Left Ventricular Noncompaction Research Articles

Left ventricular function assessment including or excluding trabeculations in left ventricular non-compaction, a preliminary case-control cardiac magnetic resonance study.

Functional assessment of compact myocardium and hypertrabeculations in left ventricular non-compaction (LVNC) is underestimated with regards to the morphological spectrum of disease. We aimed to assess whether measuring concurrently left ventricular (LV) volume, mass and ejection fraction (LVEF) with and without trabeculation inclusion on cine magnetic resonance (cineMR) could help diagnose patients with LVNC by comparison to normal individuals with an excess of myocardial trabeculations. This retrospective single center magnetic resonance imaging study (Bichat University Hospital) of 67 consecutive patients with echocardiographic hypertrabeculations seen at echocardiography between March 2011 and October 2018 included 30 patients with known LVNC and 16 control subjects with simple hypertrabeculations (non-compact/compact (NC/C) ratio between 1.8 and 2.2, trabeculations involving 10% to 17% of the left ventricle) using steady-state free precession (SSFP) cine sequences in the standard views. LV volumes, mass and LVEF were measured with and without trabeculation inclusion using CVI42 software. Follow-up was studied in 20 patients and 14 controls. Functional parameters were compared using Student's paired t-test. Pearson product moment correlation coefficients were calculated. Bland-Altman analysis determined the inter- and intra-reader functional data reproducibility. When excluding the trabeculations (i.e. non-compacted myocardium) from measurements, LVEF was within normal ranges both in patients and controls, while it increased by 9.8%±1.6% in LVNC and decreased by 10.9%±1.4% in controls when trabeculae were included in the endocardial contours (P<0.0001). The overall myocardial mass remained stable according to the diastolic or systolic phase in LVNC whereas it significantly decreased in controls. Depending whether trabeculations were included or not, LVEF measurements were significantly different between patients with LVNC and controls. These distinctive measurements might be used as an adjunctive clinical tool to help confirm the diagnosis of LVNC.

Left Ventricular Trabeculation: Arrhythmogenic and Clinical Significance in Elite Athletes

Left ventricular (LV) trabeculations (LVTs) are common findings in athletes. Limited information exists regarding clinical significance, management, and outcome. The purpose of this study is to examine the prevalence and morphologic characteristics of LVTs in elite athletes, with a focus on clinical correlates and prognostic significance. We enrolled 1,492 Olympic elite athletes of different sports disciplines with electrocardiogram, echocardiogram, and exercise stress test. Individuals with a definite diagnosis of LV noncompaction (LVNC) were excluded; we focused on athletes with LVTs not meeting the criteria for LVNC. Four hundred thirty-five (29.1%) athletes presented with LVTs, which were more frequent in male athletes (62.1% vs 53.5%, P=.002) and Black athletes compared with Caucasian (7.1% vs 2.4%, P<.0001) and endurance athletes (P=.0005). No differences were found with relation to either the site or extent of trabeculations. Endurance athletes showed a higher proportion of LVTs and larger LV volumes (end-diastolic and end-systolic, respectively, 91.5±19.8mL vs 79.3±29.9mL, P=.002; and 33.1±10mL vs 28.6±11.7mL, P=.007) and diastolic pattern with higher E wave (P=.01) and e' septal velocities (P=.02). Ventricular arrhythmias were found in 14% of LVTs versus 11.6% of athletes without LVTs (P=.22). Neither the location nor the LVTs' extension were correlated to ventricular arrhythmias. At 52±32months of follow-up, no differences in arrhythmic burden were observed (11.1% in LVT athletes vs 10.2%, P=.51). Left ventricular trabeculations are quite common in athletes, mostly male, Black, and endurance, likely as the expression of adaptive remodeling. In the absence of associated clinical abnormalities, such as LV systolic and diastolic impairment, electrocardiogram repolarization abnormalities, or family evidence of cardiomyopathy, athletes with LVTs have benign clinical significance and should not require further investigation.

