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.
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.
Authors: Neda Rastegar; Jeremy R Burt; Celia P Corona-Villalobos; Anneline S Te Riele; Cynthia A James; Brittney Murray; Hugh Calkins; Harikrishna Tandri; David A Bluemke; Stefan L Zimmerman; Ihab R Kamel Journal: Radiographics Date: 2014-10 Impact factor: 5.333
Authors: Ronald Ng; Heather Manring; Nikolaos Papoutsidakis; Taylor Albertelli; Nicole Tsai; Claudia J See; Xia Li; Jinkyu Park; Tyler L Stevens; Prameela J Bobbili; Muhammad Riaz; Yongming Ren; Christopher E Stoddard; Paul Ml Janssen; T Jared Bunch; Stephen P Hall; Ying-Chun Lo; Daniel L Jacoby; Yibing Qyang; Nathan Wright; Maegen A Ackermann; Stuart G Campbell Journal: JCI Insight Date: 2019-06-13
Authors: Anneline S J M te Riele; Cynthia A James; Neda Rastegar; Aditya Bhonsale; Brittney Murray; Crystal Tichnell; Daniel P Judge; David A Bluemke; Stefan L Zimmerman; Ihab R Kamel; Hugh Calkins; Harikrishna Tandri Journal: J Am Coll Cardiol Date: 2014-07-22 Impact factor: 24.094