Heart transplantation in children with mitochondrial cardiomyopathy Genetic defects of mitochondrial energy supply can give rise to a variety of symptoms and virtually any organ or tissue can be involved. 1 In particular, cardiomyopathy can be the presenting symptom of a respiratory enzyme deficiency in infancy. Alternatively, cardiomy-opathy frequently occurs in the course of these diseases. 2...

We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techniques. The mother had surgery as a child for a cleft palate and a congenital heart defect, and her facial features were consistent with the diagnosis. The daughter had developmental delay, absent speech, scoliosis, and similar facial features, but no cleft ...

We present the case of a 45-year-old woman with recent onset of dipnea and atrial fibrillation. She was referred to our center for treatment of an associated ventricular septal defect. Echocardiography confirmed the presence of a membranous ventricular septal defect, but also showed signs of constriction. Cardiac computed tomography displayed a severe, diffuse calcified pericarditis. We show th...

Penetrating heart injuries can be lethal. Here we report a case of self-inflicted cardiac injury with glass fragments by a psychiatric patient. The patient presented with cardiogenic shock and was initially treated surgically for a large pneumothorax and cardiac tamponade. A few days later she presented with dyspnoea and hypotension. An echo-Doppler study was performed and an acquired post-trau...

We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS) and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia an...

Background For each congenital heart defect (CHD) knowledge of morphological and functional variations is crucial in order to assess an individual case and initiate specific therapy, if necessary. Specific data are widely lacking. CMR-based values exist only for left ventricular (LV) and right ventricular (RV) volumes of children and adults with normal anatomy. Therefore, we sought to provide v...

A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surger...

In 1979, we first reported occurrence of biventricular hypertrophy in the original normotensive Wistar-Kyoto (WKY) strain obtained from the National Heart, Lung, and Blood Institute, which was derived directly from the Kyoto laboratory of Okamoto. At that time, we recommended that both ventricles be weighted when WKY are studied so that invalid conclusions are not made. Because no paper confirm...

Coronary artery anomalies include the anomalies of origin, termination, and structure or course. Coronary artery fistulas (CAFs) are classified as the anomalies of termination and are considered a major congenital anomaly and are in the subgroup of acyanotic heart disease.1 • Atrial septal defect • Ventricular septal defect • Patent ductus arteriosus • Aortic stenosis • Pulmonary stenosis • Par...