Rare case of super-response to Cardiac Resynchronization Therapy in Macedonian patient with Dilated Left Ventricular Non-Compaction Cardiomyopathy

Background: Left ventricular non-compaction (LVNC) is rare cardiomyopathy with increased and prominent endomyocardial trabeculations also known as spongy myocardium. It is often found in association with a dilated cardiomyopathy (DCM) and has high incidence of Heart failure (HF). Cardiac resynchronization therapy (CRT) is currently recommended by the available guidelines for selected patients with Heart failure with reduced ejection fraction (HFrEF). Aim: Our case report aims to highlight the therapeutic benefits and superresponse to CRT in a patient with Left ventricular non-compaction cardiomyopathy and HFrEF. Case report: 55-year-old Macedonian male patient with HFrEF, Left bundle branch block (LBBB) remained symptomatic (NYHA III) despite optimal medical treatment (OMT). Echocardiography and CMR findings were in addition to dilated and left ventricular non-compaction cardiomyopathy. Cardiac resynchronization therapy was indicated and 18 months after implantation of CRT-P device we have achieved complete and utter reversibility of systolic myocardial function (EF from 23% to 53%), left ventricular internal diameter was reduced from 90mm to 64mm, left ventricular end systolic volume (LVESV) was reduced from 319ml to 98ml and patient quality of life significantly improved. Conclusion: Cardiac resynchronization therapy is a safe and valuable method of treatment for patients with HFrEF due to dilated left ventricular non-compaction cardiomyopathy.

Long-term prognostic value of thyroid hormones in left ventricular noncompaction.

Thyroid function is closely related to the prognosis of cardiovascular diseases. This study aimed to explore the predictive value of thyroid hormones for adverse cardiovascular outcomes in left ventricular noncompaction (LVNC). This longitudinal cohort study enrolled 388 consecutive LVNC patients with complete thyroid function profiles and comprehensive cardiovascular assessment. Potential predictors for adverse outcomes were thoroughly evaluated. Over a median follow-up of 5.22years, primary outcome (the combination of cardiovascular mortality and heart transplantation) occurred in 98 (25.3%) patients. For secondary outcomes, 75 (19.3%) patients died and 130 (33.5%) patients experienced major adverse cardiovascular events (MACE). Multivariable Cox analysis identified that free triiodothyronine (FT3) was independently associated with both primary (HR 0.455, 95%CI 0.313-0.664) and secondary (HR 0.547, 95%CI 0.349-0.858; HR 0.663, 95%CI 0.475-0.925) outcomes. Restricted cubic spline analysis illustrated that the risk for adverse outcomes increased significantly with the decline of serum FT3. The LVNC cohort was further stratified according to tertiles of FT3 levels. Individuals with lower FT3 levels in the tertile 1 group suffered from severe cardiac dysfunction and remodeling, resulting in higher incidence of mortality and MACE (Log-rank P < 0.001). Subgroup analysis revealed that lower concentration of FT3 was linked to worse prognosis, particularly for patients with left atrial diameter ≥ 40mm or left ventricular ejection fraction ≤ 35%. Adding FT3 to the pre-existing risk score for MACE in LVNC improved its predictive performance. Through the long-term investigation on a large LVNC cohort, we demonstrated that low FT3 level was an independent predictor for adverse cardiovascular outcomes.

Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.

Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. This study sought to investigate the association between the TBX20 truncating variant (TBX20tv) and DCM/LVNC. TBX20 was sequenced by next-generation sequencing in 7463 unrelated probands with a diagnosis of DCM or LVNC, 22 773 probands of an internal comparison group (hypertrophic cardiomyopathy, channelopathies, or aortic diseases), and 124 098 external controls (individuals from the gnomAD database). Enrichment of TBX20tv in DCM/LVNC was calculated, cosegregation was determined in selected families, and clinical characteristics and outcomes were analyzed in carriers. TBX20tv was enriched in DCM/LVNC (24/7463; 0.32%) compared with internal (1/22 773; 0.004%) and external comparison groups (4/124 098; 0.003%), with odds ratios of 73.23 (95% CI, 9.90-541.45; P<0.0001) and 99.76 (95% CI, 34.60-287.62; P<0.0001), respectively. TBX20tv was cosegregated with DCM/LVNC phenotype in 21 families for a combined LOD score of 4.53 (strong linkage). Among 57 individuals with TBX20tv (49.1% male; mean age, 35.9±20.8 years), 41 (71.9%) exhibited DCM/LVNC, of whom 14 (34.1%) had also congenital heart defects. After a median follow-up of 6.9 (95% CI, 25-75:3.6-14.5) years, 9.7% of patients with DCM/LVNC had end-stage heart failure events and 4.8% experienced malignant ventricular arrhythmias. TBX20tv is associated with DCM/LVNC; congenital heart defect is also present in around one-third of cases. TBX20tv-associated DCM/LVNC is characterized by a nonaggressive phenotype, with a low incidence of major cardiovascular events. TBX20 should be considered a definitive gene for DCM and LVNC and routinely included in genetic testing panels for these phenotypes.

