Abstract
BackgroundArrhythmogenic cardiomyopathy is a myocardial disorder characterized by ventricular arrhythmias, right and/or left ventricular involvement, and fibrofatty infiltrations in the myocardium. We report a family diagnosed with arrhythmogenic left ventricular cardiomyopathy (ALVC) and depict their echocardiographic characteristics.Methods and resultsFifteen family members were divided into three groups based on whether they carried the TMEM43 mutation and had been diagnosed with ALVC. Eight of them had TMEM43 mutations, and four were diagnosed with ALVC according to the Padua criteria. Only the proband experienced sudden cardiac death and had a dilated left ventricle. Left ventricular ejection fraction was reduced in two patients; however, left ventricular global longitudinal strain was depressed in three patients. Low QRS voltages in limb leads were evident in three patients, and five patients had frequent ventricular premature contractions. Late gadolinium enhancement was evident in three patients. Left ventricular layer-specific strain showed that the transmural strain gradient ratio was increased in patients diagnosed with ALVC, and it was elevated in the genotype-positive and phenotype-negative groups compared with healthy individuals.ConclusionGlobal left ventricular longitudinal strain better evaluated left ventricular function than left ventricular ejection fraction. The transmural strain gradient ratio was elevated in patients diagnosed with ALVC, suggesting that it was useful for the evaluation of ALVC.
Highlights
An expert panel of the Heart Rhythm Society (HRS) defined arrhythmogenic cardiomyopathy (ACM) as an arrhythmogenic disorder of the myocardium that is not explained by ischemia, hypertensive, or valvular disease [1]
The transmural strain gradient ratio was elevated in patients diagnosed with arrhythmogenic left ventricular cardiomyopathy (ALVC), suggesting that it was useful for the evaluation of ALVC
TMEM43 mutations were detected in eight family members, of which 4 were diagnosed with ALVC according to the Padua criteria (Table 1), which were included in the group with genotype and phenotype positivity
Summary
An expert panel of the Heart Rhythm Society (HRS) defined arrhythmogenic cardiomyopathy (ACM) as an arrhythmogenic disorder of the myocardium that is not explained by ischemia, hypertensive, or valvular disease [1]. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a classic phenotype characterized. Arrhythmogenic left ventricular cardiomyopathy (ALVC) is characterized by left ventricular involvement predominantly with no or minor RV abnormalities [4]. Several studies have provided significant insights into the diagnosis of ALVC based on contrast-enhanced cardiac magnetic resonance (CE-CMR) tissue characterization findings, depolarization/repolarization ECG abnormalities, and ventricular arrhythmia features for the diagnosis of the LV phenotype [4, 5]; the echocardiographic characteristics of ALVC have not been well described. We report a family with a TMEM43 mutation diagnosed with ALVC and emphasize the characterization of left ventricular longitudinal strain in this family, with the aim of providing an advanced understanding of ALVC. Arrhythmogenic cardiomyopathy is a myocardial disorder characterized by ventricular arrhythmias, right and/or left ventricular involvement, and fibrofatty infiltrations in the myocardium. We report a family diagnosed with arrhythmogenic left ventricular cardiomyopathy (ALVC) and depict their echocardiographic characteristics
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