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Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.

Publication ,  Journal Article
Dalal, D; Tandri, H; Judge, DP; Amat, N; Macedo, R; Jain, R; Tichnell, C; Daly, A; James, C; Russell, SD; Abraham, T; Bluemke, DA; Calkins, H
Published in: J Am Coll Cardiol
April 14, 2009

OBJECTIVES: The purpose of this study was to determine the extent of left ventricular (LV) involvement in individuals predisposed to developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), and to investigate novel morphologic variants of ARVD/C. BACKGROUND: The discovery of desmosomal mutations associated with ARVD/C has led researchers to hypothesize equal right ventricular (RV) and LV affliction in the disease process. METHODS: Thirty-eight (age 30 +/- 17 years; 18 males) family members of 12 desmosomal mutation-carrying ARVD/C probands underwent genotyping and cardiac magnetic resonance imaging (CMR). The CMR investigators were blinded to clinical and genetic data. RESULTS: Twenty-five individuals had mutations in PKP2, DSP, and/or DSG2 genes. RV abnormalities were associated with the presence of mutation(s) and with disease severity determined by criteria (minor = 1; major = 2) points for ARVD/C diagnosis. The only LV abnormality detected, the presence of intramyocardial fat, was present in 4 individuals. Each of these individuals was a mutation carrier, whereas 1 had no previously described ARVD/C-related abnormality. On detailed CMR, a focal "crinkling" of the RV outflow tract and subtricuspid regions ("accordion sign") was observed in 60% of the mutation carriers and none of the noncarriers (p < 0.001). The sign was present in 0%, 37%, 71%, and 75% of individuals who met 1, 2, 3, and 4+ criteria points, respectively (p < 0.01). CONCLUSIONS: Despite a possible LV involvement in ARVD/C, the overall LV structure and function are well preserved. Independent LV involvement is of rare occurrence. The accordion sign is a promising tool for early diagnosis of ARVD/C. Its diagnostic utility should be confirmed in larger cohorts.

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Published In

J Am Coll Cardiol

DOI

EISSN

1558-3597

Publication Date

April 14, 2009

Volume

53

Issue

15

Start / End Page

1289 / 1299

Location

United States

Related Subject Headings

  • Young Adult
  • Ventricular Dysfunction, Left
  • Mutation
  • Middle Aged
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Genotype
  • Genetic Predisposition to Disease
  • Female
 

Citation

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Dalal, D., Tandri, H., Judge, D. P., Amat, N., Macedo, R., Jain, R., … Calkins, H. (2009). Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. J Am Coll Cardiol, 53(15), 1289–1299. https://doi.org/10.1016/j.jacc.2008.12.045
Dalal, Darshan, Harikrishna Tandri, Daniel P. Judge, Nuria Amat, Robson Macedo, Rahul Jain, Crystal Tichnell, et al. “Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.J Am Coll Cardiol 53, no. 15 (April 14, 2009): 1289–99. https://doi.org/10.1016/j.jacc.2008.12.045.
Dalal D, Tandri H, Judge DP, Amat N, Macedo R, Jain R, et al. Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. J Am Coll Cardiol. 2009 Apr 14;53(15):1289–99.
Dalal, Darshan, et al. “Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.J Am Coll Cardiol, vol. 53, no. 15, Apr. 2009, pp. 1289–99. Pubmed, doi:10.1016/j.jacc.2008.12.045.
Dalal D, Tandri H, Judge DP, Amat N, Macedo R, Jain R, Tichnell C, Daly A, James C, Russell SD, Abraham T, Bluemke DA, Calkins H. Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. J Am Coll Cardiol. 2009 Apr 14;53(15):1289–1299.
Journal cover image

Published In

J Am Coll Cardiol

DOI

EISSN

1558-3597

Publication Date

April 14, 2009

Volume

53

Issue

15

Start / End Page

1289 / 1299

Location

United States

Related Subject Headings

  • Young Adult
  • Ventricular Dysfunction, Left
  • Mutation
  • Middle Aged
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Genotype
  • Genetic Predisposition to Disease
  • Female