(non-compaction cardiomyopathy, left ventricular hypertrabeculation)

Rare:  prevalence of ± 0.014 % amongst the patients undergoing an echocardiography. It accounts for about 9 % of cardiomyopathies in children. A wrong diagnosis of dilated cardiomyopathy is often made. It is named as 'Unclassified cardiomyopathy' by the WHO (World Health Organization) and as 'Primitive cardiomyopathy' by the AHA (American Heart Association). The myocardium has a spongy  and hypertrabeculated appearance at echography: the endocardium has a hypertrabeculed aspect with intertrabecular recessus that communicate with the ventricular cavity. The fetal heart cavity is initially filled with a network of cardiomyocytic fibres  and trabeculae in which blood circulates: the process of compaction of this network normally progresses from the epicardium to the endocardium and from the base to the apex during the formation of the heart chambers. It normally takes place between the 6th and the 8th week of gestation. Its absence produces this cardiomyopathy.

There are family forms:

-   type 1 [MIM 604 169]:        autosomal dominant transmission of a mutation of the DTNA gene (18q12.1) coding for alpha-dystrobrevin

-   type 2 [MIM 609 470]:        a mutation of a gene (11q15)

-   type 3 [MIM 601,493]:        autosomal dominant transmission of a mutation of the LDB3 gene  (10q23.2)

-   type 4 [MIM 613 424]:        autosomal dominant transmission of a mutation of the ACTC1 gene (15q14) coding for cardiac alpha actin

-   type 5 [MIM 613 426]:        autosomal dominant transmission of a mutation of the MYH7 gene (14q11.2) coding for myosin heavy chain 7

-   type 6 [MIM 601 494]:        autosomal dominant transmission of a mutation of the TNNT2 gene (1q32.1) coding for cardiac troponin T

-   type 7 [MIM 615,092]:        autosomal dominant transmission of a mutation of the MIB1 gene (18q11.2)

-   type 8 [MIM 615,373]:        autosomal dominant transmission of a mutation of the PRDM16 gene (1p36.32)

-   type 9 [MIM 611 878]:        autosomal dominant transmission of a mutation of the TPM1 gene (15q22.2)coding for tropomyosin 1

-   type 10 [MIM 615 396]:        autosomal dominant transmission of a mutation of the MYBPC3 gene (11p11.2)

-   and an X-linked form (Barth syndrome) [MIM 302,060]: mutation of the TAZ gene (Xq28) coding for tafazzin involved
in the cardiolipin metabolism; it is associated with neutropenia and mitochondrial abnormalities.

This cardiomyopathy can also be combined with:

-        a congenital heart disease: ALCAPA,  Ebstein malformation, cyanotic heart disease

-        a metabolic or genetic condition: myopathy of Duchenne or Becker, trisomy 21, propionic acidemia,  Pompe glycogenosis, Brugada syndrome (linked to a mutation of channel K4 or Na5)

The clinical presentation is nonspecific: ventricular rhythm disturbances (risk of ventricular tachycardia and sudden death), syncope, heart failure, thromboembolic events; sometimes  Wolf-Parkinson-White syndrome in childhood.

ECG: biventricular hypertrophy, disorders of atrioventricular conduction, WPW.

Echocardiography: numerous trabeculae (> 3) at the level of the apex and or the free wall of the left ventricle. The myocardium presents with two layers, a large one, compacted, and the smaller one, non-compacted: a non-compacted/compacted ratio > 2 adults and > 1.4 in childhood (see the yellow arrows in the figure) is pathologic.

Treatment: symptomatic, depending on the clinical findings and the associated cardiac or muscle  pathology. An internal defibrillator is sometimes necessary. In infants, the prognosis is bad (< 18 months of survival without transplantation) if hemodynamic instability, left ventricular dilation, or poor ventricular function are present at the time of diagnosis.

Anesthetic implications:

nothing special in patients who have no signs of heart failure; recent preoperative echocardiography, possibly transesophageal intraoperative echography if symptoms of cardiac failure are present; risk of ventricular arrhythmias; the associated heart or muscle pathology should be taken in account; thromboembolic risk.

References : 

-        Batisse A, Fermont L, Lévy M
Cardiopathie par dysfonction myocardique.
In Cardiologie pédiatrique pratique, 4ème éd. Doin, 2013, p 187-93.

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Updated: August 2022