Familial Isolated Noncompaction of the Ventricular Myocardium in Asymptomatic Phase

Abstract

Isolated noncompaction of the ventricular myocardium (INVM) is a rare cardiomyopathy resulting from a failure of normal endomyocardial embryogenesis and it has been categorized as a form of unclassified cardiomyopathy. The disorder is characterized by an excessively prominent trabecular meshwork with deep intertrabecular recesses. Although the disorder is sporadic, familial incidence may occur. Clinical symptoms and prognosis of INVM may differ markedly, and range from an asymptomatic course to a severe cardiac disability. The diagnostic method of choice for IVNM is echocardiography, which reveals multiple prominent trabeculations with deep intertrabecular spaces communicating with the left ventricular cavity in the middle and apical segments of the left ventricle. The authors report a case of INVM in a family in which three adult members (a brother and two sisters) were found to be affected by this disorder. They were all asymptomatic. The diagnosis of the disorder was made first in the 36-year-old brother by transthoracic echocardiography (TTE) and multidetector CT (MD CT), during the process of preoperative evaluation for surgical treatment of low back intervertebral herniated disc. TTE and MD CT showed similar and peculiar findings of INVM. Echocardiographic screening in all first-degree relatives of this patient, in order to identify asymptomatic patients, demonstrated INVM in two elder sisters.

Noncompaction of ventricular myocardium involving both ventricles

“…3 SLE related cardiac tamponade has generally a benign evolution with proper treatment. 4 Although pericardiocentesis associated with antiinflammatory drugs is the treatment of choice, surgery is indicated in some cases. In this report, we describe a young male in whom cardiac tamponade secondary to localized pericardial effusion was surgically treated and the diagnosis of SLE was established.…”

Multidisciplinary Diagnostic Approach for Left Ventricular Hypertrabeculation/Noncompaction

“…It is stated that LVHT is an "extremely rare disorder" 1. However, in our experience LVHT is more prevalent than previously thought particularly if asymptomatic relatives of patients with proven LVHT also undergo cardiac examinations.…”

“…In light of recent reports about patients in whom LVHT developed during their lifetimes,2,3 we regard discussing LVHT as a "congenital form of cardiomyopathy"1 as unjustified. Though LVHT appears to be congenital in the majority of cases, particularly in cases involving children and young adults, it is verifiably acquired in single cases 2,3.…”

“…The report on three patients with asymptomatic left ventricular hypertrabeculation/noncompaction (LVHT) by Koh et al1 is stimulating but also raised the following concerns.…”

Author Reply

“…As we have stated, INVM is a rare congenital form of cardiomyopathy resulting from an intrauterine arrest in the normal process of trabecular compaction of the myocardium 1. The incidence of INVM, referred to also as "persistent endomyocardial sinusoidal myocardium", "spongy myocardium", or "left ventricular hypertrabeculation" is sporadic; however in some patients it may be due to chromosomal abnormalities and familial incidence may occur 2-7. LVHT is frequently found in patients with neuromuscular disorders 8.…”