Echocardiographic Diagnosis in Concealed Forms of the Disease

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The majority of echocardiographic studies in patients with ARVC/D refer to subjects who had symptoms and who usually presented a moderate or severe form of the disease [3, 4]. However, clinical screening of families affected by ARVC/D have demonstrated that in addition to family members with extensive involvement from the disease there are others with minor or "concealed" forms [16].

The identification of these concealed forms relies on recognition of "minor" echocardiographic signs. These signs may suggest the presence of the disease, particularly in subjects who are preselected on the basis of family history of ARVC/D and/or juvenile sudden death or electrocardiographic findings (12-lead ECG abnormalities, presence of late potentials at signal-averaged ECG, ventricular arrhythmias with left bundle branch block morphology).

The relationship of qualitative echocardiographic signs and concealed forms of ARVC/D was initially studied by Scognamiglio et al. [2] who analyzed a series of family members of affected individuals and compared them to subjects with ventricular arrhyth mias with left bundle branch block morphology. The following echocardiographic findings were reported as "suggestive" of a concealed form of the disease:

1. A diastolic localized bulge and/or systolic dyskinesia of postero-inferior wall just below the tricuspid valve (Fig. 14.2);

2. A highly reflective moderator band as well as the presence of a trabecular disarrangement (Figs. 14.1d, 14.1e, and 14.3);

3. An isolated dilatation of RVOT;

4. Presence of sacculations of the RVOT;

5. Isolated wall motion abnormalities (hypokinesia, dyskinesia) of apical, subtricuspid, or RVOT (Fig. 14.1c).

Fig. 14.2 • Parasternal long axis view of a 34-year-old woman who was found to be affected by ARVC/D during familial screening. Note the presence of a diastolic localized bulge of the postero-inferior wall below the tricuspid valve
Fig. 14.3 • Close-up of a right ventricular apex (apical four-chamber view) of a 50-year-old man diagnosed with ARVC/D during evaluation for sport eligibility: note the presence of trabecular derangement

The prevalence of each of these findings has yet to be determined in a large population study, which will be challenging given the fact that the prevalence may vary as a function of duration of the disease. Correlating these echocardiographic findings with genotype will also be possible in the near future.

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