Impact of Cardiac Magnetic Resonance on the Diagnosis of Left Ventricular Noncompaction-A 15-Year Experience.

The aim of this study was to assess the impact of cardiac magnetic resonance (CMR) on the diagnosis in patients with known or suspected left ventricular noncompaction (LVNC). We retrospectively reviewed the medical charts of 12,811 consecutive patients who had CMR studies between 2008 and 2022 in a large tertiary center. We included patients referred for CMR because of known or suspected LVNC. The study sample consisted of 333 patients, 193 (58.0%) male, median age 39.0 (26.8-51.0) years. Among 74 patients fulfilling the echocardiographic LVNC criteria, the diagnosis was confirmed in 54 (73.0%) cases. In 259 patients with ultrasound-based suspicion of LVNC, CMR led to an LVNC diagnosis in 82 (31.7%) patients. In both groups, CMR led to a new diagnosis in 89 cases (10 (13.5%) and 79 (30.5%)). A quantity of 38 (5.4%) patients were diagnosed with dilated cardiomyopathy, 11 (1.4%) patients were diagnosed with hypertrophic cardiomyopathy, and 21 (4.1%) patients were diagnosed with unclassified cardiomyopathy. In four patients with suspected LVNC, a myocardial trabeculation was a secondary result of dilatation due to coronary heart disease. In five cases, valvular heart disease was found. Four patients were diagnosed with athlete's heart. Other diagnoses (arrhythmogenic right ventricular cardiomyopathy, peripartum cardiomyopathy, hypokinetic non-dilated cardiomyopathy, sarcoidosis, amyloidosis, and ventricular septum defect) were found in six patients. CMR is a valuable tool in the evaluation of cardiac muscle and in differentiating LVNC and other cardiac diseases.

Difficulties in selecting antiarrhythmic therapy in a patient with left ventricular noncompaction and atrial septal defect: a case report

Introduction. Left ventricular noncompaction (LVNC) is a rare heterogeneous pathology characterized by a two-layered structure with a predominance of non-compact layer in the form of multiple trabeculations and pockets between them, communicating with the left ventricular cavity. One of the rare LVNC phenotypes is a combination with congenital heart defects, including atrial septal defect (ASD).Brief description. The article presents a case report describing the difficulties of selecting antiarrhythmic therapy in a patient with LVNC and ASD, complicated by arrhythmias due to heart failure. The diagnosis of LVNC was confirmed by the Petersen criterion using magnetic resonance imaging.Discussion. Cardiac arrhythmias in patients with LVNC and congenital heart defects, as a result of both anatomical and hemodynamic causes of electrical heart instability, constitute a danger of thromboembolism and sudden cardiac death, and also contribute to heart failure progression. The case is of interest due to the rare combination of LVNC and ASD, complicated by frequent episodes atrial fibrillation and premature ventricular contractions in the form of parasystoles, as well as difficulties in selecting antiarrhythmic therapy. Pulmonary vein cryoballoon ablation eliminated the source of atrial fibrillation. Ventricular ectopic activity was stopped using the anticonvulsant drug carbamazepine.

Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria.

Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder characterized by prominent trabeculae protruding into the left ventricular lumen and deep intertrabecular recesses. LVNC can manifest in isolation or alongside other heart muscle diseases. Its occurrence among children is rising due to advancements in imaging techniques. The origins of LVNC are diverse, involving both genetic and acquired forms. The clinical manifestation varies greatly, with some cases presenting no symptoms, while others typically manifesting with heart failure, systemic embolism, and arrhythmias. Diagnosis mainly relies on assessing heart structure using imaging tools like echocardiography and cardiac magnetic resonance. However, the absence of a universally agreed-upon standard and limitations in diagnostic criteria have led to ongoing debates in the scientific community regarding the most reliable methods. Further research is crucial to enhance the diagnosis of LVNC, particularly in early life stages.

