Cardiomyopathy in an Adolescent with McLeod Syndrome: Searching Beyond the Routine Assessment

There are only few reports in the literature regarding McLeod Syndrome and cardiomyopathy and all of them are referred to adults with neurological symptoms and hyperCKemia. To our knowledge, this is the first reported case of a neurologically asymptomatic 14-year-old male adolescent with hyperCKemia and dilated cardiomyopathy, due to McLeod syndrome. In our patient, the documentation of clinical suspicion of McLeod syndrome was achieved by genetic assessment. Our clinical awareness guided the decision to perform a cardiovascular magnetic resonance (CMR) evaluation although the echocardiogram was normal. The lack of neurological symptoms can be attributed to the young age of the patient, since neurological symptoms usually start from 25 to 60 years of age. However, nothing is known about the age of cardiomyopathy development. Again, there is no evidence from the literature that dilated cardiomyopathy can precede the development of neurological symptoms. There is only one case in the literature presenting the coexistence of dilated cardiomyopathy, due to myocarditis and McLeod syndrome, but in our patient no history of myocarditis was identified and the CMR showed lack of myocardial oedema, indicative of myocarditis.