Inherited Hyperammonemic Syndromes

Inherited Colon Cancer Syndromes

MEREDITH C. ROATH, MD JACK A. DI PALMA, MD University of South Alabama T he modern age of genetics began in the mid-19th century, and many scientific discoveries led to the sequencing of the human genome. Recent research has uncovered the genetic basis of many diseases, and continued study is certain to lead to more discoveries. The results of this research will continue to change medicine. Gen...

Inherited arrhythmia syndromes.

Inherited cardiac arrhythmia syndromes have received a lot of attention in recent years, particularly the molecular genetic basis, which has been unraveled to a great extent in the past years. Disease entities have been subdivided based on their causal gene defect, which, indeed, has been shown to impact on disease expression, clinical characteristics, prognosis and treatment. This particularly...

Inherited Cardiac Arrhythmia Syndromes

Lethal cardiac arrhythmias in individuals with structurally normal heart are often caused by variants in genes that encode cardiac ion channel and -subunits (102). Common inherited arrhythmia syndromes include the congenital long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQT), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (76). Moreover, inherited mutatio...

Inherited hematologic and oncologic syndromes.

Mortality of Inherited Arrhythmia Syndromes

Background—For most arrhythmia syndromes, the risk of sudden cardiac death for asymptomatic mutation carriers is ill defined. Data on the natural history of these diseases, therefore, are essential. The family tree mortality ratio method offers the unique possibility to study the natural history at a time when the disease was not known and patients received no treatment. Methods and Results—In ...