Azevedo Olga, Marques Nuno, Craveiro Nuno, Pereira Ana Rita, Antunes Hugo, Reis Liliana, Guerreiro Rui Azevedo, Pontes Dos Santos Rui, Miltenberger-Miltenyi Gabriel, Sousa Nuno, Cunha Damião
Cardiology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Cardiology Department, Centro Hospitalar Universitário do Algarve, Faro, Portugal; Algarve Biomedical Center, Faro, Portugal; Biomedical Science and Medicine Department, Algarve University, Faro, Portugal.
Rev Port Cardiol (Engl Ed). 2019 Oct;38(10):709-716. doi: 10.1016/j.repc.2019.02.014. Epub 2020 Jan 1.
It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC.
We performed a retrospective study including all patients diagnosed with LVNC in eight hospital centers. Diagnosis of LVNC was based on at least one echocardiographic or cardiac magnetic resonance criterion. FD screening was performed by combined enzyme and genetic testing.
The study included 78 patients diagnosed with LVNC based on the Jenni (84.6%), Stöllberger (46.2%), Chin (21.8%), Petersen (83.8%) and Jacquier (16.2%) criteria. Left ventricular systolic dysfunction was present in 48.7%. Heart failure was found in 60.3%, ventricular dysrhythmias in 21.6% and embolic events in 11.5%. FD screening found no additional cases among patients with LVNC, besides the previously described case.
No additional FD cases were found among patients with LVNC, which argues against the hypothesis that LVNC is a cardiac manifestation of FD.
