Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients
| Autor: | Brenda Gerull, Ludwig Thierfelder, Sabine Sasse-Klaassen, Rolf Jenni, Erwin Oechslin |
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| Rok vydání: | 2003 |
| Předmět: |
Proband
Male medicine.medical_specialty Pathology Heart disease business.industry Cardiomyopathy Dilated cardiomyopathy Barth syndrome medicine.disease Left ventricular noncompaction cardiomyopathy Phenotype Pedigree Ventricular Dysfunction Left Endocrinology Internal medicine medicine Humans Female business Cardiomyopathies Gene Genetics (clinical) Genes Dominant |
| Zdroj: | American journal of medical genetics. Part A. (2) |
| ISSN: | 1552-4825 |
| Popis: | Isolated noncompaction of the ventricular myocardium (INVM, MIM 300183 and 604169) is a congenital unclassified cardiomyopathy with numerous prominent trabeculations and deep intertrabecular recesses in a hypertrophied and hypokinetic myocardium. Mutations in the G4.5 gene result in a wide spectrum of severe infantile X-linked cardiomyopathic phenotypes including Barth syndrome with dilated cardiomyopathy and INVM. Molecular genetic analysis of INVM has only been performed in pediatric patients. Although adult INVM patients show similar cardiac abnormalities, the influence of genetic factors, especially of mutations in G4.5, is unknown. We analyzed 25 adult INVM patients for the presence of mutations in the G4.5 gene and performed a pedigree analysis of probands. Mutations were not found in the coding sequence or splice sites of G4.5. Systematic analysis of relatives from seven of nine probands showed multiple affected members consistent with an autosomal dominant pattern of inheritance in the majority of cases. We conclude that INVM in the adult is an autosomal dominant disorder rarely caused by mutations in G4.5 and therefore genetically distinct from infantile X-linked cases. |
| Databáze: | OpenAIRE |
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