled hypertension on three antihypertensive agents and tobacco use disorder who presents for evaluation of left ventricular hypertrophy. Patient drinks a glass of wine a few times per week. Family history is significant for heart disease in her father who passed away at age 55 with unknown details. There is no awareness of a clear sudden cardiac death history within the family. No known allergies.

Diagnostic Techniques and Their Most Important Findings: Axial imaging was performed with balanced steady state images. Cine imaging was performed in multiple cardiac specific orientations followed by post contrast images with inversion recovery.

Initial Cardiac MRI was obtained in 2014 which demonstrated normal left ventricular ejection fraction with mildly dilated left ventricle with deep trabeculations throughout the mid to apical left ventricle as well as prominent RV trabeculations on steady-state free precession (SSFP) images.

On patient’s current study completed in 2025, imaging notably demonstrated the ratio of end-diastolic non-compacted to compacted ratio of >2.3 in both the short axis and four chamber orientations. Notably, there was normal systolic function with normal regional wall motion without evidence of myocardial infarction, infiltrates or other abnormal enhancement of late gadolinium enhancement imaging.

Learning Points from this Case: Findings in this case are phenotypically consistent with the clinical entity formerly known as left ventricular non-compaction and should be morphologically described as “excessive trabeculation.” In the absence of myocardial dysfunction, abnormal myocardial mapping or late gadolinium enhancement, clinical reassurance has been felt to be appropriate given recent findings within the literature. Significant attention has been applied to the revision of diagnostic criteria as well as the clinical entity known as left ventricular non-compaction given previous studies demonstrating overdiagnosis in otherwise healthy populations. Nonetheless, the significant extent of hyper-trabeculation in this patient did prompt further genetic evaluation. She was ultimately found to have a sarcomeric truncating DNA alteration of NEBL gene which has been associated with various cardiomyopathies including left ventricular noncompaction as well as hypertrophic cardiomyopathy (Perrot et. al 2016). Ultimately, further study is needed regarding the phenotypic and genotypic connection that may exist within cases of excessive trabeculation to better elucidate and identify patients with an elevated risk profile for development of significant cardiomyopathy.

Steady State Free Precession image sequences showing biventricular hyper-trabeculation in diastolic short axis and 4 chamber views.
Steady State Free Precession sequences showing systolic short axis and 4 chamber views.
Late Gadolinium sequences showing absence of enhancement in the short axis and 4 chamber views.