cardiovascular disorders
Non Compaction Cardiomyopathy
Introduction
Non-compaction cardiomyopathy is a congenital disorder of the myocardium causing cardiomyopathy, a variety of arrhythmias, conduction disorders, and increased risk of sudden death. Diagnosis includes ECG, cardiac imaging, and genetic testing. Treatment is usually an implantable cardioverter-defibrillator (ICD), antiarrhythmic drugs, and standard measures for heart failure. (See also Overview of Arrhythmogenic Cardiomyopathies and Non-compaction cardiomyopathy is a rare (1 in 7000) cardiomyopathy resulting from failure of the embryonic ventricular myocardial compaction process, such that the ventricular myocardium consists of an outer layer of normally compact myocardium and an inner non-compacted layer that has retained embryonal characteristics. The inner layer is spongy and markedly trabeculated with deep intertrabecular recesses usually most prominent at the left ventricular apex, then elsewhere in the left ventricle, and least commonly in the right ventricle. Although there are likely acquired cases, most cases result from inherited mutations in genes encoding sarcomeric proteins, cytoskeletal proteins, or mitochondrial proteins. Inherited cases are most commonly autosomal dominant or X-linked. In non-compaction cardiomyopathy, the disordered myocardial architecture and associated microvascular abnormalities lead to myocardial fibrosis. The fibrosis predisposes to both systolic and diastolic Heart Failure (HF) and to ventricular tachyarrhythmias, cardiac arrest, and sudden death. The deep intertrabecular recesses produce areas of blood flow stasis predisposing to thromboembolic events, including Patients may be asymptomatic. Initial symptoms are usually those of heart failure (eg, exertional dyspnea, fatigue, peripheral edema) although some patients present with symptoms of heart blocks and/or arrhythmias, including palpitations and/or syncope, or sometimes cardiac arrest. Ventricular tachyarrhythmias may be triggered by exercise. 