CASE REPORT Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia Laura I. Rudaks • Chad Andersen • T. Y. Khong • Andrew Kelly • Michael Fietz • Christopher P. Barnett Received: 15 September 2011 / Accepted: 9 December 2011 / Published online: 29 February 2012 Ó Springer Science+Business Media, LLC 2012 Abstract Hypertrophic cardiomyopathy (HCM) is a rare presenting feature of congenital disorder of glycosylation type Ia (CDG-Ia). We report two female siblings with CDG- Ia and cardiomyopathy. Patient no. 1 died at 12 days of age from cardiac rupture and tamponade, which has not previ- ously been reported in CDG-Ia. The second patient died at 2 months of age from HCM. The severe cardiac manifesta- tions seen in our patients emphasize the importance of early cardiac assessment in all patients with CDG-Ia. Keywords CDG-Ia Á Hypertrophic cardiomyopathy Á Cardiac rupture Á Cardiac tamponade Introduction Congenital disorders of glycosylation (CDGs) are a group of inherited disorders causing abnormal enzyme function in the pathways for the glycosylation of proteins or lipids. CDG type Ia (CDG-Ia) is caused by phosphomannomutase-2 (PMM2) deficiency, and the three main clinical features are neurological disease, dysmorphism, and variable involve- ment of other organ systems [1, 2]. Cardiac involvement during the neonatal period is uncommon. Here we report two female siblings with CDG-Ia, the first of whom died from cardiac rupture and tamponade and who was retrospectively diagnosed with CDG-Ia after her sister’s neonatal death from hypertrophic cardiomyopathy (HCM) 18 months later. To the best of our knowledge, this is the first report of cardiac rupture associated with CDG-Ia. Case Reports Patient No. 1 Patient no. 1 was born at 39 weeks gestation to noncon- sanguineous white Australian parents by Caesarean section after an uneventful pregnancy. Apgar scores were 8 and 9 at 1 and 5 min, respectively. Weight, length, and head cir- cumference were in the 10th, 75th, and \ 10th percentiles, respectively, for gestational age. The baby fed poorly and had mild hypoglycemia (2.2–2.7 mmol/L (normal [ 2.7), thus requiring transfer to the special care nursery on day 5. L. I. Rudaks SA Clinical Genetics Service, Women’s and Children’s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia C. Andersen Department of Neonatal Medicine, Women’s and Children’s Hospital, North Adelaide, Australia T. Y. Khong Women’s and Children’s Hospital/SA Pathology, North Adelaide, Australia A. Kelly Department of Cardiology, Women’s and Children’s Hospital, North Adelaide, Australia M. Fietz SA Pathology, Women’s and Children’s Hospital, North Adelaide, Australia M. Fietz School of Molecular Biosciences, University of Adelaide, Adelaide, Australia C. P. Barnett (&) SA Clinical Genetics Service, Women’s and Children’s Hospital/SA Pathology, 72 King William Road, North Adelaide, SA 5006, Australia e-mail: christopher.barnett@health.sa.gov.au 123 Pediatr Cardiol (2012) 33:827–830 DOI 10.1007/s00246-012-0214-y