Interní Med. 2015; 17(1): 31-34

Noncompation cardiomyopathy - a rare cause of heart failure

MUDr.Kateřina Vrkočová¹, MUDr.Jana Rudolecká¹, MUDr.Naděžda Petejová, Ph.D.², MUDr.Pavlína Plevová, Ph.D.³

¹ Kardiovaskulární oddělení, FN Ostrava Poruba

² Interní klinika FN Ostrava Poruba

³ Oddělení klinické genetiky FN Ostrava Poruba

Noncompaction of the ventricular myocardium is a rare disease manifested by heart failure, cardioembolic events and severe arrhythmias.

Echocardiography is the examination method of choice. The case report presents a 8-month follow-up of a 65-year-old male suffering

from an isolated form of noncompaction cardiomyopathy with heart failure and severe ventricular arrhythmia.

Introduction: Left ventricular noncompaction (LVNC) is a relatively new type of cardiomyopathy, listed among unclassified cardiomyopathies

by the World Health Organization in 1995 (1). This entity was previously described as persistent intramyocardial sinusoids. One

of the first mentions of LVNC is a 1975 study by Czech authors (2). The prevalence of LVNC varies in individual studies, ranging from

0.014 % to 0.05 % in sporadic and familial forms, with a male predominance of 56 % to 82 % (3, 4, 5). The genetic basis of the disease is

still a matter of research. A 2000 study of 34 patients showed an 18 % familial incidence (4). So far, the autosomal dominant X-linked

and mitochondrial pattern of inheritance has been confirmed in the disease. The prognosis is rather poor. In a 1997 study of 17 patients,

M. Ritter et al. reported 59 % death rate or need for heart transplantation within six years of diagnosis (5).

From a pathological-anatomical point of view, LVNC is characterized by prominent myocardial trabeculation, with deep recesses communicating

with the heart cavity (3).

It was first reported in association with other congenital anomalies, such as ventricular outflow tract obstruction, and in a group of

cyanotic congenital heart defects leading to pressure overload trabecular hypertrophy (2, 5). In the absence of the above pathological

conditions, isolated ventricular noncompaction (IVNC) is present (3).

Clinically, IVNC is mainly manifested by congestive heart failure, arrhythmias and cardioembolic events (3, 5).

The etiopathogenesis of IVNC is explained by an arrest in the embryogenesis of the endocardium and myocardium between weeks 5 and

8 of intrauterine fetal life. This is when in healthy hearts, the intramyocardial sinusoids are reduced to capillaries [5]. The pathogenesis of ventricular dilatation and dysfunction, as well as of intramyocardial fibrosis as seen in histological samples, is explained by impaired

myocardial perfusion in pathological capillary supply (6, 7).

The method of choice in the diagnosis of this, rare disease is echocardiography. However, its use is limited by the fact that the disease

may be mistaken for other myocardial disorders, especially hypertrophic cardiomyopathy (7).

Keywords: noncompaction cardiomyopathy, heart failure, prominent trabeculation

Published: February 27, 2015  Show citation