Kiosk 2Q-FA-01 - Double Trouble: Ebstein Anomaly Associated with Left Ventricular Non-compaction

Kiosk 2Q-FA-01 - Double Trouble: Ebstein Anomaly Associated with Left Ventricular Non-compaction

Kiosk 2Q-TA-09 - Cardiac Magnetic Resonance (CMR) in the Diagnosis of Left Ventricular Noncompaction Cardiomyopathy: A Complex Clinical Presentation

Kiosk 2Q-TA-09 - Cardiac Magnetic Resonance (CMR) in the Diagnosis of Left Ventricular Noncompaction Cardiomyopathy: A Complex Clinical Presentation

Kiosk 3R-TC-09 - Differentiating Excessive Trabeculations FBom Left Ventricular Non-compaction Cardiomyopathy Utilizing Cardiovascular Magnetic Resonance

Kiosk 3R-TC-09 - Differentiating Excessive Trabeculations FBom Left Ventricular Non-compaction Cardiomyopathy Utilizing Cardiovascular Magnetic Resonance

Myocardial Mechanics and Associated Valvular and Vascular Abnormalities in Left Ventricular Noncompaction Cardiomyopathy.

Left ventricular (LV) non-compaction (LVNC) is a rare genetic cardiomyopathy due to abnormal intra-uterine arrest of compaction of the myocardial fibers during endomyocardial embryogenesis. Due to the partial or complete absence of LV compaction, the structure of the LV wall shows characteristic abnormalities, including a thin compacted epicardium and a thick non-compacted endocardium with prominent trabeculations and deep intertrabecular recesses. LVNC is frequently associated with chronic heart failure, life-threatening ventricular arrhythmias, and systemic embolic events. According to recent findings, in the presence of LVNC, dysfunctional LV proved to be associated with left atrial volumetric and functional abnormalities and consequential dilated and functionally impaired mitral annulus, partly explaining the higher prevalence of regurgitation. Although the non-compaction process morphologically affects only the LV, signs of remodeling of the right heart were also detected. Moreover, dilation and stiffening of the aorta were present. The aim of the present detailed review was to summarize findings regarding changes in cardiac mechanics, valvular abnormalities, and vascular remodeling detected in patients with LVNC.

Improving a Deep Learning Model to Accurately Diagnose LVNC.

Accurate diagnosis of Left Ventricular Noncompaction Cardiomyopathy (LVNC) is critical for proper patient treatment but remains challenging. This work improves LVNC detection by improving left ventricle segmentation in cardiac MR images. Trabeculated left ventricle indicates LVNC, but automatic segmentation is difficult. We present techniques to improve segmentation and evaluate their impact on LVNC diagnosis. Three main methods are introduced: (1) using full 800 × 800 MR images rather than 512 × 512; (2) a clustering algorithm to eliminate neural network hallucinations; (3) advanced network architectures including Attention U-Net, MSA-UNet, and U-Net++.Experiments utilize cardiac MR datasets from three different hospitals. U-Net++ achieves the best segmentation performance using 800 × 800 images, and it improves the mean segmentation Dice score by 0.02 over the baseline U-Net, the clustering algorithm improves the mean Dice score by 0.06 on the images it affected, and the U-Net++ provides an additional 0.02 mean Dice score over the baseline U-Net. For LVNC diagnosis, U-Net++ achieves 0.896 accuracy, 0.907 precision, and 0.912 F1-score outperforming the baseline U-Net. Proposed techniques enhance LVNC detection, but differences between hospitals reveal problems in improving generalization. This work provides validated methods for precise LVNC diagnosis.

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype.

Excessive trabeculation of the cardiac left ventricular wall is a complex phenotypic substrate associated with various physiological and pathological processes. There has been considerable conjecture as to whether hypertrabeculation contributes to disease and whether left ventricular non-compaction (LVNC) cardiomyopathy is a distinct pathology. Building on recent insights into the genetic basis of LVNC cardiomyopathy, in particular three meta-analysis studies exploring genotype-phenotype associations using different methodologies, this review examines how genetic research can advance our understanding of trabeculation. Three groups of genes implicated in LVNC are described-those associated with other cardiomyopathies, other cardiac/syndromic conditions and putatively with isolated LVNC cardiomyopathy-demonstrating how these findings can inform the underlying pathologies in LVNC patients and aid differential diagnosis and management in clinical practice despite the limited utility suggested for LVNC genetic testing in recent guidelines. The outstanding questions and future research priorities for exploring the genetics of hypertrabeculation are discussed.

