Morphologic Variants of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. A Genetics-Magnetic Resonance Imaging Correlation Study

Darshan Dalal, Harikrishna Tandri, Daniel P. Judge, Nuria Amat, Robson Macedo, Rahul Jain, Crystal Tichnell, Amy Daly, Cynthia James, Stuart D. Russell, Theodore Abraham, David A. Bluemke, Hugh Calkins

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1289-1299
Number of pages11
JournalJournal of the American College of Cardiology
Volume53
Issue number15
DOIs
StatePublished - Apr 14 2009

Keywords

  • arrhythmia
  • cardiomyopathy
  • diagnosis
  • genetics
  • magnetic resonance imaging

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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