Biventricular Noncompaction Cardiomyopathy: Rare Case with MRI Diagnosis Insights

Abstract

Noncompaction cardiomyopathy (NCC) is a rare congenital cardiomyopathy caused by the arrest of endomyocardial morphogenesis, leading to prominent trabeculations and deep intertrabecular recesses. Emerging evidence suggests that noncompaction may also occur secondary to other myocardial pathologies or have a genetic basis. A 59-year-old male with no coronary risk factors presented with 1-year history of chest pain, palpitations, orthopnea, and fatigue. Clinical examination revealed atrial fibrillation, normal pulmonary findings, and no peripheral edema. Echocardiography showed inferior wall hypokinesia, grade I diastolic dysfunction, with ejection fraction of 48%. Cardiac magnetic resonance imaging (MRI) confirmed excessive myocardial trabeculations with reduced biventricular function. Petersen, Stacey, and Jacquier criteria established the diagnosis of biventricular noncompaction (BVNC), a rare form of NCC. The patient was managed with standard heart failure therapy. BVNC, while rare, poses diagnostic challenges and carries significant morbidity due to heart failure and arrhythmias. This case describes the importance of MRI for accurate diagnosis and tailored management in BVNC.

Keywords

biventricular noncompaction cardiomyopathy (BVNC) - cardiovascular magnetic resonance imaging (CMR) - myocardial trabeculations

Introduction

Noncompaction (NC) is a rare congenital cardiomyopathy caused by arrested endomyocardial morphogenesis, typically between weeks 5 and 8 of embryogenesis.[1] NC is now recognized as a distinct myocardial disorder with characteristic morphological features,[2] [3] which may be genetic. It can present independently or in association with other cardiomyopathies. The diagnosis is based on imaging criteria and clinical context, reflecting the phenotypic expression of abnormal myocardial compaction during development. Clinically, NC may present with heart failure, chest pain, thromboembolic events, arrhythmias, and sudden cardiac arrest.[3] It can occur in isolation or be associated with congenital or developmental disorders.[4] The prevalence of NC is not well-established.[5] Cardiac magnetic resonance imaging (CMRI) offers superior spatial resolution, allowing for accurate quantification of the noncompacted-to-compacted myocardial ratio. Additionally, late gadolinium enhancement (LGE) assesses myocardial fibrosis, which has prognostic implications. While echocardiography remains the first-line imaging tool, its accuracy is operator-dependent, and poor acoustic windows can lead to misinterpretation. Timely diagnosis is crucial for risk stratification, treatment planning, and genetic counseling.

Case Report

A 59-year-old man presented with a 1-year history of chest pain, along with 1-month of palpitations, orthopnea, and fatigue. Examination showed a pulse of 75 beats per minute, blood pressure of 160/90 mm Hg, irregular rhythm, clear lungs, and no edema. ECG revealed atrial fibrillation with controlled ventricular response. Echocardiography showed inferior wall hypokinesia, ejection fraction (EF) of 48%, grade I diastolic dysfunction, mild pulmonary hypertension (pulmonary artery systolic pressure: 44 mm Hg), and normal right ventricle (RV) size ([Fig. 1]). The patient underwent CMRI.

Fig. 1 (A) Modified apical 4-chamber view showing obliteration of right ventricle (RV) apex due to noncompaction (red arrow). Partial obliteration of the left ventricle (LV) apex is also visible (blue arrow) due to noncompaction. (B) Short-axis view at mitral valve level showing noncompacted segment of the RV (green arrow).

CMRI was performed on a 3T Magnetom Vida system (Siemens Healthcare). TrueFISP images assessed left ventricle (LV) and RV function. Gadolinium contrast and 60-phase dynamic imaging were used to rule out perfusion deficits. T1 Look-Locker identified myocardial nulling, and phase-sensitive inversion recovery images in 2-chamber, 4-chamber, and short-axis views evaluated LGE. Flow studies of the pulmonary artery and aorta used two-dimensional phase-contrast imaging.

The analysis was performed using cvi42 software. The LV EF was 43%, with end-diastolic volume (EDV) of 60.29 mL/m², end-systolic volume (ESV) of 38.4 mL/m², and systolic volume (SV) of 30 mL/m². The RV EF was severely reduced to 31%, with EDV of 98 mL/m², ESV of 68 mL/m², and SV of 34 mL/m². Excessive myocardial trabeculations were noted in all planes. The LV end-diastolic diameter (internal diameter) measured 5.4 cm, and the RV end-diastolic internal diameter was 4.9 cm. RV trabeculated mass indexing yielded a value of 23.5 g/m². Global RV longitudinal strain (GLS) was –18.6.

Assessment of Left Ventricular Trabeculations

The Petersen,[6] Stacey,[7] and Jaquier[8] methods were employed to quantify myocardial mass.

• Petersen method: The LV chamber was oriented by drawing a long axis from the mitral valve to the apex. Identification of trabeculated noncompacted layer with blood signals and a compacted layer without blood was done on short axis. Noncompacted-to-compacted ratio was > 2.3 during end-diastole confirmed LVNC[6] ([Fig. 2A]).

