Ventricular tachycardia: a presentation of Fabry disease case report.
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Case report
Fabry disease
Hypertrophic cardiomyopathy
Metabolic disease
Ventricular tachycardia
Journal
European heart journal. Case reports
ISSN: 2514-2119
Titre abrégé: Eur Heart J Case Rep
Pays: England
ID NLM: 101730741
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
21
07
2018
accepted:
20
11
2018
entrez:
26
4
2019
pubmed:
26
4
2019
medline:
26
4
2019
Statut:
epublish
Résumé
Fabry disease is an inherited rare metabolic disease caused by mutation in the A 36-year-old man self-presented to a general practitioner complaining of episodes of shortness of breath together with a 6-month history of malaise. The 12-lead electrocardiogram (ECG) prompted a decision to transfer him immediately to a percutaneous coronary intervention (PCI) capable hospital under the suspicion of acute coronary syndrome. Whilst awaiting transport, he experienced acute onset of dyspnoea together with non-specific chest heaviness. A repeat ECG monitor strip showed ventricular tachycardia transforming to ventricular fibrillation. The patient was successfully defibrillated. Coronary angiography was performed upon arrival at hospital and demonstrated unobstructed coronary arteries. Transthoracic echocardiography revealed concentric left ventricular hypertrophy (LVH) and normal systolic function, with severe diastolic dysfunction. Magnetic resonance imaging (MRI) confirmed the LVH, and did not demonstrate any late gadolinium enhancement. Our case illustrates the pivotal role of critical clinical thinking in the diagnosis of rare but treatable hereditary cardiomyopathy. The uncommon cardiac presentation of Fabry disease promotes further research linking different phenotypes of Fabry disease with different pathogenic mutations.
Sections du résumé
BACKGROUND
BACKGROUND
Fabry disease is an inherited rare metabolic disease caused by mutation in the
CASE SUMMARY
METHODS
A 36-year-old man self-presented to a general practitioner complaining of episodes of shortness of breath together with a 6-month history of malaise. The 12-lead electrocardiogram (ECG) prompted a decision to transfer him immediately to a percutaneous coronary intervention (PCI) capable hospital under the suspicion of acute coronary syndrome. Whilst awaiting transport, he experienced acute onset of dyspnoea together with non-specific chest heaviness. A repeat ECG monitor strip showed ventricular tachycardia transforming to ventricular fibrillation. The patient was successfully defibrillated. Coronary angiography was performed upon arrival at hospital and demonstrated unobstructed coronary arteries. Transthoracic echocardiography revealed concentric left ventricular hypertrophy (LVH) and normal systolic function, with severe diastolic dysfunction. Magnetic resonance imaging (MRI) confirmed the LVH, and did not demonstrate any late gadolinium enhancement.
DISCUSSION
CONCLUSIONS
Our case illustrates the pivotal role of critical clinical thinking in the diagnosis of rare but treatable hereditary cardiomyopathy. The uncommon cardiac presentation of Fabry disease promotes further research linking different phenotypes of Fabry disease with different pathogenic mutations.
Identifiants
pubmed: 31020230
doi: 10.1093/ehjcr/yty154
pii: yty154
pmc: PMC6439386
doi:
Types de publication
Case Reports
Langues
eng
Pagination
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