P3684Detecting true left dominant arrhythmogenic cardiomyopathy: cardiac magnetic resonance imaging and an invasive diagnostic assessment to go beyond current diagnostic criteria
Authors: Casella M , Dello Russo A , Gasperetti A , Sicuso R , Basso C , Conte E , Mushtaq S , Andreini D , Vettor G , Moltrasio M , Catto V , Natale A , Tondo C 
Published: October 2019

Background

Left-dominant arrhythmogenic cardiomyopathy (LDACM) represents an underdiagnosed subtype of the classical right-dominant ACM, with a fibro-fatty infiltration of the left ventricle ab disease initio. To date, ACM diagnosing criteria do not include any paradigm for LDACM and no shared consensus or position statement has been issued yet.

Purpose

To analyse the diagnostic work-up needed to reach a definite diagnosis in LDACM patients (pts).

Methods

All pts with a high clinical suspicion of ACM admitted at our institution were evaluated. Disease and familiar history, and both baseline ECG and cardiac ultrasound (US) were retrieved in all pts. Before invasive evaluation, all pts underwent cardiac magnetic resonance imaging (MRI) for morphology assessment and tissue characterization by late gadolinium enhancement (LGE). An invasive evaluation with an electrophysiological study (EPS) and an endo-cavitary electro-anatomical mapping (EAM) was then subsequently performed; EAM-guided endo-myocardial biopsy (EMB) was performed at physician discretion, for direct histological evaluation of myocardial substrate.

Results

30 ACM pts (53±6 y.o.; 66% male) were defined as LDACM; 22 (73%) pts presented unspecific ECG abnormalities, with 8 (27%) pts instead presenting negative t-waves in V4-V6. Cardiac US resulted unremarkable in 27 (90%) pts. Sustained ventricular arrhythmia with right bundle brunch block were experienced in 4 (14%) pts, while frequent premature ventricular beats with the same morphology in 10 (33%).

LDACM diagnosis was mainly suspected upon MRI evaluation: all 30 pts presented a late gadolinium enhancement (LGE) pattern revealing an isolate left ventricle fibro-fatty infiltration, with normal biventricular contractility (LV and RV ejection fraction 57±9% and 53±2%, respectively).

Right ventricular, left ventricular and biventricular endo-cavitary EAM was performed in 10 (33%), 11 (37%) and 9 (30%) pts respectively, revealing pathologically low unipolar voltages in 7 (23%) and both unipolar and bipolar low voltages in 15 (50%) pts. In 18 (60%) pts an EMB was performed, revealing in 15 (83%) a fibro-fatty infiltrate and a fibro-fatty infiltrated with a superimposed viral myocarditis in a single pt. Genetic testing was performed in 16 (53%) pts, of which 10 (33%) showed causative mutation of desmosomal genes.

If strictly adhering to the existing criteria, only 7 (23%) LDACM definite diagnosis would have been reached, even when using EMB and genetic testing.

LDACM EAM with late potentials

Conclusion

LDACM is an underestimated ACM subtype that require MRI evaluation and an invasive work-up for definite diagnosis. Although EMB and genetic testing being the most effective diagnostic tools currently at disposal adhering to existing criteria, a definite diagnosis could be reached only in a fraction of patient population. Existing diagnostic criteria should be revised, mainly to take in consideration EAM specific role and to properly define the LDACM entity.