1.
Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.
Wang, SB, Weng, WC, Lee, NC, Hwu, WL, Fan, PC, Lee, WT
Pediatrics and neonatology. 2008;(4):145-9
Abstract
Mutation of mitochondrial DNA (mtDNA) G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and Leigh syndrome. Wolff-Parkinson-White (WPW) syndrome and optic atrophy were reported in a high proportion of patients with this mutation. We report an 18-month-old girl, with an 11-month history of psychomotor regression who was diagnosed with WPW syndrome and hypertrophic cardiomyopathy, in association with Leigh syndrome. Supplementation with coenzyme Q10, thiamine and carnitine prevented further regression in gross motor function but the patient's heart function deteriorated and dilated cardiomyopathy developed 11 months later. She was found to have a mutation of mtDNA G13513A. We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy, and serial heart function monitoring by echocardiography is recommended in this group of patients.
2.
A case of hypereosinophilic cardiomyopathy: additional value of the myocardial contrast agent SonoVue for the differential diagnosis of a cardiac mass.
D'Errico, A, Galderisi, M, Pollio, G, Catalano, L, Rotoli, B, de Divitiis, O
Italian heart journal : official journal of the Italian Federation of Cardiology. 2003;(8):571-4
Abstract
We describe the case of a 37-year-old male referred because of hypereosinophilia associated with dyspnea. Transthoracic harmonic echocardiography showed an extensive myocardial infiltration and highlighted an intraventricular "in plus" image, whose characteristics were compatible with a diagnosis of intracardiac thrombus. The use of the myocardial contrast agent SonoVue (1 ml in bolus i.v. and 4 ml at an infusion velocity of 2 ml/min) allowed us to immediately identify, during left ventricular chamber opacification, the exact endocardial border of the left ventricular cavity and, later (when the residual SonoVue was evident only at the level of the myocardial walls), the true characteristics of the "in plus" image. This approach revealed the infiltration of the myocardial tissue and of both papillary muscles and chordae tendinae. The use of the myocardial contrast agent SonoVue may be, therefore, useful to distinguish the origin of "in plus" images often evident at echocardiography in the hypereosinophilic syndrome.