1599 – Genomic testing for the diagnosis of heritable cardiomyopathies

New MBS item.

Diagnostic genetic testing of affected individuals: Characterisation of germline gene variants for inherited cardiomyopathies, in patients where clinical criteria or a family history indicate genetic testing is warranted.

HCM: MYBPC3, MYH7, TNNI3, TNNT2, TPM1, ACTC1, MYL2, MYL3 plus “mimic” genes PRKAG2, LAMP2, GLA.
DCM: LMNA, SCN5A, TTN, RBM20, PLN, DSP, MYH7.
ARVC: DSC2, DSG2, DSP, JUP, PKP2, and TMEM43.

Predictive genetic testing of family members: Detection of a clinically-actionable pathogenic variant, previously identified in a first-degree relative. Variant-specific genetic testing is recommended for family members and appropriate relatives, following the identification of causative variant in an index case, after clinical evaluation by a cardiologist.

Type: -

Cardiomyopathies comprise a small group of related, but clinically-distinct, primary diseases of the heart muscle, and are one of the major causes of sudden cardiac death and/or progressive heart failure. The most common cardiomyopathies are usually inherited as autosomal-dominant, and include hypertrophic cardiomyopathy, dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. The phenotypic spectrum of many inherited cardiomyopathies can be varied, and in some cases sub-classification by genotype is increasingly a more clinically useful approach (i.e. LMNA-cardiomyopathy). In many cases, clinical management will not change for patients with a positive genetic diagnosis; however, identification of variant negative family members will represent significant savings to the health system, by reducing the number of patients who require ongoing clinical monitoring.

• PASC meeting: 5 to 6 December 2019
• ESC meeting: 11 to 12 February 2021
• MSAC meeting: 31 March to 1 April 2021