Isolated noncompaction of the myocardium

Abstract

We report the case of a 42-year-old female with fatigue on exertion and palpitation consequent to the existence of isolated noncompaction of the myocardium. We discuss clinical and familial findings, diagnostic possibilities, and prognostic and therapeutical implications of this rare disorder of endomyocardial morphogenesis.During the initial phase of embryonic development, the heart is a trabecular net with a spongy myocardium. The intertrabecular spaces communicate with the cardiac chambers. As the heart develops, the myocardium condenses and the intertrabecular recesses are reduced to capillaries. Trabecular compaction is usually more complete in the left ventricle than in the right ventricle. Noncompaction of the ventricular myocardium is defined as an anomaly of endomyocardial morphogenesis, and it is believed to be an arrest in the compaction of the myocardial fibers, which meet forming an interwoven loose net during intrauterine life. Persistence of the noncompaction of the myocardium is a rare entity, usually diagnosed in the pediatric population and associated with other structural congenital malformations of the heart. It predominates in patients with congenital obstruction of the right or left ventricle outflow tract [1][2][3][4] . Isolated noncompaction of the myocardium, defined by absence of any other associated structural cardiac alteration, is an even rarer form of the entity, with only a few reports in the literature [5][6][7][8] . Isolated noncompaction of the myocardium may be identified from childhood to adulthood. Its diagnosis may be delayed because of some findings resembling other clinical entities. Both sexes may be affected and familial recurrence may occur.We report the case of a 42-year-old female with isolated noncompaction of the myocardium, describing the clinical and familial history, diagnostic possibilities, and therapeutical approach. We also review the literature about this rare disorder of endomyocardial morphogenesis. Case reportA 42-year-old female complaining of fatigue on medium exertion, chest pain, and palpitation for 10 years was referred to our service to investigate arrhythmia. She reported loosing 2 children in the first year of life, one due to sudden death at the age of 5 months and the other due to refractory heart failure in the first week of life. The anatomicopathological study of the latter child performed in another service showed a dilated left ventricle with increased and abnormal trabeculation, whose final diagnosis, at the time, was cardiomyopathy of undetermined etiology. She also reported two siblings who had sudden death during childhood, and one uncle and one cousin, who died due to refractory congestive heart failure. The physical examination was normal. The 12-lead electrocardiogram showed sinus rhythm and deviation of the axis to the right in the frontal plane without meeting the criteria of left posteroinferior divisional heart block (figura 1A). Chest X-ray was normal. The exercise test showed depression of the ST segment associated with typical...

Isolated Ventricular Non-Compaction in Adults With Idiopathic Cardiomyopathy: Cardiac Magnetic Resonance and Pathologic Characterization of the Anomaly

“…2,4 The cardiac clinical presentation of isolated ventricular non-compaction varies from patients who are asymptomatic to patients who have severe left ventricular dysfunction, arrhythmias and thromboembolic events. 2,4,[5][6][7] Patients also may have a variety of noncardiac conditions, including neuromuscular disorders. 8 The diagnosis has been based on findings of Doppler 2-dimensional echocardiography (2D-echo) and cardiac magnetic resonance imaging (CMR), which can identify endomyocardial thickening and abnormal trabeculations.…”

Insuficiência cardíaca refratária em um paciente portador de miocárdio não compactado

“…We present a case of VMNC in a young patient, with refractory HF. In our country, there have been previous reports of the disease, but the presentation in these cases was as ventricular arrhythmias and not HF 8,9 . This case is special as it describes a case of refractory HF, which, due to the fact that the patient was submitted to a heart transplant, allowed us to directly observe the typical findings of the disease in the explanted heart.…”

Left Ventricular Noncompaction

“…28 The occurrence of thromboembolic events, including cerebrovascular accidents, transient ischemic attacks, pulmonary embolism, and mesenteric infarction, ranged from 21% to 38%. 29 Embolic complications may be related to development of thrombi in the extensively trabeculated ventricle, depressed systolic function, or the development of atrial fi brillation. 30 An association between noncompaction and neuromuscular disorders has also been described with as many as 82% of patients having some form of neuromuscular disorder.…”