دورية أكاديمية
أعرض في EDS

Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive.

التفاصيل البيبلوغرافية
العنوان: Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive.
المؤلفون: Vermeer AMC; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: a.m.vermeer@amc.uva.nl., Clur SB; Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Blom NA; Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Wilde AAM; Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Christiaans I; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
المصدر: The Journal of pediatrics [J Pediatr] 2017 Sep; Vol. 188, pp. 91-95. Date of Electronic Publication: 2017 Apr 07.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE
أسماء مطبوعة: Original Publication: St. Louis, MO : Mosby
مواضيع طبية MeSH: Penetrance*, Cardiomyopathy, Hypertrophic/*genetics, Adolescent ; Cardiomyopathy, Hypertrophic/epidemiology ; Cardiomyopathy, Hypertrophic/mortality ; Child ; Defibrillators, Implantable ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Male ; Mutation ; Phenotype
مستخلص: Objectives: To investigate the presence of hypertrophic cardiomyopathy (HCM) at first cardiac evaluation and during follow-up and cardiac events in predictively tested children who are mutation positive.
Study Design: The study included 119 predictively tested children who were mutation positive, with a mean age of 12.1 years. A family history and clinical variables from all cardiac evaluations after predictive genetic testing were recorded. Outcome measures were a clinical diagnosis of HCM, death, and cardiac events.
Results: No child died during a mean follow-up of 6.9 ± 3.8 years: 95 children were evaluated more than once. Eight (6.7%) children who were mutation positive were diagnosed with HCM at one or more cardiac evaluation(s), some with severe hypertrophy. In one patient who fulfilled the diagnostic criteria for HCM a cardiac event occurred during follow-up. She received an appropriate implantable cardioverter-defibrillator shock 4 years after a prophylactic implantable cardioverter-defibrillator was implanted.
Conclusion: The risk for predictively tested children who are mutation positive to develop HCM during childhood and the risk of cardiac events in children who are phenotype negative are low. In children who are phenotype positive, however, severe hypertrophy and cardiac events can develop. Further research is necessary to study whether the interval between cardiac evaluations in children can be increased after a normal first evaluation and whether risk stratification for sudden cardiac death is necessary in children who are phenotype negative.
(Copyright © 2017 Elsevier Inc. All rights reserved.)
التعليقات: Comment in: J Pediatr. 2017 Sep;188:10-11. (PMID: 28533036)
فهرسة مساهمة: Keywords: genetics
تواريخ الأحداث: Date Created: 20170412 Date Completed: 20170915 Latest Revision: 20181216
رمز التحديث: 20221213
DOI: 10.1016/j.jpeds.2017.03.033
PMID: 28396031
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-6833
DOI:10.1016/j.jpeds.2017.03.033