Arrhythmogenic right ventricular dysplasia classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Variants of arrhythmogenic right ventricular dysplasia can be classified based upon the genetic abnormality involved. So far, 12 variants have been identified.
The first classification was developed by Fontaine et al., based on a 9-year observation of 4 patients with different clinical course of ARVC. 3 clinical forms were identified. Three years later another variant of the ARVC classification was proposed, in which the RV and left ventricular forms were distinguished and a total of eleven different clinical forms were identified. None of these classifications was widely used in clinical practice, as they did not define prognosis and approaches to treatment. Thus, the development of clinical classification seems to us an important task and an ultimate challenge.
Classification
Variants of arrhythmogenic right ventricular dysplasia can be classified based upon the genetic abnormality involved into 12 variants:
| Variant | Associated mutation |
|---|---|
| ARVD1 | This variant is due to a heterozygous mutation in the TGFB3 gene |
| ARVD2 | Associated with a mutation in the RYR2 gene on chromosome 1q42-q43 |
| ARVD3 | Associated with a mutation in the chromosome 14q12-q22 region |
| ARVD4 | Associated with a mutation in the chromosome 2q32.1-q32.3 region |
| ARVD5 | Associated with a mutation in the TMEM43 gene on chromosome 3p23 region |
| ARVD6 | Associated with a mutation in the chromosome 10p14-p12 region |
| ARVD7 | Associated with a mutation in the chromosome 10q22.3 region |
| ARVD8 | Associated with a mutation in the DSP gene on chromosome 6p24 |
| ARVD9 | Associated with a mutation in the PKP2 gene on chromosome 12p11 |
| ARVD10 | Associated with a mutation in the DSG2 gene on chromosome 18q12.1-q12 |
| ARVD11 | Associated with a mutation in the DSC2 gene on chromosome 18q12.1 |
| ARVD12 | Associated with a mutation in the JUP gene on chromosome 17q21 |
Clinical classification:[1][2]
Based on the clinical manifistations and course of the disease, four clinical forms of ARVC have been identified
| Type | Characterestics |
|---|---|
| Latent arrhythmic form | Frequent PVCs and/or nonsustained VT in the absence of sustained VT and syncope |
| The manifested arrhythmic form | Sustained VT/ventricular fibrillation (VF) |
| ARVC with a progressive CHF | The main manifestation of the disease is CHF |
| ARVC in combination with LVNC |
In accordance with the peculiarities of clinical manifestations and course of the disease, we have identified 4 clinical forms of ARVC:
(I) Latent arrhythmic form – frequent PVCs and/or nonsustained VT in the absence of sustained VT and syncope;
(II) Manifested arrhythmic form – sustained VT/ventricular fibrillation (VF);
(III) ARVC with progressive CHF as the main manifestation of the disease;
(IV) Combination of ARVC with LVNC.
ARVD1
This variant is due to a heterozygous mutation in the TGFB3 gene (190230) on chromosome 14q24.
ARVD2
This variant (600996) is associated with a mutation in the RYR2 gene (180902) on chromosome 1q42-q43.
ARVD3
This variant (602086) is associated with a mutation in the chromosome 14q12-q22 region.
ARVD4
This variant (602087) is associated with a mutation in the chromosome 2q32.1-q32.3 region.
ARVD5
This variant (604400) is associated with a mutation in the TMEM43 gene (612048) on chromosome 3p23 region.
ARVD6
This variant (604401), is associated with a mutation in the chromosome 10p14-p12 region.
ARVD7
This variant 609160) is associated with a mutation in the chromosome 10q22.3 region.
ARVD8
This variant 607450) is associated with a mutation in the DSP gene (125647) on chromosome 6p24.
ARVD9
This variant (609040) is associated with a mutation in the PKP2 gene (602861) on chromosome 12p11.
ARVD10
This variant (610193) is associated with a mutation in the DSG2 gene (125671) on chromosome 18q12.1-q12.
ARVD11
This variant (610476) is associated with a mutation in the DSC2 gene (125645) on chromosome 18q12.1.
ARVD12
This variant (611528) is associated with a mutation in the JUP gene (173325) on chromosome 17q21.
References
- ↑ Fontaine G, Brestescher C, Fontaliran F, Himbert C, Tonet J, Frank R (1995). "[Outcome of arrhythmogenic right ventricular dysplasia. Apropos of 4 cases]". Arch Mal Coeur Vaiss. 88 (7): 973–9. PMID 7487328.
- ↑ Fontaine G, Fontaliran F, Frank R (1998). "Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses". Circulation. 97 (16): 1532–5. doi:10.1161/01.cir.97.16.1532. PMID 9593556.