[HTML][HTML] Screening for Fabry disease in patients with left ventricular noncompaction

O Azevedo, N Marques, N Craveiro, AR Pereira… - Revista Portuguesa de …, 2019 - Elsevier
Abstract Introduction and Aim It is unclear whether left ventricular noncompaction (LVNC) is
a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We …

Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the …

O Azevedo, P Gaspar, C Sá Miranda, D Cunha… - Cardiology, 2011 - karger.com
We report a clinical case of a young female with Fabry disease but without left ventricular
hypertrophy, which fulfills the diagnostic criteria of left ventricular noncompaction (LVNC). To …

Left ventricular noncompaction and Fabry disease: two diagnoses in one heart?

M Klopotowski, M Spiewak, A Podgorska… - Clinical Research in …, 2021 - Springer
Discussion This is one of very few clinical cases of patients with typical morphological
abnormalities of noncompaction cardiomyopathy and at the same, confirmed Fabry disease …

[HTML][HTML] Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction

E Martins, T Pinho, S Carpenter, S Leite… - Revista Portuguesa de …, 2014 - Elsevier
Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the
alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is …

Left Ventricular Noncompaction in a Patient with Fabry Disease: An Unresolved Challenge.

O Azevedo, P Gaspar, C Sá Miranda, D Cunha… - …, 2011 - search.ebscohost.com
The patient with FD and left ventricular noncompaction (LVNC) pattern reported in our paper
was also submitted to this investigation, as were all of her siblings who were also diagnosed …

How to manage left ventricular hypertrabeculation/noncompaction in Fabry's disease?

C Stöllberger, J Finsterer - Cardiology, 2011 - search.ebscohost.com
Claudia Stöllberger a Josef Finsterer b aSecond Department of Internal Medicine,
Krankenanstalt Rudolfstiftung, and bKrankenanstalt Rudolfstiftung, Danube University …

[PDF][PDF] Is left ventricular hypertrabeculation/noncompaction a cardiac manifestation of Fabry's disease?

M Fabry - Z Kardiol, 2003 - academia.edu
■ Zusammenfassung Hintergrund Der M. Fabry ist eine Speicherkrankheit infolge eines
lysosomalen Enzymdefektes. Der M. Fabry kann als kardiale Manifestation in Form einer …

Fibrillin-1 gene mutations in left ventricular non-compaction cardiomyopathy

JJ Parent, JA Towbin, JL Jefferies - Pediatric cardiology, 2016 - Springer
Left ventricular non-compaction cardiomyopathy (LVNC) is a unique cardiomyopathy with a
current yield of about 30–40% in identifying a causative gene mutation. A retrospective …

Fibrillin-1 gene mutations in left ventricular non-compaction cardiomyopathy

JJ Parent, JA Towbin, JL Jefferies - Circulation, 2014 - Am Heart Assoc
Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare and unique
cardiomyopathy. Its presentation can range from a benign phenotype to overt heart failure …

Left ventricular noncompaction cardiomyopathy in association with trisomy 13

CJ McMahon, AC Chang, RH Pignatelli… - Pediatric …, 2005 - Springer
In recent years, left ventricular noncompaction (LVNC) has been recognized as a distinct
form of cardiomyopathy with its own clinical presentation and natural history. More than 100 …