Molecular genetics of cardiomyopathy: changing times, shifting paradigms.

Hypertrophic Cardiomyopathy in Northern Sweden With special emphasis on molecular genetics

Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.

Genetics of dilated cardiomyopathy: a molecular maze?

Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by ventricular dilatation and impaired systolic function, and is a major cause of severe heart failure. Although familial occurrence of DCM has been reported occasionally, the frequency of familial aetiology has been underestimated in the past. Systematic examination of relatives show that probably > 25–30% of DCM cases are fa...

Changing Therapeutic Paradigms: Predicting mCRC Lesion Response to Selective Internal Radionuclide Therapy (SIRT) based on Critical Absorbed Dose Thresholds: A Case Study

A 65 year old male with metastatic colorectal cancer (mCRC) in the liver was referred for selective internal radionuclide therapy (SIRT) following a history of extensive systemic chemotherapy. 90Y PET imaging was performed immediately after treatment and used to confirm lesion targeting and measure individual lesion absorbed doses. Lesion dosimetry was highly predictive of eventual response in ...

Genetics of arrhythmogenic right ventricular cardiomyopathy.

Recent advances in molecular genetics of arrhythmogenic right ventricular cardiomyopathy (ARVD) are reviewed. In particular, the finding of mutations in the gene coding for cardiac ryanodine receptor (hRYR2), both in patients affected with ARVD2 and in patients affected with catecholaminergic ventricular arrhythmias or with familial ventricular tachyarrhythmia, is discussed. Novel data support ...