Noncompaction cardiomyopathy
As an ( isolated ) Non- compaction cardiomyopathy ( NCCM, synonymous Isolated noncompaction of ventricular myocardium, INVM ) is a rare genetic disorder of the heart muscle called compaction (primary cardiomyopathy) during embryonic organ development, which was first described in 1984. The clinical picture includes signs of heart failure, heart rhythm disorders and complications from Thrombemboliebildung. The diagnosis is made by echocardiography or magnetic resonance imaging. Treatment is symptomatic, a causal therapy is not possible.
Formation
The human heart by running in the 5th to 8th week of pregnancy, a process of Gewebsverdichtung, in which Gewebsbrücken ( trabeculae ) and niche ( recess ) of the heart muscle tissue to recede and the muscle ( the myocardium ) compacted. The pathogenetic cause of non- compaction cardiomyopathy is a disorder in this complex process is postulated. A separation ( dissection) of the myocardium, tearing or metabolic disorders of the fabric will be discussed. The heart muscle is distended like a sponge.
Have been described in both sporadic occurrence as well as familial clustering (up to 40 %). It could be different mutations of the gene Tafazzin ( Xq28 ), an enzyme of the cardiolipin metabolism demonstrated. In addition to these X-linked mutations bound are also described autosomal dominant inheritance of other proteins ( Dystrobrevin ( DTAN ), LIM - domain -binding proteins and sarcomeric proteins).
The irregular muscle structure leads to sub- regional supplies ( microcirculatory disturbances ) and fibrosis of the muscle, resulting in the development of heart failure and electrical line noise. Due to the turbulent disturbance of blood flow (see Virchow 's triad ) there will be a thrombus formation.
Frequency
The disease is probably not detected in many cases. The incidence in the population is estimated at 0.05 to 0.25 %, but is ultimately unclear. The NCCM in children (after dilated and hypertrophic CM) is the third most common primary cardiomyopathy.
Clinical picture
The clinical picture is dominated by the heart failure ( heart failure ). The complaint beginning is very variable, but is usually in mid-life. Embolic complications (TIA, etc.) occur in particular with simultaneous atrial fibrillation. The ECG diverse, mostly non-specific arrhythmias ( ST segment and T wave changes, bundle branch blocks, tachycardia, atrial fibrillation, WPW syndrome ) may occur.
Diagnosis
The diagnosis of choice is the heart ultrasound ( echocardiogram ). It diagnostic criteria for NCCM were defined. An alternative is the cardiac MRI represents (magnetic resonance imaging ), which is, however, fraught with artifacts due to cardiac motion. Laboratory parameters of cardiac diagnostics are normal in general. Because of possible family history screening examinations of the families are recommended.
Treatment and Prognosis
Treatment is symptomatic. In case of persistent tachycardia and other arrhythmias, an ICD implantation be useful, which is recommended by the American Heart Association and for primary prophylaxis. In atrial fibrillation, left ventricular dysfunction and proven thrombi in the heart of antiplatelet treatment ( anticoagulation ) is displayed. There are described cases of heart transplants.
The data regarding prognosis is incomplete. While it presents itself in asymptomatic patients rather than cheap, it is the clinical appearance of the NCCM seriously.