Clinical genetic aspects of cardiomyopathies

Pathology of the cardiomyopathies: geographical aspects.

Choroideremia; clinical and genetic aspects.

(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...

Genetic testing in specific cardiomyopathies

An increasing number of genetic tests for cardiomyopathies are becoming available for clinical use. This commentary will give a short overview of indications and challenges concerning genetic testing for these conditions.

Genetic cardiomyopathies causing heart failure.

Despite the striking advances in medical and surgical therapy, the morbidity, mortality, and economic burden of heart failure (HF) remain unacceptably high. There is increasing evidence that the risk and course of HF depend on genetic predisposition; however, the genetic contribution to HF is heterogeneous and complex. At one end of the spectrum are the familial monogenic HF syndromes in which ...

Clinical aspects of contact hypersensitivity

.