Associazione Nazionale Medici Cardiologi Ospedalieri




ALLOCCA GIUSEPPE Conegliano (TV) – UO Di Cardiologia Conegliano Aulss 2 Marca Trevigiana | Centa Monica Conegliano (TV) – UO Di Cardiologia Conegliano Aulss 2 Marca Trevigiana | BAGATO FRANCESCO Conegliano (TV) – UO Di Cardiologia Conegliano Aulss 2 Marca Trevigiana

Fabry disease (FD) is rare genetic syndrome which determines a lysosomal storage disorder caused
by pathogenic variants in the alpha-galactosidase A (GLA) gene that lead to alpha-galactosidase A (AGAL-
A) enzyme activity disfunction.The fenotipic effect is a left ventricular hypertrophy (LVH) that is
frequently misdiagnosed as hypertrophic cardiomyopathy (HCM).This disease in still unfamiliar for
the most part of cardiologists cause of the fenotipic familiarities with other more common and
wellknown diseases and according to recent data the prevalence of FD among unexplained LVH is
0.93%.These characteristics drive to a heavy under diagnosis of a disease with many therapy
chances. The prompt initiation of these treatments, subsequently an early diagnosis, is actually
considered the best strategy to improve the natural course of the disease.The critical evaluation of
the clinical history and basic cardiomiopaty assessments could drive the cardiologist to the
diagnosis.Precisely, we present an example of three family pedigree discovered in a couple of
months subsequently the unmasking of proband male patients with decennary misdiagnosis of
HCM. The ambulatory suspect of non sarcomeric disease in LVH drove us to critically reexaminate
EKGs and previous CMR scans finding respectively PR shortage associated with right bundle block
and basal inferolateral late gadolinium enhancement (figure 1). In a proband it is not possible to perform
MRI with gadolinium due to the presence of renal failure and the diagnostic suspicion arose by analyzing the T1
mapping signal (figure 2).The score ID FABRY-HCM were applied resulting suggestive too.Having

thus corroborated the suspicion, blood spot tests were performed finally detecting a very low
AGAL-A activity. The following GLA genetic tests identified the tipical mutation of late onset
Fabry’s disease (p.N215Ser). Fulfilling the consensus criteria for the therapy initiation, the patients
were treated with enzyme replacement therapy. We completed families predigree identifying other
six famale gene mutation carriers with almost preserved AGAL-A activity. The diagnosis of FD
allowed us to perform the specific therapy in affected patients hopefully effecting their quality of
life and their prognosis and to bring out healthy carriers.The initial suspect questioning a previous
diagnosis starting to simple clinical and routine strumental elements were crucial.