Left ventricular noncompaction (LVNC) is a heterogeneous cardiomyopathy that can be classified into different subtypes based on morphologic and functional features. However, the prognosis of the dilated and isolated subtypes of non-pediatric LVNC remains unknown. We retrospectively studied 101 patients with LVNC diagnosed at Peking Union Medical College Hospital from 2006 to 2022 using the Jenni criteria of transthoracic echocardiography. The patients were grouped into those with dilated LVNC (n = 64) or isolated LVNC (n = 37), and 88 patients (54 with dilated LVNC and 34 with isolated LVNC) were followed up successfully. The primary outcome was major adverse cardiovascular events (a composite of cardiovascular mortality, heart failure, severe ventricular arrhythmia, and systolic embolism). The median follow-up time was 5.24 years. The incidence of major adverse cardiovascular events was 43.2%; patients with dilated LVNC had a higher risk (adjusted hazard ratio, 4.43; 95% confidence interval, 1.24-15.81; p = 0.02) than those with isolated LVNC. None of the isolated LVNC patients had cardiovascular deaths or severe ventricular arrhythmias. The risk of systemic embolism was similar between patients with dilated and isolated LVNC. Our findings indicate that transthoracic echocardiography is a useful tool for classifying LVNC into subtypes with distinct clinical outcomes. Dilated LVNC is associated with a poor prognosis, while the isolated subtype is probably a physiological condition.

Left ventricular noncompaction (LVNC) is a specific type of cardiomyopathy characterized by coarse trabeculae and interspersed trabecular crypts within the ventricles. Clinical presentation varies widely and may be nonsignificant or may present with progressive heart failure, malignant arrhythmias, and multiorgan embolism. The mode of inheritance is highly heterogeneous but is most commonly autosomal dominant. The TTN gene encodes titin, which is not only an elastic component of muscle contraction but also mediates multiple signalling pathways in striated muscle cells. In recent years, mutations in the TTN gene have been found to be associated with LVNC, but the exact pathogenesis is still not fully clarified.
In this article, we report a case of an adult LVNC patient with a TTN gene variant, c.87857G > A (p. Trp29286*), that has not been reported previously. This 43-year-old adult male was hospitalized repeatedly for heart failure. Echocardiography showed reduced myocardial contractility, dilated left ventricle with many prominent trabeculae, and a loose texture of the left ventricular layer of myocardium with crypt-like changes. During the out-of-hospital follow-up, the patient had no significant signs or symptoms of discomfort.
This case report enriches the mutational spectrum of the TTN gene in LVNC and provides a basis for genetic counselling and treatment of this patient. Clinicians should improve their understanding of LVNC, focusing on exploring its pathogenesis and genetic characteristics to provide new directions for future diagnosis and treatment.

UNASSIGNED: Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by excessive trabecular formation and deep recesses in the ventricular wall, with a bilaminar structure consisting of an endocardial noncompaction layer and an epicardial compacted layer. Although genetic variants have been reported in patients with LVNC, understanding of LVNC and its pathogenesis has not yet been fully elucidated. We addressed the latest findings on genes reported to be associated with LVNC morphogenesis and possible pathologies to understand the diverse spectrum between genotype and phenotype in LVNC. Also, the latest findings and issues related to the diagnosis of LVNC were summarized.
UNASSIGNED: This article is written as a commentary narrative review and will provide an update on the current literature and available data on common forms of LVNC published in the past 30 years in English through to May 2022 using PubMed.
UNASSIGNED: Familial forms of LVNC are frequent, and autosomal dominant mode of inheritance has been predominantly observed. Several of the candidate causative genes are also mutated in other cardiomyopathies, suggesting a possible shared molecular and/or cellular etiology. The most common gene functions were sarcomere function whereas genes in mice LVNC models were involved in heart development. Echocardiography and cardiac magnetic resonance imaging (CMR) are useful for diagnosis although there are no unified criteria due to overdiagnosis of imaging, poor consistency between techniques, and lack of association between trabecular severity and adverse clinical outcomes.
UNASSIGNED: This review reflects the current lack of clarity regarding the pathogenesis and significance of LVNC and showed the complexity of imaging diagnostic criteria, interpretation of the role of LVNC as a cause, and uncertainty regarding the specific genetic basis of LVNC.

Left ventricular noncompaction (LVNC) is a particular type of cardiomyopathy with an excessively prominent trabecular meshwork and deep intertrabecular recesses in the left ventricle (LV). The clinical manifestation of LVNC is highly variable, ranging from no symptom to congestive heart failure, arrhythmia, thrombosis, and potentially sudden cardiac death. Approximately half of LVNC cases are hereditary. TBX20 is expressed in human embryonic and vertebrate hearts. In this article, we report on a case of pediatric LVNC with a novel de novo TBX20 [c.859C>T, p.(Arg287Trp)] gene variant, which appears to be pathogenic and had not been previously reported in LVNC. The 6-year-old girl was admitted to our hospital for unexplained syncope. 2D-echocardiography revealed a dilated LV with numerous prominent trabeculations, and a two-layered structure, comprising a compacted thin epicardial band and a thicker non-compacted endocardial layer, with deep endomyocardial spaces and intertrabecular recesses in LV. During the follow-up, the child has not shown any obvious clinical signs or symptoms. In this case report, the de novo variant of TBX20 in LVNC expands the spectrum of variants that cause LVNC and contributes to the genetic counseling and individualized treatment of patients. Clinicians should focus on exploring the clinical and genetic characteristics of LVNC to provide therapies and follow-up to improve the outcome.

Pulmonary artery banding (PAB) may reduce the need for left ventricular assist devices and heart transplantation in children with end-stage heart failure. However, excessive banding may increase the right ventricular afterload, leading to worsening of heart failure. The estimated right ventricular pressure and the shifting of the interventricular septum by transesophageal echocardiography (TEE), pulmonary artery pressure, right atrial and ventricular pressure, percutaneous oxygen saturation, and mixed venous oxygen saturation are utilized to determine the optimal circumference for PAB. Here, we report the case of a 5-month-old patient with end-stage heart failure due to left ventricular noncompaction cardiomyopathy (LVNC), with a gene mutation of MYH7, who underwent successful PAB. The exact PAB placement was additionally guided by using cerebral regional oxygen saturation (rSO2) measurement to achieve a tolerable and optimal PAB effect. We monitored rSO2 and other hemodynamic parameters while surgeons banded the pulmonary artery to achieve both highest rSO2 levels and stable hemodynamics. rSO2 was 68% before banding, and increased and remained at over 90% after the banding at same FiO2. Patient\'s heart failure improved gradually, and the child was discharged home at 6 months after PAB. The rSO2 is a simple and non-invasive monitor for the measurement of oxygen delivery to the brain tissue. rSO2 alone would not be able to guide PAB placement in the vulnerable DCM patients, but it may be of one further monitoring value for the optimal pulmonary artery circumference while patients are undergoing PAB.

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