Thinning of compact layer and systolic dysfunction in isolated left ventricular non-compaction: A cardiac magnetic resonance study

BackgroundThe Petersen’ index reflects an excess of myocardial trabeculation which is not a specific morpho-functional feature of left ventricular non-compaction (LVNC) cardiomyopathy, but a “phenotypic trait” even observed in association with other myocardial diseases and over-loading conditions. The present study was designed to evaluate the relation between a critical thinning of compact layer and the development of systolic dysfunction and LVNC cardiomyopathy. MethodsWe compared CMR morpho-functional features and measurements of LV wall thickness using a 17 segment model of a cohort of patients fulfilling the Petersen criterion for LVNC with LV systolic dysfunction versus those of a cohort of age- and sex-matched controls with LVNC and preserved LV systolic function. All the study patients had an “isolated” LVNC defined as positive Petersen criterion in the absence of other diseases such as hypertrophic and dilated cardiomyopathy, valvular heart disease, or congenital heart disease and over-loading conditions. Resultshe study population included 33 patients with “isolated” LVNC: 11 consecutive index patients with a reduced LV ejection fraction (LVNCrEF) and 22 controls with a preserved LVEF (LVNCpEF). The compact myocardial layer was thinner in patients with LVNCrEF than in those with LVNCpEF patients, both in mid-ventricular and apical LV segments. On linear regression analysis, there was a linear correlation between median thickness of mid-ventricular free wall segments and left ventricular ejection fraction (r = 0.51, p = 0.005). On the ROC curves analysis, ≥2 segments with a compact myocardial layer <5 mm in the free wall mid-ventricular segments showed the best accuracy for reduced LVEF (100% sensitivity and 60% specificity; AUC 0.81, p < 0.01). The negative predictive value for LV systolic dysfunction of <2 free wall mid ventricular segments <5 mm was 100%. On quantitative analysis, the mass of papillary muscles was lower in patients with LVNCrEF [1.2 (0.8–1.4) versus 1.6 (1.1–1.8) g/mq; p = 0.08]. Conclusions: A thinned compact layer of mid-ventricular segments of the LV free wall was associated with a reduced systolic function and “isolated” LVNC cardiomyopathy.

[Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7].

Objective: To explore the relationship between pathogenic gene, mutation and phenotype of left ventricular noncompaction (LVNC) patients and their family members. Methods: The subjects were the proband with LVNC and her family members. The medical history including electrocardiogram, echocardiography and cardiac magnetic resonance examination of the proband and family members were collected. Whole exome sequencing of the proband was performed, bioinformatics analysis focused on the genes related to hereditary cardiomyopathy. Candidate pathogenic sites were validated by Sanger sequencing. The clinical interpretation of sequence variants were classified according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results: The proband carried a heterozygous variation of the MYBPC3 gene c.C2827T and the MYH7 gene c.G2221C. The proband's sister carried heterozygous variation of MYBPC3 gene c.C2827T. According to the ACMG guidelines, the variant was determined to be pathogenic. Conclusion: The missense variant of MYBPC3 gene c.C2827T and MYH7 gene c.G2221C are identified from the proband with LVNC and her family member, which provides a genetic basis for clinical diagnosis and genetic counseling of the patients and the family members with LVNC.

Highlights of right ventricular characteristics of left ventricular noncompaction using 3D echocardiography

Highlights of right ventricular characteristics of left ventricular noncompaction using 3D echocardiography.The aspects of right ventricular volumes and function investigated with 3D echocardiography in a large cohort of left ventricular noncompaction morphology (LVNC) population remains unclear.The objective of our research was to study the left (LV) and right (RV) ventricular parameters using 3D echocardiography and analyze the clinical features of a LVNC population with preserved LV ejection fraction (EF > 50 %) in comparison with healthy controls (HC).We selected 41 LVNC subjects with preserved LV function (EF: 52.91 ± 3 %, male n = 26) and without any comorbidities and compared them with an age and sex-matched HC. Three dimensional endocardial contours were evaluated to determine the following LV and RV parameters: end-diastolic (EDV) and end-systolic (ESV) volumes, stroke volume, EF, LV global longitudinal and circumferential strain and RV septal and free wall longitudinal strain.Regarding the clinical characteristics, the family involvement had a notable proportion, accounting for 51%. The EF and strain values of the LVNC population were significantly decreased in both RV and LV compared to HC. Although the LV volumes of the LVNC group were significantly elevated, the RV volumetric parameters did not differ significantly compared to controls. We found significant correlations between LV and RV volumetric and functional parameters and linear regression models showed that LV EDV and LV ESV determined the RV volumetric values.While the alteration and relationship of the RV parameters may represent the potential of biventricular involvement, clinical characteristics of the LVNC group underlines the necessity of monitoring this population, even with preserved EF.

