Kaskadenscreening bei pädiatrischen Patienten mit primärer Kardiomyopathie mittels Tissue Tagging [thesis]

Lisa-Marie Mielenz, Universitätsbibliothek Der FU Berlin
2019
Cascade screening in pediatric patients with primary cardiomyopathy using tissue tagging Introduction: Cardiomyopathies (CMP) are heterogeneous, rare heart muscle diseases and a common cause of heart failure. Of particular importance is therefore an early detection and regular examinations. In patients with CMP cardiovascular magnetic resonance (CMR) tissue tagging facilitates the evaluation of regional myocardial function. This study aimed to perform a cascade screening in pediatric CMP
more » ... ediatric CMP patients and their family members by using tissue tagging and comparing it to genetic and diagnostic data. Methods: CMP patients and their relatives underwent CMR with tagging sequences to generate longitudinal (LS), circumferential (CS), radial (RS) and global longitudinal strain (GLS) values, as well as cardiopulmonary exercise testing, determination of brain natriuretic peptide (BNP) and genetic testing. Results: Nineteen CMP patients (median age 12.5 years) and 65 family members (FM) (52 adults, 41.0 years; 13 siblings, 16.5 years) were analyzed. Patients diagnoses were: 26.3% dilated, 31.6% hypertrophic, 26.3% left ventricular noncompaction, 5.3% restrictive and 10.5% arrythmogenic right ventricular CMP. In between CMP groups the median midventricular CS revealed a significantly difference with lowest values in DCM patients (p= 0.033). The GLS (-11.4 % vs. -13.2 %, p= 0.025) and midventricular CS (-16.4 vs. -18.6, p= 0,015) differed significantly between patients and FM without pheno- or genotypical signs of CMP. There was a negative correlation between maximal oxygen uptake and midventricular CS (p= 0.024; rs= -0.562), RS (p= 0.009; rs= -0.713) and apical CS (p= 0.003; rs= -0.685). Furthermore BNP was positively correlated with GLS (p= 0.009; rs= -0,292). In phenotype positive family members apical CS (p= 0.032) and 4-chamber LS (p= 0.037) were significantly reduced compared to phenotype negative relatives. Conclusions: The reduction of strain values in pediatric CMP patients and affected FM in contrast to non-affected FM c [...]
doi:10.17169/refubium-25885 fatcat:65f6k6vl7jg2lg7geeakscj7pu