caa a22 4500 44582607X CHVBK 20180317145259.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s00246-010-9843-1 doi (NATIONALLICENCE)springer-10.1007/s00246-010-9843-1 Clinical Spectrum in a Family with Tropomyosin-Mediated Hypertrophic Cardiomyopathy and Sudden Death in Childhood [Elektronische Daten] [Majd Makhoul, Michael Ackerman, Dianne Atkins, Ian Law] This report demonstrates variable clinical courses in several members of a family with tropomyosin-mediated hypertrophic cardiomyopathy (HCM) (L185R mutation). The index case was an 8-year-old girl who died from sudden cardiac death and was diagnosed with HCM on autopsy. Her father had minimal hypertrophy but had an implantable cardioverter defibrillator placed prophylactically with no appropriate shocks. Two brothers progressed from normal phenotype to HCM on follow-up, the younger with significant hypertrophy and the older with mild hypertrophy. They both had malignant arrhythmia courses with VF, which was terminated by ICD shock. In conclusion, family members with same genotype can have significantly variable phenotypes. Springer Science+Business Media, LLC, 2010 Hypertrophic cardiomyopathy nationallicence Implantable cardioverter defibrillator nationallicence Sudden cardiac death nationallicence Makhoul Majd Department of Pediatric Cardiology, University of Iowa Children's Hospital, Iowa City, IA, USA aut Ackerman Michael Windland Smith Rice Sudden Death Genomics Laboratory, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA aut Atkins Dianne Department of Pediatric Cardiology, University of Iowa Children's Hospital, Iowa City, IA, USA aut Law Ian Department of Pediatric Cardiology, University of Iowa Children's Hospital, Iowa City, IA, USA aut Pediatric Cardiology Springer-Verlag 32/2(2011-02-01), 215-220 0172-0643 32:2<215 2011 32 246 https://doi.org/10.1007/s00246-010-9843-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00246-010-9843-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Makhoul Majd Department of Pediatric Cardiology, University of Iowa Children's Hospital, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Ackerman Michael Windland Smith Rice Sudden Death Genomics Laboratory, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA aut NATIONALLICENCE 700 1- Atkins Dianne Department of Pediatric Cardiology, University of Iowa Children's Hospital, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Law Ian Department of Pediatric Cardiology, University of Iowa Children's Hospital, Iowa City, IA, USA aut NATIONALLICENCE 773 0- Pediatric Cardiology Springer-Verlag 32/2(2011-02-01), 215-220 0172-0643 32:2<215 2011 32 246 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer