Molecular genetic screening after non-ischaemic sudden cardiac arrest and no overt cardiomyopathy in real life: A major tool for the aetiological diagnostic work-up.

Background: With the development of advanced sequencing techniques, genetic testing has emerged as a valuable tool for the work-up of non-ischaemic sudden cardiac arrest (SCA).

Aims: To evaluate the effectiveness of genetic testing in patients with unexplained SCA, according to clinical phenotype.

Methods: All patients who underwent molecular genetic testing for non-ischaemic SCA with no left ventricular cardiomyopathy between 2012 and 2021 in two French university hospitals were included.

Saw-Tooth Cardiomyopathy: Clinical Presentation and Genetic Analysis.

Saw-tooth cardiomyopathy is a very rare disease, and only few cases have been published since its first description 10 years ago. We report the clinical presentation, imaging features and genetic analysis of a saw-tooth cardiomyopathy and argues that it should not be confused with left-ventricular noncompaction. ().

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.

Post-mortem genetic analyses may help to elucidate the cause of cardiac death. The added value is however unclear when a cardiac disease is already suspected or affirmed. Our aim was to study the feasibility and medical impact of post-mortem genetic analyses in suspected cardiomyopathy.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: = 264) and once to the retrospective cohort (RCo: = 253). The main motivations for undergoing PGT were "to remove doubt" and "for their children".

Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy.

Background: Fabry disease (OMIM 301500) is an X-linked disorder caused by alpha-galactosidase A (α-Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or stabilize organ damages and reduce lyso-Gb3 plasma level. An increase of α-Gal A activity has been observed in vitro in cells expressing amenable GLA mutations when incubated with migalastat.