C16 NONCOMPACTION OF VENTRICULAR MYOCARDIUM AND X–LINKED RECESSIVE ICHTYOSIS

Abstract Noncompact left ventricle is a rare congenital cardiomyopathy characterized by numerous ventricular trabeculae separated deep intertrabecular recesses. It can occur in isolation or association with neuromuscular disorders and heart defects. The cause not known but it thought to be due the arrest of normal maturation process myocardium. Among responsible mutations are taffazzine, ZASP distrobrevin. manifest as dilatation dysfunction, arrhythmias, thromboembolic events, sepsis. echocardiogram investigation first choice. Magnetic resonance allows you more precisely distinguish compact non–compact layers, thrombi myocardial fibrosis. Clinical case A 19–year–old patient came for syncope. She presented midfacial hypoplasia, cupped ears, synophrium, high palate, ichthyosis, small hands, scarring from Achilles tendon lengthening. denied family history cardiovascular disease sudden cardiac death. Karyotype analysis showed karyotype 46Y, –X, + der t (X; Y) (p22.2; q11.1), chromosome derived X;Y translocation (a feature already mother several maternal relatives ). Coronary angiography, electroencephalogram brain MRI were within limits. Echocardiogram myocardium at apex mild dysfunction areas anterior posterior dyssynergia (Fig. 1). ECG QRS voltages. Holter supraventricular extrasystoles even pairs runs, PVCs, nocturnal pauses up 3 seconds. underwent genetic screening NGS sarcomeric which resulted negative. Subsequent deletion two chromosomal regions that could interpreted pathogenic (chromosomal region Xp22.33 containing SHOX gene involving deleted locus Leri–Weill dyschondrosteosis Xp22.33p22.31 STS X–linked recessive ichthyosis) duplication Yq11.221q11.23 uncertain significance. Conclusions After review scientific literature, illustrated complex represents new finding, worthy being explored genetically affected patients.