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Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations

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Representative electrocardiograph demonstrating repolarization abnormalities with inversion of T-waves in inferolateral leads and deep S waves.
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Figure 1: Representative electrocardiograph demonstrating repolarization abnormalities with inversion of T-waves in inferolateral leads and deep S waves.

Mentions: Electrocardiography was abnormal in all, with abnormal repolarisation and deep S waves (n = 3) or marked left ventricular hypertrophy by voltage criteria (n = 1). Despite normal biventricular volumes and systolic function, GFPT1/DPAGT1 patients demonstrated late gadolinium enhancement suggestive of myocardial fibrosis (n = 4, mean proportion of enhanced myocardium > 5 SD above individual reference regions 3.2% +/-1.6, Figure 1), impaired energetics (n = 2) and diastolic dysfunction (n = 3). No patient had symptoms attributable to cardiovascular disease on structured interview.


Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations
Representative electrocardiograph demonstrating repolarization abnormalities with inversion of T-waves in inferolateral leads and deep S waves.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4043845&req=5

Figure 1: Representative electrocardiograph demonstrating repolarization abnormalities with inversion of T-waves in inferolateral leads and deep S waves.
Mentions: Electrocardiography was abnormal in all, with abnormal repolarisation and deep S waves (n = 3) or marked left ventricular hypertrophy by voltage criteria (n = 1). Despite normal biventricular volumes and systolic function, GFPT1/DPAGT1 patients demonstrated late gadolinium enhancement suggestive of myocardial fibrosis (n = 4, mean proportion of enhanced myocardium > 5 SD above individual reference regions 3.2% +/-1.6, Figure 1), impaired energetics (n = 2) and diastolic dysfunction (n = 3). No patient had symptoms attributable to cardiovascular disease on structured interview.

View Article: PubMed Central - HTML

No MeSH data available.


Related in: MedlinePlus