As a pediatric cardiogenetics group we focus on the molecular genetics of cardiomyopathies,
arrhythmias, and structural congenital heart defects. Considerable progress in identifying the genes
and pathways involved in left ventricular noncompaction cardiomyopathy (LVNC) has been made and
this entity will continue be one main topic of our future research. Among the various projects and
activities in the past 3 years at the ECRC the main progress has been made in identifying that
mutation of the PRDM16 gene causes cardiomyopathy.
A short overview on our projects is shown in the corresponding sections.
1. 1p36 Deletion Syndrome, PRDM16 in Heart Failure
2. Sarcomere Genes in Left Ventricular Noncompaction Cardiomyopathy
3. Ebstein Anomaly
4. Exome sequencing and RNAseq in Left Ventricular Outlow Tract Obstruction
5. Risk stratification in pediatric cardiomyopathies (RIKADA)