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:
- Infectious causes (post-myocarditis): Chagas disease, viral
(enteroviruses, adenoviruses, echoviruses, herpes viruses, parvovirus
B19, HIV, SARS-CoV-2), bacterial (Lyme disease), mycobacterial, and
fungal.
- Toxic and overload causes: Ethanol, cocaine, amphetamines, ecstasy,
cobalt, anabolic/androgenic steroids, haemochromatosis and other
causes of iron overload.
- Endocrinology causes: Hypo and hyperthyroidism, Cushing/Adisson
disease, phaeochromocytoma, acromegaly, diabetes mellitus.
- Nutritional deficiency causes: Selenium, thiamine, zinc, copper, and
carnitine deficiencies have been described.
- Drugs: Antineoplasic drugs and mainly anthracyclines, but also
antimetabolites, alkylating agents, taxol, hypomethylating agents,
monoclonal antibodies, tyrosine kinase inhibitors, and
immunomodulating agents. Besides, psychiatric drugs like clozapine,
olanzapine, chlorpromazine, risperidone, lithium, methylphenidate, and
tricyclic antidepressants. Finally, other drugs like all-trans
retinoic acid, antiretroviral agents, and phenothiazines have been
described.
- Peripartum
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.