Case series: LMNA ‐related dilated cardiomyopathy presents with reginal wall akinesis and transmural late gadolinium enhancement

AbstractPatients withLMNA mutation ‐related heart disease are characterized by conduction abnormalities, ventricular tachyarrhythmias, and high risk of sudden cardiac death with mildly impaired systolic function, often without chamber dilation. Here, we presented three unrelated cases withLMNA mutation exhibited unusual cardiac phenotype of marked LV dilation, significant reduced ejection fraction with reginal wall akinesis, and transmural enhancement with a predilection of lateral wall on cardiovascular magnetic resonance (CMR). These three patients were found to have confirmed pathologicalLMNA mutations (c.1621C  >  T, p.R541C and c.1621G >  A, p.R541H) at the same location (p.R541) in the tail region of lamin A/C.
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research