Presentation, echocardiographic findings and long-term outcomes in children with familial dilated cardiomyopathy ☆ Robert G. Weintraub a, ⁎, Alan W. Nugent c , Andrew Davis a , Ingrid King a , Tara Bharucha a , Piers E.F. Daubeney b a Royal Children's Hospital, Melbourne and Murdoch Children's Research Institute, Australia b Royal Brompton Hospital and Imperial College, London, United Kingdom c University of Texas Southwestern Medical Center, Dallas, United States abstract article info Keywords: Dilated cardiomyopathy Pediatric Genetics Background: A potential genetic basis has been identified in around 30% of all childhood dilated cardiomyopathy (DCM). Despite this, the long-term outcomes for children with familial DCM have not been well characterized. This study examines the presentation, outcomes and echocardiographic findings for children with familial DCM enrolled in the National Australian Childhood Cardiomyopathy Study. Methods: NACCS is a longitudinal, population based study which includes all children aged 0–10 years who were diagnosed with primary cardiomyopathy between 1987 and 1996. Details of clinical status at diagnosis, medical therapy and late outcomes were recorded. Serial echocardiographic indices of LV size, fractional shortening and ejection fraction were expressed as Z scores, based on BSA and age. Familial cardiomyopathy was defined as the presence of an affected first or second degree relative with a similar cardiomyopathy. All available echocardiograms were interpreted by a single observer. Results: There were 175 subjects with DCM. Children with familial DCM (27 cases) were younger at diagnosis than those with sporadic DCM (median age 3.2 vs. 8.4 months (p = .004) and were less likely to have congestive heart failure and to be hospitalised at presentation (p ≤ .002 for both). Familial DCM subjects had a higher mortality (62.9% vs. 36.5%; p = .02) and were less likely to be free of medical therapy at latest follow-up (7.4% vs. 52.0%; p b .001). Echocardiographic measurements were similar at presentation but familial DCM subjects had a higher mean LVEDd Z score (4.15 vs. 2.25; p = .006) and a lower FS Z score (-7.35 vs. -3.40; p = .002) score at latest follow-up. Conclusions: Familial DCM subjects are younger and are less likely to have symptomatic heart failure at the time of diagnosis. Despite this they have a higher mortality and worse ventricular function at late follow-up. This study underlines the differing presentations and outcomes among children with familial and sporadic DCM. Crown Copyright © 2011 Published by Elsevier Ireland Ltd. All rights reserved. 1. Introduction Pediatric cardiomyopathies are an uncommon and heterogeneous group of disorders with worse than expected outcomes compared to children with congenital heart disease. They account for approxi- mately 50% of cardiac transplants performed worldwide in children beyond the first year of life [1], they are the commonest inherited form of heart disease [2] and the commonest cause of sudden death in healthy young adults [3]. Dilated cardiomyopathy is the commonest pediatric cardiomyop- athy, accounting for around 60% of all cases [4]. It has been estimated that between 20 and 50% of pediatric DCM is caused by genetic mutations, resulting in potential familial transmission [5]. Both cytoskeletal and sarcomeric proteins may be affected, with autosomal dominant, recessive and X-linked modes of inheritance described. In our national cohort study of childhood cardiomyopathy, familial DCM was identified as risk factor for death or transplantation, compared to children with sporadic DCM [6]. This review examines the presenting features, echocardiographic findings and long-term outcomes for enrolled subjects with familial DCM. 2. Methods The methods and epidemiologic findings from the National Australian Childhood Cardiomyopathy (NACCS) have been previously described [4]. NACCS is a population-based cohort study of all children Progress in Pediatric Cardiology 31 (2011) 119–122 ☆ Supported by grants from the Murdoch Children's Research Institute (Grant 98001), the National Heart Foundation of Australia (Grants G98M 0159, G04M 1586, G05M 2151 and G07M 3180), and the Australia and New Zealand Children's Heart Research Centre. ⁎ Corresponding author at: Department of Cardiology, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia. Tel.: +61 3 93455718; fax: +61 3 93456001. E-mail address: robert.weintraub@rch.org.au (R.G. Weintraub). 1058-9813/$ – see front matter. Crown Copyright © 2011 Published by Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ppedcard.2011.02.009 Contents lists available at ScienceDirect Progress in Pediatric Cardiology journal homepage: www.elsevier.com/locate/ppedcard