Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.
Anna GaertnerJens TiesmeierThomas JakobBernd StrickmannGunter VeitBernd Bachmann-MennengaLech PaluszkiewiczKarin KlingelUwe SchulzKai T LaserBernd KargerHeidi PfeifferHendrik MiltingPublished in: Molecular genetics & genomic medicine (2019)
The identification of the genetic cause of the SCD contributed to the rational counseling of the relatives and risk assessment within the family. Furthermore our study revealed evidences for the pathomechanism of FHL1 mutations.