CLINICAL APPROACH TO GENETIC CARDIOMYOPATHY IN CHILDREN

Background Cardiomyopathy(CM) remains one of the leading cardiac cause s of death in children, although in the majority of cases, the cause i s unknown. To have an impact on morbidity and mortality, attention mus t shift to etiology-specific treatments. The diagnostic evaluation of children with CM of genetic origin is complicated by the large number of rare genetic causes, the broad range of clinical presentations, and the array of specialized diagnostic tests and biochemical assays. Met hods and Results We present a multidisciplinary diagnostic approach to pediatric CM of genetic etiology. We specify criteria for abnormal le ft ventricular systolic performance and structure that suggest CM base d on established normal echocardiographic measurements and list other indications to consider an evaluation for CM. We provide a differentia l diagnosis of genetic conditions associated with CM, classified as in born errors of metabolism, malformation syndromes, neuromuscular dis-e ases, and familial isolated CM disorders. A diagnostic strategy is off ered that is based on the clinical presentation: biochemical abnormali ties, encephalopathy, dysmorphic features or multiple malformations, n euromuscular disease, apparently isolated CM, and pathological specime n findings. Adjunctive treatment measures are recommended for severely ill patients in whom a metabolic cause of CM is suspected. A protocol is provided for the evaluation of moribund patients. Conclusions In s ummary, we hope to assist pediatric cardiologists and other subspecial ists in the evaluation of children with CM for a possible genetic caus e using a presentation-based approach. This should increase the percen tage of children with CM for whom a diagnosis can be established, with important implications cations for treatment, prognosis, and genetic counseling.