Key result
Carriers of the PLN-R14del mutation exhibited a distinct cardiac magnetic resonance phenotype characterized by sub-epicardial late gadolinium enhancement in the left ventricular lateral wall and increased extracellular volume.
Observational (n=10)
No
Cardiac magnetic resonance imaging can identify early phenotypic changes, such as sub-epicardial LGE in the LV lateral wall and increased ECV, in asymptomatic carriers of the PLN-R14del mutation before overt structural heart disease develops.
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PLN-R14del screening may aid familial DCM evaluation; leaves open prevalence, penetrance, and management impact.
to SR during the diastolic phase of cardiomyocytes to maintain intracellular calcium homeostasis. Mutations on PLN result in intracellular calcium disorder, myocardial contraction defect, and eventually heart failure and/or malignant ventricular arrhythmia. Since 2003, several kinds of PLN mutations have been identified in familial dilated cardiomyopathy (DCM) patients, illustrating a few clinical characteristics that differs from classical DCM patients. Herein, we report a large PLN-R14del family with typical clinical characteristics reported including relatively late-onset clinical symptoms, low-voltage in ECG, as well as frequent ventricular arrythmias. Moreover, members underwent cardiac magnetic resonance (CMR) examination showed a strikingly similar pattern of late gadolinium enhancement (LGE)-Sub-epicardial involvement in the left ventricular (LV) lateral wall with or without linear mid-wall enhancement in the interventricular septum. The former one can also present in younger PLN-R14del carriers despite completely normal LV structure and function. Meanwhile, T1 mapping also found significantly increased extracellular volume (ECV) in PLN-R14del carriers. These findings highlight the special role of CMR to phenotyping PLN-induced cardiomyopathy patients and distinguish them from other types of cardiomyopathy.
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Jiang et al. (2020) conducted an observational in Dilated cardiomyopathy / PLN-R14del mutation (n=10). PLN-R14del mutation was evaluated on Phenotypic characteristics on cardiac magnetic resonance (LGE pattern and ECV). Carriers of the PLN-R14del mutation exhibited a distinct cardiac magnetic resonance phenotype characterized by sub-epicardial late gadolinium enhancement in the left ventricular lateral wall and increased extracellular volume.
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