Non-compaction cardiomyopathy

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Classification according to ICD-10
ICD I42.8 Other cardiomyopathies
ICD-10 online (WHO version 2019)

( Isolated ) Non-Compaction Cardiomyopathy (NCCM, synonymous Isolated Noncompaction of Ventricular Myocardium , INVM) is a rare, genetically determined disorder of the myocardial compression (primary cardiomyopathy ) during embryonic organ development, which was first described in 1984. The clinical picture includes signs of heart failure , cardiac arrhythmias and complications from thromboembolism . The diagnosis is made using echocardiography or magnetic resonance imaging. Treatment is symptomatic; causal therapy is not possible.

Echocardiographic representation of multiple trabeculae in the left ventricle (LV)

Emergence

In the 5th to 8th week of pregnancy, the human heart goes through a process of tissue compression, during which tissue bridges (trabeculae) and niches (recessus) in the heart muscle tissue recede and the muscle (the myocardium ) compacts. A disruption in this complex process is postulated as the pathogenetic cause of non-compaction cardiomyopathy. Separation (dissection) of the myocardium, tears or metabolic disorders of the tissue are also discussed. The heart muscle is swollen like a sponge.

Both sporadic occurrences and familial clusters (up to 40%) have been described. Various mutations of the gene tafazzin ( Xq28 ), an enzyme of the cardiolipin metabolism, could be detected. In addition to these x-linked mutations (see also Barth syndrome ), autosomal dominant inheritance of other proteins ( dystrobrevin (DTAN), LIM domain binding proteins and sarcomere proteins) are also described.

The irregular muscle structure leads to regional undersupply ( microcirculation disorders ) and fibrosis of the muscle, which results in the development of heart failure and electrical conduction disorders . The turbulent disturbance of the blood flow (cf. Virchow's triad ) causes thrombus formation.

frequency

The clinical picture is probably not recognized in many cases. The incidence in the population is estimated at 0.05-0.25%, but is ultimately unclear. NCCM is the third most common primary cardiomyopathy in children (after dilated and hypertrophic CM).

Clinical picture

The clinical appearance is dominated by heart failure (cardiac insufficiency). The onset of the complaint is very variable, but is usually mid-life. Embolic complications ( TIA , stroke, etc.) occur more frequently. Various, mostly unspecific rhythm disturbances (ST segment and T wave changes, bundle branch blocks , tachycardias , atrial fibrillation , WPW syndrome ) can occur in the ECG .

diagnosis

The diagnosis of choice is cardiac ultrasound examination ( echocardiography ). Diagnostic criteria of the NCCM have been defined. Cardio-MRT ( magnetic resonance imaging ) is an alternative . A cut-off ratio of> 2.3 between non-compact myocardium and compact myocardium is considered. The laboratory parameters of cardiac diagnostics are generally normal. Screening examinations of the families are recommended because of possible familial accumulation.

Treatment and prognosis

Treatment is symptom-oriented. In the case of persistent tachycardia and other arrhythmias, an ICD implantation can be useful, which is also recommended by the American Heart Association for primary prophylaxis . In the case of atrial fibrillation, impaired left ventricular function and proven thrombi in the heart, anti-coagulation treatment ( anticoagulation ) is indicated. Cases of heart transplants have been reported.

The data on the forecast is incomplete. While it tends to be favorable in asymptomatic patients, it is serious in the clinical occurrence of NCCM. Sedaghat-Hamedani et al. have shown that the LVNC patients with heart failure have a poorer prognosis compared to patients with dilated cardiomyopathy (DCM).

literature

Individual evidence

  1. ^ R. Engberding, F. Bender: Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids. In: Am J Cardiol. 1984 PMID 6731322 .
  2. ↑ Sedaghat-Hamedani F, Haas J, Zhu F, Geier C, Kayvanpour E, Liss M, Lai A, Frese K, Pribe-Wolferts R, Amr A, Li DT, Shirvani Samani O, Carstensen A, Huang K, Zeng Q , Cheng L, Fehlmann T, Ehlermann Ph, Keller A, Dieterich C, Streckfuß-Bömeke K, Liao Y, Gotthardt M, Katus HA, Meder B: Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy . In: European Heart Journal . August. doi : 10.1093 / eurheartj / ehx545 . PMID 29029073 .

Web links

Commons : Left ventricular non-compaction  - collection of images, videos and audio files