n CME : Your SA Journal of CPD - Genetics and molecular diagnosis of cardiomyopathy : what every doctor should know : main topic

Volume 23, Issue 1
  • ISSN : 0256-2170



A complete and detailed family history is the cornerstone to the management of patients with cardiomyopathy. <br>Idiopathic DCM is a diagnosis of exclusion that should only be made after exhaustive non-invasive and invasive investigation to rule out potentially reversible causes of heart failure. <br>Clinical screening should be offered to all first-degree relatives (i.e. parents, siblings and children) of cases of HCM and idiopathic DCM. <br>A much lower diagnostic threshold is appropriate when interpreting diagnostic tests in first-degree relatives of patients affected with HCM and familial DCM. In particular, there should be careful examination of the ECG and the echocardiogram for subtle abnormalities in these cases. <br>A molecular genetic diagnosis can be useful in HCM in settings in which the clinical diagnosis is equivocal (e.g. borderline hypertrophy) or impossible (e.g. in the presence of hypertension) in association with a high incidence of sudden death, but this remains technically demanding. <br>Molecular genetic diagnosis in isolated individuals is generally not practical. <br>Laboratories that offer molecular genetic testing are limited to research institutions with an interest in inherited cardiovascular disorders. (Information about South African laboratories is supplied in the text.)

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