Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation
| Autor: | Eleonora Cocco, Maria Giovanna Marrosu, Giovanni Marrosu, Claudia Sardu, Franco Isola, Elisabetta Solla, Nicola Carboni, Maria Antonietta Maioli, Rachele Piras, Anna Mateddu, Giancarlo Coghe, Lai C, Vincenzo Nissardi, Valentina Oppo, Rosa C. Manzi |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Cardiomyopathy Dilated Male medicine.medical_specialty Physiology Cardiomyopathy Biology Gene mutation Sudden death LMNA Cohort Studies Cellular and Molecular Neuroscience Physiology (medical) Internal medicine medicine Humans Aged Aged 80 and over Skeletal muscle Dilated cardiomyopathy Arrhythmias Cardiac Middle Aged medicine.disease Lamin Type A medicine.anatomical_structure Cohort Mutation cardiovascular system Cardiology Female Neurology (clinical) Cohort study |
| Zdroj: | Musclenerve. 46(2) |
| ISSN: | 1097-4598 |
| Popis: | Introduction: LMNA gene mutations are associated with cardiac and skeletal muscle alterations. Methods: A cohort of 21 mutated individuals was assessed with clinical and instrumental investigations over the years. Results: The median observation period was 6 years. Cardiac compromise was detected in 16 patients. Bradyarrhythmias were the most frequent manifestations, followed by supraventricular arrhythmias. Two individuals suffered from nonsustained and 1 from sustained ventricular tachyarrhythmias. Dilated cardiomyopathy was detected in 3 patients. Evaluation of the frequencies of the clinical expressions showed a high probability of suffering from analogue heart compromise in study subjects bearing the same LMNA gene mutation. Conclusions: Cardiac involvement represents a very common phenotypic expression of LMNA gene mutation. Subjects sharing common genetic background seem to suffer from analogue pattern of cardiac manifestation. Muscle Nerve 46: 187–192, 2012 |
| Databáze: | OpenAIRE |
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