Differential diagnosis, investigations and treatment
In relation to the differential diagnosis of neither ischaemic nor genetic secondary causes of DMC, certain pathologies that could cause it have been described 4,6. These include:
After reviewing the diagnostic criteria and performing an exhaustive interrogation and physical examination, and after performing the laboratory tests indicated for these diagnoses, these conditions were ruled out. Therefore, it is important to keep in mind that within the diagnostic approach of this cardiomyopathy, secondary non-genetic diseases must be ruled out; likewise, carrying out an adequate family pedigree of the patient’s relatives in order to guide a possible genetic origin of the cardiomyopathy.
In our case, no first- or second-degree relatives of the patient had a history of cardiomyopathies or other relevant diseases, which is why it was considered de novo mutation.