LV noncompaction cardiomyopathy (NCCM) or spongiform cardiomyopathy is a rare congenital cardiomyopathy due to an intra-uterine arrest of compaction of the myocardial fibres during embryogenesis [10]. NCCM is characterized by a thin, compacted epicardium and a thick non-compacted endocardium, with prominent trabeculation and deep intertrabecular recesses [10, 11]. Characteristic complications of NCCM include chronic heart failure, life-threatening ventricular arrhythmias and systemic embolic events [10, 11].

According to the literature, NCCM is the most extensively examined LV-RBR-related disease, where its prevalence ranged from 26% to 100% (Table 1) [11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21]. van Dalen et al. [12] assessed patients with dilated cardiomyopathy (DCM), healthy subjects and cases with prominent trabeculations, of whom expert opinion in NCCM defined some of them having NCCM, and found that LV-RBR was an objective, quantitative and reproducible functional criterion, and had a good predictive value in the diagnosis of NCCM. Specificity and sensitivity of LV-RBR was 88% and 78% in differentiating NCCM from LV “hypertrabeculation”, respectively [12]. Cw LV-RBR was detected in most NCCM cases [11, 12, 15, 18, 19, 20], which was found to be related to LV-EF [17]. Almost one-third of the relatives of NCCM patients showed LV-RBR, the ratio of Cw and CCw direction was the same [18]. Ratio of LV-RBR was significantly different between NCCM children and subjects with hypertrabecularization [19]. In another study, reverse LV apical rotation (Cw LV-RBR) was present in 39% of NCCM children [20].

LV rotational mechanics was examined only in a limited number of studies in series of DCM or nonischaemic (NICM) cardiomyopathy patients. 88–100% of patients showed Cw LV-RBR [22, 23]. Reversed apical rotation (Cw LV-RBR) and loss of LV torsion was found to be associated with significant LV remodelling, increased electrical dyssynchrony, reduced systolic function, and increased filling pressures in patients with DCM, indicating a more advanced stage of the disease [22]. The normal torsion pattern was observed more frequently in NICM patients without mid-wall fibrosis (MWF), and LV-RBR was more frequently observed in patients with MWF [24].

Hypertensive heart disease includes a number of complications due to high blood pressure including LV hypertrophy, heart failure, etc. In hypertensive cardiomyopathy patients with reduced LV-EF, 32% of subjects showed predominantly Cw LV-RBR suggesting compromised LV apical rotation similarly to NCCM/DCM/NICM patients [25]. Theoretically hypertension-related abnormalities, fibrosis, etc. could explain these findings. CCw LV-RBR was found in cases with peripartum and chloroquine cardiomyopathies [26, 27]. In a small study with hypertrophic cardiomyopathy (HCM), only 1 case out of 18 showed Cw LV-RBR [21].

Regarding the literature, only positron emission tomography-proven cardiac lymphoma [28] and biopsy-proven cardiac amyloidosis (CA) [29] were found to be related to LV-RBR at this moment. Interestingly, CCw LV-RBR could be demonstrated in all cases suggesting compromised LV basal rotation [28, 29]. Infiltration of the myocardial tissue by amyloid or lymphomatous tissue could lead to changes in LV twisting deformation [28, 29].

LV-RBR was reported only in a few case reports in certain congenital heart diseases (CHDs) including hypoplastic right heart syndrome [30], univentricular heart [31] and Ebstein’s anomaly [32]. Interestingly, hypoplastic right heart syndrome was associated with Cw LV-RBR, while univentricular heart and Ebstein’s anomaly were associated with CCw LV-RBR in some individual patients. Abnormalities in the development of myocardial architecture during morphogenesis could be theorised to be responsible for LV-RBR in these diseases [30, 31, 32].

Tetralogy of Fallot (TOF) is a cardiac anomaly with combination of ventricular septal defect, overriding aorta, pulmonary stenosis and right ventricular hypertrophy [33, 34, 35]. In patients with corrected TOF from the MAGYAR-Path Study, 27% of subjects showed Cw LV-RBR, while 11% of patients had CCw LV-RBR [33]. In case of corrected TOF patients with early total reconstruction, the same values proved to be beneficial compared to those who had early palliation and late correction. In another earlier study, the values of the same parameters were 15% and 18%, respectively, with patients with almost zero LV rotations [34] (Fig. 4). In the study of Dragulescu et al. [35], 38% of corrected TOF patients showed CCw LV-RBR.

Fig. 4.

Increased counterclockwise left ventricular apical rotation (white arrow) with almost zero left ventricular basal rotation (yellow arrow).

Acromegaly is a rare and chronic hormonal disorder that develops due to the hypersecretion of the human growth hormone (GH) and insulin-like growth factor-1 (IGF-1) in adults [36, 37, 38]. LV-RBR could be detected in 20% of the cases with normal LV-EF (without obvious signs of classic acromegalic cardiomyopathy), which did not depend on the presence or absence of diabetes mellitus [37, 38]. LV-RBR proved to be CCw in 75% of cases, these abnormalities could be theorized to long-term effects of GH and IGF-1.

