Entry - %602086 - ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3 - OMIM

 
ICD+
% 602086

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3


Alternative titles; symbols

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3; ARVC3


Cytogenetic location: 14q12-q22     Genomic coordinates (GRCh38): 14:24,100,001-57,600,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q12-q22 Arrhythmogenic right ventricular dysplasia 3 602086 AD 2
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal dominant
CARDIOVASCULAR
Heart
- Arrhythmogenic right ventricular cardiomyopathy
- Right ventricular dilatation
- Atrial fibrillation
- Ventricular tachycardia
- Left bundle branch block
- Late potentials seen on signal-averaged ECG
- Hypokinesis
- Fibro-fatty infiltration seen on endomyocardial biopsy
NEUROLOGIC
Central Nervous System
- Syncope
MISCELLANEOUS
- Based on a report of 3 families (Italian, Slovian, and Belgian)
▲ Close

▼ TEXT

For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).

▼ Mapping

The existence of a novel ARVD locus on chromosome 14, in addition to ARVD1 at 14q23-q24, was suggested by study of 3 small families by Severini et al. (1996). The 3 families were of various descent: Italian, Slovenian, and Belgian. There was a cumulative 2-point lod score of 3.26 for D14S252 with no recombination. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in a region between D14S252 and D14S257, mapping ARVD3 to 14q12-q22.


▼ REFERENCES

  1. Severini, G. M., Krajinovic, M., Pinamonti, B., Sinagra, G., Fioretti, P., Brunazzi, M. C., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L., Heart Muscle Disease Study Group. A new locus for the arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics 31: 193-200, 1996. [PubMed: 8824801, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 10/27/1997
Edit History:
alopez : 03/15/2010
joanna : 3/18/2004
mgross : 1/5/2000
mark : 10/27/1997

% 602086

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3


Alternative titles; symbols

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3; ARVC3


ORPHA: 217656;   DO: 0110072;  


Cytogenetic location: 14q12-q22     Genomic coordinates (GRCh38): 14:24,100,001-57,600,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q12-q22 Arrhythmogenic right ventricular dysplasia 3 602086 Autosomal dominant 2

TEXT

For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).

Mapping

The existence of a novel ARVD locus on chromosome 14, in addition to ARVD1 at 14q23-q24, was suggested by study of 3 small families by Severini et al. (1996). The 3 families were of various descent: Italian, Slovenian, and Belgian. There was a cumulative 2-point lod score of 3.26 for D14S252 with no recombination. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in a region between D14S252 and D14S257, mapping ARVD3 to 14q12-q22.


REFERENCES

  1. Severini, G. M., Krajinovic, M., Pinamonti, B., Sinagra, G., Fioretti, P., Brunazzi, M. C., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L., Heart Muscle Disease Study Group. A new locus for the arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics 31: 193-200, 1996. [PubMed: 8824801] [Full Text: https://doi.org/10.1006/geno.1996.0031]


Creation Date:
Victor A. McKusick : 10/27/1997

Edit History:
alopez : 03/15/2010
joanna : 3/18/2004
mgross : 1/5/2000
mark : 10/27/1997



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 5, 2024