Rare cardiac diseases

Hypertrophic cardiomyopathy (HCM) is one of the most commonly inherited cardiovascular diseases caused by mutations in genes encoding key cardiac sarcomeric proteins and is associated with a high risk of sudden cardiac death. Its prevalence has been originally described with 1:500. HCM is characterized by pronounced hypertrophy of cardiomyocytes, fiber disarray and development of fibrosis and can be divided into a non-obstructive (HNCM) and obstructive form (HOCM) therefore requiring personalized therapeutic therapies. HOCM differs from HNCM clinically by the presence of a pathological increased gradient in the left ventricular outflow tract caused by the asymmetric septum hypertrophy. Such discrepancy also establishes alternative treatment regimen for these two forms of HCM. Hypertrophic cardiomyopathy has various manifestations from asymptomatic status or mild clinical symptoms up to heart failure and sudden cardiac death. Despite the given clinical relevance of HCM there is a lack of biomarkers that can simplify the clinical management of patients suffering from HCM as well as causal therapies for this disease. The role of non-coding RNAs (ncRNAs) and cardiometabolic proteins as potential biomarkers for HCM identifying novel therapeutic targets in HCM is an important part of our translational research and a vision of our group. 

Fabry disease (FD) is a rare lysosomal storage disease and is based on a deficiency of the hydrolase alpha-galactosidase A (alpha-Gal). The enzyme activity deficiency results in accumulation of globotriaosylceramide (Gb3) in different cells/tissues and leads to impairment of various organs such as eyes, skin, nerves, gastrointestinal system, kidneys and cardiovascular system. The average time between the onset of symptoms and diagnosis is more than 10 years. Many patients develop cardiac involvement. Existing enzyme replacement therapies (ERT) has been shown to stabilize and reduce many symptoms of Fabry disease. Identifying ncRNAs as targets as well as the use of new analytical techniques in cardiac imaging (MRI) to better understand the pathophysiological mechanisms of Fabry disease and their interactions with ERT is a translational approach of our group.

A further translational research area of our group is the investigation of the relationship between vascular function and ncRNAs in patients with other cardiovascular diseases (e.g. heart failure, congenital heart disease, peripheral artery disease).

Group members: 


  • Kristina Sonnenschein (MD), Group Leader
  • Angelika Pfanne, Technician
  • Annette Just, Technician





  • ncRNA profiling and validation (RT-qPCR)
  • RNA Sequencing
  • Proteomic profiling
  • In silico prediction tools
  • ncRNA knockdown
  • FACS analysis
  • Western blotting
  • Vascular phenotyping
  • CRISPR/Cas9 genome editing
  • Histopathological analysis
  • Animal models for vascular injury
  • Cardiac imaging: echocardiography, MRI



1. The role of ncRNAs as biomarkers in hypertrophic cardiomyopathy.    

2. Novel protein biomarkers in hypertrophic cardiomyopathy.

3. Functional relevance of ncRNAs to control endothelial function in adults with congenital heart disease.

4. Therapeutic targeting of ncRNAs in endothelial dysfunction in patients with heart failure.