Left Ventricular Noncompaction Cardiomyopathy

摘要: Abstract Left ventricular noncompaction (LVNC), a classified form of cardiomyopathy, is genetic disease characterized by excessive and unusual trabeculations within the mature left ventricle (LV). LVNC has been considered to be developmental failure heart fully compact myocardium during later stages cardiac development. Clinically pathologically, spongy morphological appearance occurring primarily in LV with abnormal typically being most evident apical midlateral–inferior portions LV. The right (RV) may also affected alone or conjunction In LVNC, addition regional presence prominent trabeculae intertrabecular recesses LV, thickening two distinct layers composed compacted noncompacted classically noted. It associated dilation hypertrophy, systolic and/or diastolic dysfunction, atrial enlargement, various forms congenital disease. demonstrate normal function; size, thickness, function change unexpectedly (“undulating phenotype”). Affected individuals are at risk failure, both. Heart symptoms can exercise-induced persistent rest, but many patients asymptomatic. Chronically treated sometimes present acutely decompensated failure. Other life-threatening risks arrhythmias atrioventricular block, presenting clinically as syncope, sudden death. Genetic inheritance arises least 30%–50% patients, thought occur approximately 1 per 7000 live births. occurs newborns, young children, adults, worst reported outcomes seen infants, particularly those systemic metabolic derangement. some families, consistent phenotype relatives quite commonly features found families where other have typical hypertrophic dilated restrictive cardiomyopathy. Mutations ∼15 genes implicated include cytoskeletal, sarcomeric, ion channel genes, sarcomere-encoding common. case disease, disturbance Notch Wnt signaling pathways appear part “final common pathway” for this addition, disrupted mitochondrial abnormalities causal role well. Treatments focus on improvement efficiency reduction mechanical stress dysfunction. Further, arrhythmia therapy implantation an automatic implantable cardioverter–defibrillator (ICD) prevention death mainstays treatment when deemed necessary appropriate. Patients require surgical catheter-based interventions. Despite progress diagnosis over past 10–15 years, understanding disorder continue need further improvement.