Author + information
Arbustini E, Narula N, Dec GW, Reddy KS, Greenberg B, Kushwaha S, Marwick T, Pinney S, Bellazzi R, Favalli V, Kramer C, Roberts R, Zoghbi WA, Bonow R, Tavazzi L, Fuster V, Narula J. The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation. J Am Coll Cardiol 2013;62:2046–72.
Page 2052, the correct information for the first bullet item is (see bold for changes):
The organ involvement (O) is documented as heart only (OH) or involvement of other organs/systems as below. The extracardiac involvement may be described by organ/system notations, such as skeletal muscle (OH+M), auditory system (OH+A), kidney (OH+K), nervous system (OH+N), liver (OH+L), gastrointestinal system (OH+G), cutaneous (OH+C), eye ocular system (OH+E), or OH+MR for mental retardation. Involvement of other organs may represent the systemic disease. Healthy mutation carriers can be described as (O0), because the heart is not yet involved.
Page 2053, the correct sentence is (see bold for changes):
In the E annotation, nongenetic amyloidosis (EA-K) or (EA-L) or (EA-SAAA) should be described with kappa, lambda, serum amyloid A, or other protein characterization.
Table 2 footnote, O = ocular system should have been E = eye ocular system.
Page 2062, reference 49 should have been cited next to reference 48, and the citation of Table 4 and references 49 to 56 should have been removed (see bold for changes):
Nonsarcomeric HCM may show different types of inheritance, such as AD in PRKAG2-related HCM with WPW (43), AR in Friedrich ataxia (44), X-linked in Danon disease (45) and in Anderson Fabry disease (AFD) (46), AR in Pompe disease (47), or matrilineal (or maternal) in cardiomyopathies caused by mutations in the mitochondrial DNA (48,49) (Table 3, Fig. 5). Mitochondrial diseases constitute a large and heterogeneous group of complex diseases/syndromes (1 per 4,000 to 5,000 live births) caused by mutations of nuclear (inherited according to Mendelian rules) or mitochondrial (matrilineal inheritance with absence of male transmission) genes (Table 4) (49–56).
Page 2062, genotypes should have been changed to phenocopies, references 50 to 56 should have been cited, and Figure 7 citation should have been moved (see bold for changes).
The MOGE(S) system allows a comprehensive summary of the clinical and genetic status of the family once the diagnosis has been made and family screening completed. The availability of the functional status (S) becomes especially important in asymptomatic relatives with manifest causative gene defect. Both cardiac and extracardiac traits contribute to clinical recognition of phenocopies (Table 4) (35,50–56) (Fig. 7). A systematic approach leads to better characterization of cardiomyopathic disorder and could identify the need for pathological confirmation of the etiological basis of the disease, such as in AFD (Fig. 6) and in Danon Disease (Fig. 7). An accurate diagnosis is mandatory for genetic counseling and disease management; for example, the availability of enzyme replacement therapy in AFD may change the natural history of the disease and prevent (or delay) the end-stage disease.
Page 2062, Figure 8 citation should have been moved (see bold for changes).
The differential diagnosis of desminopathy is based on the presence of AVB and its association with myopathy; a fine-needle biopsy of the skeletal muscle immunostained with anti-desmin antibodies may provide the final diagnosis (Fig. 8). Alternatively, endomyocardial biopsy may demonstrate intracellular osmiophilic granulofilamentous inclusions that immunoreact with anti-desmin antibodies (Fig. 8).
Page 2063, reference 66 should have been removed (see bold for changes).
The most common disease gene is Lamin A/C, and the laminopathy constitutes 8% of all DCMs (66).
Figure 7, the correct figure and legend are printed below:
Figure 8, the correct figure and legend are printed below:
Figure 10, the correct figure and legend are printed below:
- American College of Cardiology Foundation