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

Patients with LMNA 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 with LMNA mutation exh...

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Detalles Bibliográficos
Autores principales: Wang, Shuai, Peng, Daoquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524123/
https://www.ncbi.nlm.nih.gov/pubmed/32666643
http://dx.doi.org/10.1002/ehf2.12822
Descripción
Sumario:Patients with LMNA 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 with LMNA 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 pathological LMNA 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.

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