ArrayCGH: New way for detecting the root of congenital genetic cardiomyopathies

The detection of the genetic cause in patients with congenital cardiomyopathies is one of the first steps to follow in order to achieve a good clinical care on patients. For detecting in an accurate and efficient way, today we speak about arrayCGH. A technique which, along with FISH (fluorescence in situ hybridisation), is able to identify variations in the number of DNA copies of the patient.

This is confirmed by a research made on newborns with congenital cardiomyopathies at the Cardiac Intensive Care Unit of Pittsburgh's Children Hospital. In this research, using McNemar test, patients underwent classical cytogenetic tests, and simultaneously, the test we are now writing about: arrayCGH.

The results of the research can't be more promising for this technique. In 22.2% of patients a variation in the number of copies was detected thanks to arrayCGH, a higher percentage than with traditional cytogenetic analysis, highlighting a higher detection rate (p=0,008). Furthermore, the prevalence of dysmorphology and/or comorbidity which was detected reached72%.

In addition to a more accurate detection, using arrayCGH allows going forward in the research of those cases in which these detected variations have no clinical significance, becoming a technique with great potential both in clinical diagnosis and in the field of research.