DSP c.1339C>T is associated with an aggressive clinical phenotype of left-dominant arrhythmogenic cardiomyopathy and left ventricular non-compaction. Truncating mutations in desmoplakin are consistently associated with aggressive phenotypes and must be considered as a risk factor of sudden death. Since ventricular tachycardia occurs even in the absence of severe systolic dysfunction, an implantable cardioverter-defibrillator should be indicated promptly.
Background: Left ventricular outflow tract (LVOT) measurement is a critical step in the quantification of aortic valve area. The assumption of a circular morphology of the LVOT may induce some errors. The aim of this study was to assess the three-dimensional (3D) morphology of the LVOT and its impact on grading aortic stenosis severity.
The MYBPC3 IVS23+1G→A mutation is associated with middle-age onset disease and poor outcome, with a significant proportion of patients developing systolic impairment and a high SD risk profile.
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