Journal article
Clinical Spectrum in a Family with Tropomyosin-Mediated Hypertrophic Cardiomyopathy and Sudden Death in Childhood
Pediatric cardiology, Vol.32(2), pp.215-220
02/2011
DOI: 10.1007/s00246-010-9843-1
PMID: 21085943
Abstract
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.
Details
- Title: Subtitle
- Clinical Spectrum in a Family with Tropomyosin-Mediated Hypertrophic Cardiomyopathy and Sudden Death in Childhood
- Creators
- Majd Makhoul - 527 Ladson CT Decatur GA 30033 USAMichael Ackerman - 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 USADianne Atkins - Department of Pediatric Cardiology University of Iowa Children’s Hospital Iowa City IA USAIan Law - Department of Pediatric Cardiology University of Iowa Children’s Hospital Iowa City IA USA
- Resource Type
- Journal article
- Publication Details
- Pediatric cardiology, Vol.32(2), pp.215-220
- Publisher
- Springer-Verlag
- DOI
- 10.1007/s00246-010-9843-1
- PMID
- 21085943
- ISSN
- 0172-0643
- eISSN
- 1432-1971
- Language
- English
- Date published
- 02/2011
- Academic Unit
- Cardiology; Stead Family Department of Pediatrics
- Record Identifier
- 9984093499202771
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