Hypopituitarism is a rare and complex hormonal disease caused by the decreased secretion of one or more hormones in the pituitary gland. LV-RBR was present in 13% of patients, potentially due to abnormal secretion of certain hormones [39].

While lipedema is a feminine disorder with disproportional, bilateral and symmetrical obesity of unknown pathomechanism, excessive accumulation of lymphatic fluid could be detected due to certain factors in lymphedema [40]. In several cases, lipedema and lymphedema are difficult to be differentiated clinically. However, in both disorders, the ratio of LV-RBR was similar (14%) with typical CCw direction in lymphedema patients [40]. The use of compression medical stockings had significant effects on LV rotational mechanics both in lipedema [41] and lymphedema [42].

Hidradenitis suppurativa is a dermatological disorder where chronic inflammation was suggested to be having effects on LV rotational mechanics [43].

Haemophilia is an X-linked congenital coagulation factor deficiency. Although significant LV rotational abnormalities are present in haemophilia with reduced LV apical rotation and twist, ratio of patients with LV-RBR is not higher than in the normal population [44].

In hypereosinophilic syndrome (HES), peripheral eosinophilia and eosinophilic tissue/end-organ damage could be demonstrated [45]. In HES patients in the early necrotic stage, LV rotational abnormalities including presence of LV-RBR was found in 13% of cases.

In all patients with end-stage renal disease, kidney transplantation is the preferred treatment [46]. In post-transplant patients, ratio of LV-RBR was not significantly higher than in normal controls with CCw direction.

In a recent case report, twin-to-twin transfusion syndrome was confirmed in the past medical history of an identical pair of twins who showed different patterns of LV-RBR, Cw LV-RBR was described in the recipient twin and CCw LV-RBR was found in the donor twin [47]. Similarly to CHDs, abnormalities in the development of myocardial architecture could lead to LV-RBR in twin-to-twin transfusion syndrome theoretically.

Normally, the LV base rotates clockwise, while the LV apex rotates in counterclockwise direction. In Cw LV-RBR, apical rotation of the LV has a clockwise direction (negative value on 3DSTE images, Fig. 2), while in CCw LV-RBR, basal rotation of the LV has a counterclockwise direction (positive value on 3DSTE images, Fig. 3). Direction of LV-RBR and their ratio in certain cardiac and non-cardiac disorders are presented in Tables 1 and 2 (Ref. [17, 36, 37, 38, 39, 40, 43, 44, 45, 46, 47, 48, 49]). Interestingly, while most cardiomyopathy patients showed Cw LV-RBR [11, 12, 15, 18, 19, 22, 23, 25], patients with non-cardiac disorders without obvious cardiac involvement (lymphedema, acromegaly, following kidney transplantation) most likely had CCw LV-RBR [37, 40, 46].

A recent report described a patient with evidence of reversible LV-RBR who met the clinical criteria for the diagnosis of both peripartum cardiomyopathy and LV noncompaction with reduced LV-EF. Following 6-months heart failure treatment, improvement in LV-EF could be observed together with normalization of LV rotational mechanics [26].

Vasodilation and stress-related LV-RBR is weakly assessed. In a patient with previous coronary stenting presented with stable angina and positive exercise treadmill test, LV-RBR could be demonstrated, its characteristics changed dramatically during dipyridamole-induced vasodilatation [50]. A case of abnormal CCw rotation of the LV base was reported in a patient with angina pectoris without significant coronary artery disease (CAD) at rest, the direction of the rotation of the LV base changed to Cw theoretically due to dipyridamole-induced vasodilation via improved blood supply at maximum hyperaemia [51]. At the recovery phase, LV-RBR could be detected again in this case. On the contrary, a CAD patient showed LV-RBR during dipyridamole stress, which normalized by the end of stress [52].

LV-RBR is the near absence of LV twist, when rotation at both apical and basal levels of the LV occur in the same Cw or CCw direction (Figs. 2,3,4). Although all segments move in the same direction, the amplitude of their motion could be different leading to regional differences between apical and basal LV rotations called as LV apico-basal gradient (Fig. 5). In some disorders, LV apico-basal gradient could be elevated like in case of CA [29]. Its clinical significance is not known but could be considered as an over-compensation due to absence of normally directed LV rotational mechanics. Similar changes could be detected during stress as well [50, 51, 52].

Fig. 5.

Differences between apical and basal left ventricular rotations in the same counterclockwise direction demonstrating high (left panel) or low (right panel) left ventricular apico-basal rotational gradient. LV, left ventricular; EDV, end-diastolic volume; ESV, end-systolic volume; EF, ejection fraction; LV-GLS, LV global longitudinal strain; LV-GCS, LV global circumferential strain; LV-GAS, LV global area strain.