Predictors of Clinical Evolution in Prehypertrophic Fabry Disease

Antonia Camporeale, Maurizio Pieroni, Federico Pieruzzi, Paola Lusardi, Silvia Pica, Marco Spada, Renzo Mignani, Alessandro Burlina, Francesco Bandera, Marco Guazzi, Francesca Graziani, Filippo Crea, Adreas Greiser, Sara Boveri, Federico Ambrogi, Massimo Lombardi

Research output: Contribution to journalArticle

Abstract

BACKGROUND: In prehypertrophic Fabry disease, low myocardial T1 values, reflecting sphingolipid storage, are associated with early structural and ECG changes. The correlations between T1 values and functional parameters have not been explored. Furthermore, the potential prognostic role of T1 in predicting disease worsening is still unknown. METHODS: ECG, 2D echocardiography, cardiopulmonary test, and cardiac magnetic resonance were performed in 44 Fabry patients without left ventricular hypertrophy (35.7±14.5 years, 68.2% females). After a 12-month follow-up, clinical stability was evaluated using Fabry Stabilization Index. RESULTS: At baseline, T1 values showed a negative correlation with left ventricular mass ( r=-0.79; P<0.0001), maximum wall thickness ( r=-0.79; P<0.0001), Sokolow-Lyon Index ( r=-0.54; P<0.0001), left atrial volume ( r=-0.49; P<0.0002), and Mainz Severity Score Index ( r=-0.61; P<0.0001). No significant differences in systo-diastolic function and exercise capacity were observed comparing normal and low T1 Fabry patients. Arrhythmias were reported in 2 females with low T1 and late gadolinium enhancement. Five patients (40.0±12.4 years, 2 females) showed clinical worsening (Fabry Stabilization Index >20%) at follow-up. Higher left ventricular wall thickness (odds ratio, 2.61; CI, 1.04-6.57; P=0.04), left atrial volume (odds ratio, 1.24; CI, 1.02-1.51; P=0.03), and lower T1 values (odds ratio, 0.98; CI, 0.96-0.99; P=0.03) at baseline were independently associated with clinical worsening at follow-up. CONCLUSIONS: In prehypertrophic Fabry disease, low T1 values correlate with early electrocardiographic, morphological cardiac changes, and worsening of global disease severity but are not associated with functional abnormalities. The presence of low T1 values is a risk factor for disease worsening, thus representing a potential new tool in prognostic stratification and therapeutic approach.

Original languageEnglish
Pages (from-to)e008424
JournalCirculation. Cardiovascular imaging
Volume12
Issue number4
DOIs
Publication statusPublished - Apr 1 2019

Keywords

  • Fabry disease
  • female
  • gadolinium
  • hypertrophy, left ventricular
  • magnetic resonance imaging
  • risk factors

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

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