The Clinician and the Mutations of Genes
The Clinician and the Mutations of Genes
Busy clinicians are bombarded by a considerable amount of information each hour of the day. Accordingly, practitioners must pick and choose the information they intend to use and remember. The following comments are, I believe, worth remembering.
Currently, the practitioner must be able to recognize abnormalities on the electrocardiogram that indicate serious conditions. These include syndromes that may lead to ventricular arrhythmias and sudden death, including the long QT-sudden death syndrome (LQTS), the Brugada syndrome, and epsilon waves due to right ventricular dysplasia.
Impressive advances in genetics have identified some of the genetic causes of these serious electrocardiographic abnormalities. According to Splawski and colleagues, mutations on 5 genes have been implicated in the LQTS; a study by Gussak and associates found that the Brugada syndrome is caused by a mutation on gene SCN5A, which is also one of the genes involved with the LQTS. (Presumably, the mutations occur on different parts of the gene.)
A growing understanding of genetic mutations that produce abnormalities on the electrocardiogram should improve the physician's awareness of and ability to detect these abnormalities.
Busy clinicians are bombarded by a considerable amount of information each hour of the day. Accordingly, practitioners must pick and choose the information they intend to use and remember. The following comments are, I believe, worth remembering.
Currently, the practitioner must be able to recognize abnormalities on the electrocardiogram that indicate serious conditions. These include syndromes that may lead to ventricular arrhythmias and sudden death, including the long QT-sudden death syndrome (LQTS), the Brugada syndrome, and epsilon waves due to right ventricular dysplasia.
Impressive advances in genetics have identified some of the genetic causes of these serious electrocardiographic abnormalities. According to Splawski and colleagues, mutations on 5 genes have been implicated in the LQTS; a study by Gussak and associates found that the Brugada syndrome is caused by a mutation on gene SCN5A, which is also one of the genes involved with the LQTS. (Presumably, the mutations occur on different parts of the gene.)
A growing understanding of genetic mutations that produce abnormalities on the electrocardiogram should improve the physician's awareness of and ability to detect these abnormalities.
