Screening for Fabry disease in patients with left ventricular noncompaction

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,...

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Bibliographic Details
Main Author: Azevedo, Olga (author)
Other Authors: Marques, Nuno (author), Craveiro, Nuno (author), Pereira, Ana Rita (author), Antunes, Hugo (author), Reis, Liliana (author), Guerreiro, Rui Azevedo (author), Pontes dos Santos, Rui (author), Miltenberger-Miltenyi, Gabriel (author), Sousa, Nuno (author), Cunha, Damião (author)
Format: article
Language:eng
Published: 2020
Subjects:
Fabry disease
Noncompaction
Hypertrabeculation
Cardiomyopathy
Screening
Online Access:http://hdl.handle.net/10400.1/13576
Country:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/13576
Description
Summary: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.

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