Right ventricular global longitudinal strain is associated with cardiovascular outcome in left ventricular non-compaction phenotype

Abstract Introduction Speckle-tracking echocardiography is an increasingly important tool for assessing left ventricular non-compaction (LVNC) phenotype. This study aims to analyse right (RV) and left (LV) ventricular global longitudinal strain (GLS) in patients with LVNC and explore their association with CV outcome during long-term follow-up. Methods From our prospective LVNC cohort study, 40 patients were identified with a comprehensive echocardiographic examination including strain analysis of both ventricles. Strain was determined using TomTec ImageArena v.4.6. A combined endpoint (CV event) was defined to include: atrial flutter/fibrillation, sustained ventricular arrhythmias, cardiac syncope, thromboembolic event, heart failure progression, aborted cardiac arrest, cardiovascular death or heart transplantation. Results Over a median follow-up duration of 8 [6–10] years, 23 (58%) of the patients experienced one or more CV event (event group); while the rest (17 [42%]) did not (no event group). Baseline clinical characteristics of the two groups were comparable except for a significantly older age (P&amp;lt;0.01) and a higher BMI (P=0.033) in the event group. RVGLS (Figure 1) was significantly lower in the event group (-13.9[-17.1 – -10.3]%) compared to no-event group (-17.3[-18.8 – -15.1]%, P=0.019). While LVGLS did not show a significant difference (P=0.112), LVEF was significantly lower (P=0.011) in the event group. Other echocardiographic parameters were comparable between the groups. RVGLS &amp;gt; -14.3% (sens. 61%, spec. 88%, AUC 72%; P = 0.010) was applied as cut-off to identify patients with a higher risk of CV events during follow-up. Kaplan-Meier curves revealed a higher probability of CV events when RVGLS was &amp;gt; -14.3% (ꭓ2 = 10.28, P = 0.001; Figure 2). Univariable regression models showed that RVGLS (HR 1.10; P = 0.013), LVGLS (HR 1.23; P = 0.045), and LVEF (HR 0.95; P = 0.005) were associated with an increased risk of CV events. The association of RVGLS (OR 1.19, P = 0.047) remained independent of LV GLS and LVEF in a multivariable logistic regression analysis. When RVGLS was included to the LV function model, a significant improvement was noted (ꭓ2 from 7.31 to 11.58; ANOVA P = 0.009). Conclusions RVGLS differentiated LVNC patients suffering a CV event from those who did not and provided incremental value to the association of LV function (LVEF and LVGLS) with an increased risk of CV events. These findings highlight the potential value of RVGLS for evaluating long-term outcome during follow-up of LVNC patients.

Cardiac magnetic resonance imaging in athletes with suspected structural myocardial disease: results of a high volume single-center study

