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Left Ventricular Non Compaction (LVNC) is considered a unique cardiomyopathy according to the American Heart Association guidelines. The genetic ethology of LVNC in children is not completely understood although upto 41% of LVNC are thought to be genetic. We report a family with LVNC due to a novel mutation in the MYH 7 gene.

BackgroundIt is widely perceived that the value of physical examination in paediatric cardiology has diminished with the increasing availability of echocardiography. The accuracy of physical examination of cardiovascular system in children has not been systematically tested.MethodsThis is a cross-sectional, diagnostic accuracy study from the paediatric cardiology clinic of a tertiary referral hospital in South India. A total of 545 children with 5 common cardiac conditions were included—normal heart, atrial septal defect, patent ductus arteriosus, ventricular septal defect (VSD) and VSD with pulmonic stenosis. Physical examination was documented by a paediatric cardiology fellow and a consultant who were blinded to previous investigations and to each other. The accuracy of physical examination of the fellow and the consultant was determined for each patient group by comparing with echocardiography. Interobserver agreement was calculated using kappa statistics.ResultsPhysical examination differentiated normal hearts from abnormal with an accuracy of 95.0% for fellows and 96.3% for consultants. For all abnormal hearts, the results for fellows and consultants, respectively, were as follows: sensitivity: 94.3%, 94.9%, specificity: 96.2%, 98.6%, accuracy: 95.0%, 96.3%, positive likelihood ratio: 24.8, 66.4 and negative likelihood ratio: 0.06, 0.05. There was good agreement between fellows and consultant for all patient groups (kappa: 0.72–1), except for large VSD (kappa: 0.232). Younger age and haemodynamically insignificant lesions were associated with incorrect diagnosis.ConclusionThis study underscores the utility of clinical examination in initial screening for commonly encountered congenital cardiac conditions even in the current era of echocardiography.

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