Format

Send to

Choose Destination
See comment in PubMed Commons below
Rev Port Cardiol. 2014 Apr;33(4):247.e1-7. doi: 10.1016/j.repc.2013.10.014. Epub 2014 May 13.

Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.

Author information

1
Cardiology Department, Hospital Universitario de Santa Maria, Lisbon, Portugal; Lisbon Academic Medical Centre/Cardiovascular Centre of the University of Lisbon, Portugal.
2
Instituto de Medicina Molecular, Faculty of Medicine, Lisbon, Portugal. Electronic address: gmiltenyi@fm.ul.pt.
3
Clinical Genetics Department, Hospital Universitario de Santa Maria, Lisbon, Portugal.
4
Department of Pathology & Neuropathology, Institute of Biomedical Research of Vigo (IBIV), University Hospital of Vigo (CHUVI), Spain.
5
Lisbon Academic Medical Centre/Cardiovascular Centre of the University of Lisbon, Portugal.

Abstract

Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening.

KEYWORDS:

Anderson-Fabry disease; Doença de Anderson-Fabry; Hypertrophic cardiomyopathy; Miocardiopatia hipertrófica; Next-generation sequencing; Sequenciação de nova geração

PMID:
24830310
DOI:
10.1016/j.repc.2013.10.014
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Ediciones Doyma, S.L.
    Loading ...
    Support Center