Fig. 2 (A) Peterson method to assess for left ventricular noncompaction (end-diastolic noncompaction [NC]/compaction [C] ratio). NC/C: 15.6/6.1 = 2.5 (lateral wall), 16.1/5.5 = 3 (septal wall). (B) Stacey method to assess for left ventricular NC (end-systolic NC/C ratio). NC/C myocardium at the end-systole NC/C: 17.8/5.6 = 3.1.

• Stacey method: Noncompacted/compacted measurements were performed at end-systole in short-axis. A noncompacted-to-compacted ratio of > 2 defined LVNC[7] ([Fig. 2B]).

• Jacquier method: Short-axis slices were analyzed to measure total LV mass, including trabeculations and papillary muscles. Compacted mass excluded trabeculations and > 20% trabecular mass confirmed LVNC[8] ([Fig. 3A, B]).

Fig. 3 (A) Contour for compacted myocardium and (B) contour for compacted + noncompacted myocardium. Jacquier method to assess for left ventricular noncompaction (NC) (mass). NC mass = total mass − compacted mass. Compacted left ventricular mass 62 g. Total left ventricular mass 126.3 g. NC/C mass ratio = 126.3–62 = 64.3, i.e., 50.9%.

Discussion

NCC results from arrested compaction during early embryogenesis, characterized by a compact epicardial layer and prominent trabeculations.[1] Biventricular NCC (BVNC) is rare, and its prevalence remains unclear.[5] We found NC in both ventricles ([Fig. 4]). Genetic studies suggest a common genotype with variable phenotypic expression, raising questions about whether NCC is isolated or part of other cardiac diseases.[4] [9] It can be acquired rather than solely being inherited. This means that the phenotype can develop as a result of environmental factors or other nongenetic causes, even though the underlying genotype may be normal. Diet, lifestyle, exposure to toxins, and other external factors can alter gene expression or directly impact cellular processes, leading to acquired phenotypes. NC can even be associated with congenital heart diseases and cardiomyopathies.[10] The diagnosis is made using noncompacted/compacted ratio.[10] CMRI criteria by Peterson and Grothoff for diagnosing LVNC met in our patient.[6] [7] [8] RV involvement in NCC is rare, and specific RVNC criteria are not well-established.[11] The differentiation between LVNC and dilated cardiomyopathy (DCM) remains a topic of ongoing debate in the literature. Increased trabeculation may be an epiphenomenon of LV dilation rather than a distinct pathological entity. This raises the question of whether LVNC is more prevalent than previously recognized or whether it can also occur as a consequence of physiological LV dilation due to increased cardiac preload.

Fig. 4 (A) 2-Chamber left ventricle (LV) demonstrating compacted (1,4-yellow line) and noncompacted (2,3-yellow line) myocardium. (B) 2-Chamber right ventricle (RV) demonstrating compacted (1-yellow line) and noncompacted (2-yellow line) myocardium and excessive trabeculations. (C) 4-Chamber plane demonstrating excessive trabeculations in LV and RV at end-diastole. (D) LV short-axis (ED) demonstrating noncompaction (NC)/compaction (C) ratio of 6.2.

In our case, despite mild LV dilation, the presence of a high noncompacted-to-compacted myocardial ratio and biventricular involvement favored the diagnosis of LVNC over DCM ([Supplementary Video S1]). Given the emerging literature on RV involvement in NC, we performed RV trabeculated mass indexing, which yielded a value of 23.5 g/m², which is more than range in normal patients in the reference.[12] GLS was –18.6, which is reduced compared with normal reference ranges (∼ –20 to –25%) and suggests subclinical myocardial dysfunction. This reduction in GLS aligns with previous studies demonstrating that abnormal strain dynamics are an important functional marker of biventricular involvement in NC,[12] as RV NC remains an evolving entity without universally established diagnostic ranges.

Supplementary Video S1 Short-axis and 4-chamber cine showing compacted and noncompacted myocardium.

While longstanding hypertension can lead to increased trabeculation, the extent and pattern of trabeculation in our patient met established CMRI diagnostic criteria for BVNC, including a noncompacted-to-compacted myocardial ratio exceeding the defined threshold. Furthermore, the presence of deep intertrabecular recesses and the characteristic distribution of trabeculated segments favored diagnosis of BVNC over hypertensive heart disease or DCM-related hypertrabeculation.

Conclusion

This case underscores the importance of CMRI in diagnosing BVNC. Combining morphological features with functional assessment, including strain and trabecular mass analysis, is crucial for early detection and appropriate management of BVNC.

Conflict of Interest

None declared.

Note

All figures were obtained from the Department of Diagnostic and Interventional Radiology, AIIMS, Guwahati, and the Department of Cardiology, AIIMS, Guwahati.

Authors' Contributions

Concept: D.B.

Literature search: R.B.

Manuscript preparation: S.A.

Manuscript editing: K.S.

Manuscript review: P.P.

Patient's Consent

Written informed consent was obtained from the patient for publication of this case review including images.

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Publication History

Article published online:
11 June 2025