Callosal agenesis and left ventricular hypertrabeculationoncompaction.

摘要

With interest we read the article by Lamonica et al. [2009] about a boy with nonisolated left ventricular hypertrabeculation/ noncompaction (LVHT) who additionally presented with partial callosal agenesis, developmental delay, and pilomatricoma, the article evokes the following concerns. The association of LVHT and extra-cardio-pulmonary abnormalities is not rare but frequent. For example, LVHT occurs in up to 50% of the patients with Barth syndrome, which is phenotypically characterized by mitochondrial myopathy and neutropenia in addition to LVHT [Bleyl et al., 1997]; LVHT is also associated with neuromuscular disorders (NMDs) in up to 80% of the cases, making the muscle the most frequently additionally affected organ [Stollberger et al., 2002]. NMDs most frequently associated with LVHT are mitochondrial disorders, zaspopathy (cypherZASP/ LDB3), myotonic dystrophy type 1 (DMPK), dystrobrevinopathy (DTNA), dystrophinopathy (DMD), Emery-Dreifuss muscular dystrophy (LMNA), myotonic dystrophy type 2 (ZNF9), and MADA deficiency (GAA). Other monogenic disorders in which LVHT has been described include hypertrophic and dilated cardiomyopathy, sick-sinus-syndrome, long-QT syndrome, Melnick-Fraser syndrome, Noonan syndrome, MIDAS syndrome, CMT1A, Beals-Hecht syndrome, Leopard syndrome, cobalamin C deficiency, nail-patella syndrome, and congenital adrenal hypo-plasia [Finsterer, 2009].