Abstract Introduction Structural heart disease is one of the leading causes of sudden cardiac death in athletes. Cardiac magnetic resonance imaging (CMR) has a key role in the diagnosis, providing accurate functional and morphological information. Aim To investigate the prevalence of structural heart disease and the etiology of sudden cardiac death (SCD) in athletes. Methods We enrolled athletes (training ≥6 hours/week) who underwent CMR due to suspected structural myocardial disease at our Heart and Vascular Center between 2009 and 2022. We also performed cardiogenetic testing with new-generation sequencing (174 genes) in athletes with confirmed structural heart disease and/or malignant arrhythmia who gave consent. Results CMR was performed on a total of 556 athletes (445 male, 24±10 age). The indications for CMR were as follows: aborted sudden cardiac death/sustained ventricular tachycardia (3%), ECG (46%) or echocardiographic abnormality (36%), positive family history of SCD or cardiomyopathy (CMP) (3%), or athletes' complaints (31%). Structural myocardial abnormalities were confirmed in 99 athletes: hypertrophic (HCM) in 27, arrhythmogenic (AC) in 11, dilated (DCM) CMP in 7, and left ventricular non-compaction (LVNC) in 9 cases. MR images consistent with Fabry disease were found in 5 patients. We have discovered post-myocardial infarction scars in 10 cases, and atypical non-ischemic scarring (excluding hinge point fibrosis) was observed in 32 athletes. Besides pathological abnormalities, minor alterations were identified in 76 patients. Among the athletes examined after aborted sudden cardiac death/sustained ventricular tachycardia (n=18), we found structural heart disease in 14 patients, AC was confirmed in 7, HCM in two, non-ischemic fibrosis in three cases and LVNC in one athlete. Cardiogenetic test was performed in 26 athletes, we found pathogenic or likely pathogenic mutations in 5 cases, typical of HCM, AC, DCM (MYBPC3, PKP2, LMNA, TTN). The genetic test showed VUS (variant of unknown significance) in 15 additional athletes. Conclusions HCM was identified as the most frequent CMP, whereas AC and nonischaemic scar was the leading cause of SCD or SVT in our athletes.Figure A)Short axis late gadolinium ehancement CMR image of a 26-year-old female tennis player with hypertrophic cardiomyopathy and nonischemic fibrosis (arrow) and MYBPC3 pathogenic variant.Figure B)Short axis late gadolinium enhancement CMR image of a 40-year-old male elite discus thrower with sustained ventricular tacchycardia and nonischaemic scar formation (arrows). LMNA and titin pathogenic variants could be detected.

A comprehensive CMR analysis improves risk stratification in left ventricular noncompaction

Abstract Background Left ventricular noncompaction (LVNC) is a heterogeneous and controversial entity. Risk assessment by cardiovascular magnetic resonance (CMR) remains poorly defined. Purpose To develop a CMR prediction model of major adverse cardiovascular events (MACE) in LVNC. Methods We conducted a retrospective longitudinal multicentre cohort study of LVNC patients with core-lab CMR analysis. The endpoint was a composite of MACE: heart failure, ventricular arrhythmias, systemic embolisms and all-cause death. The effect of variables on the endpoint was analysed by Cox regression and variables were dichotomized according to their association with the outcome. Three sequential prediction models were developed: a "traditional model" based on LV ejection fraction (LVEF); a "clinical model" based on daily-practice CMR variables (e.g.: LVEF, right ventricular (RV) EF, and late gadolinium enhancement (LGE)); and a "research model" including advanced parameters (e.g.: global longitudinal strain (GLS) and hemodynamic forces (HDF)). The best prediction models were chosen based on C-statistic and Akaike information criterion (AIC). A risk score was developed based on the third model, and according to proportional hazard ratios. Results A total of 348 patients were included, age was 46 (19) years and 150 (43%) were female. LVEF was 48 (14) % and 32 (10%) had LGE. During a median follow-up of 3.9 (1.8-6.1) years, 54 (16%) patients developed MACE: 27 (8%) heart failure, 32 (9%) ventricular arrhythmias, 2 (1%) systemic embolisms and 6 (2%) deaths. Figure 1 shows the association of the main CMR variables with the endpoint. The "traditional model" (dichotomic LVEF with cut-off point at 40%) had an AUC of 0.71 (95% CI: 0.64-0.78). The best "clinical model" was a combination of LVEF, RVEF (cut-off point 35%), left atrium (LA) volume index (cut-off point 53 mL/m2) and percentage of LGE mass (LGE%, cut-off point 5%), with an AUC of 0.77 (95% CI: 0.70-0.85; p=0.006 compared to the first model). The best "research model" included LVEF, RVEF, LGE%, LA GLS (two cut-off points 17% and 28%), and lateral-septal HDF (cut-off point 3%), with an AUC of 0.85 (95% CI: 0.80-0.90; p=0.007 compared to the second model) (Figure 2a). Subsequently, a risk score was developed: 1 point was assigned to LVEF&amp;lt;40%, RVEF&amp;lt;35%, LGE% &amp;gt;5% and LA-GLS &amp;lt;28%, 2 points to LA-GLS &amp;lt;17% and 4 points to HDF&amp;lt;3%. The score was accurate at identifying both low- (0-4 points), intermediate- (5-7 points) and high-risk (8-9 points) patients (Figure 2b). Conclusions A comprehensive CMR evaluation in LVNC allows for precise risk stratification. Our proposed prediction model could be used to individualise patients’ management, which might improve long-term outcomes.CMR characteristics according to MACEPrediction models of MACE and risk score