| Autor: |
Fiona Becker-Dettling, Robert Dalla-Pozza, Adelheid Kley, Esther M. Maier, Stephanie Regenauer-Vandewiele |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Clinical Cardiology and Cardiovascular Interventions. 5:01-06 |
| ISSN: |
2641-0419 |
| Popis: |
Infantile hypertrophic cardiomyopathy (HCM) comprises a group of rare and heterogeneous diseases and is the second most common cause of cardiomyopathy in childhood and adolescents. In general, the muscular hypertrophy results in histological and functional disorder. The prognosis depends on the underlying aetiology. However, HCM represents a high risk of mortality especially in neonates. Rarely, mitochondrial dysfunction is accountable for HCM. Here we describe a case of a rapidly progressive infantile HCM caused by complex V deficiency due to overlapping mt mutations in ATP6 and ATP8 with lethal course in a premature neonate suggesting early genetic testing in risk groups to clarify differential diagnosis, and determine thereby prognosis and rational therapy options. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
