- Email: [email protected]
Re: Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy
Letters to the Editor / Cardiovascular Pathology 20 (2011) 386–388
387
Fig. 1. Photomicrographs show subendocardial collections of large polygonal foamy-appearing cells (A; H&E ×100); cells have abundant amount of vacuolated cytoplasm (B; H&E ×400). The cells are positive for desmin immunostain (C) and negative for CD68 (D).
References [1] Shehata BM, Patterson K, Thomas JE, et al. Histiocytoid cardiomyopathy: three new cases and a review of the literature. Pediatr Dev Pathol 1998:56–69. [2] Vallance HD, Jeven G, Wallace DC, Brown MD. A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. Pediatr Cardiol 2004;25:538–40. [3] Burke A, Virmani R. Pediatric heart tumors. Cardiovasc Pathol 2008;17: 193–8.
Re: Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy To the Editor: We read with interest the case reports by Roberts et al. in the September issue of Cardiovascular Pathology [1]. The authors describe two explant cases of cardiomyopathy that had morphologic features of arrhythmogenic right ventricular cardiomyopathy (ARVC), i.e., fibrofatty replacement of the ventricular walls. However, data from genetic testing, histologic evaluation, and family history led to diagnoses of hypertrophic cardiomyopathy (HC) and PRKAG2 cardiac syndrome, respectively, in these two patients.
Our group has recently published a large series of patients dying suddenly with HC [2]. Of 71 cases, fibrofatty changes that morphologic mimicked ARVC were found in 1 of 34 sudden deaths at rest and 2 of 38 exertional deaths in hearts that otherwise demonstrated typical features of HC. These cases highlight the fact that fibrofatty change may not be specific for ARVC, and that phenotypic expression of cardiomyopathy may be divergent in an individual case. The classification of cardiomyopathies may be imprecise at autopsy and even in explants. These cases underscore the need for continued morphologic characterization of cardiomyopathy, in conjunction with genetic testing. Only then will we unravel the complexities of the relationship between genotype and phenotypic expression that results in morphologic changes, imaging characteristics, and clinical syndrome. Fabio Tavora Allen Burke Department of Pathology University of Maryland Medical Center Baltimore, MD E-mail address: [email protected]
388
Letters to the Editor / Cardiovascular Pathology 20 (2011) 386–388
Joao Bosco Oliveira Department of Laboratory Medicine Clinical Center, National Institutes of Health Bethesda, MD
doi:10.1016/j.carpath.2010.11.002
References [1] Roberts JD, Veinot JP, Rutberg J, Gollob MH. Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2010;19:316–20. [2] Tavora F, Cresswell N, Li L, Ripple M, Fowler D, Burke A. Morphologic features of exertional versus nonexertional sudden death in patients with hypertrophic cardiomyopathy. Am J Cardiol 2010;105:532–7.
387
Fig. 1. Photomicrographs show subendocardial collections of large polygonal foamy-appearing cells (A; H&E ×100); cells have abundant amount of vacuolated cytoplasm (B; H&E ×400). The cells are positive for desmin immunostain (C) and negative for CD68 (D).
References [1] Shehata BM, Patterson K, Thomas JE, et al. Histiocytoid cardiomyopathy: three new cases and a review of the literature. Pediatr Dev Pathol 1998:56–69. [2] Vallance HD, Jeven G, Wallace DC, Brown MD. A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. Pediatr Cardiol 2004;25:538–40. [3] Burke A, Virmani R. Pediatric heart tumors. Cardiovasc Pathol 2008;17: 193–8.
Re: Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy To the Editor: We read with interest the case reports by Roberts et al. in the September issue of Cardiovascular Pathology [1]. The authors describe two explant cases of cardiomyopathy that had morphologic features of arrhythmogenic right ventricular cardiomyopathy (ARVC), i.e., fibrofatty replacement of the ventricular walls. However, data from genetic testing, histologic evaluation, and family history led to diagnoses of hypertrophic cardiomyopathy (HC) and PRKAG2 cardiac syndrome, respectively, in these two patients.
Our group has recently published a large series of patients dying suddenly with HC [2]. Of 71 cases, fibrofatty changes that morphologic mimicked ARVC were found in 1 of 34 sudden deaths at rest and 2 of 38 exertional deaths in hearts that otherwise demonstrated typical features of HC. These cases highlight the fact that fibrofatty change may not be specific for ARVC, and that phenotypic expression of cardiomyopathy may be divergent in an individual case. The classification of cardiomyopathies may be imprecise at autopsy and even in explants. These cases underscore the need for continued morphologic characterization of cardiomyopathy, in conjunction with genetic testing. Only then will we unravel the complexities of the relationship between genotype and phenotypic expression that results in morphologic changes, imaging characteristics, and clinical syndrome. Fabio Tavora Allen Burke Department of Pathology University of Maryland Medical Center Baltimore, MD E-mail address: [email protected]
388
Letters to the Editor / Cardiovascular Pathology 20 (2011) 386–388
Joao Bosco Oliveira Department of Laboratory Medicine Clinical Center, National Institutes of Health Bethesda, MD
doi:10.1016/j.carpath.2010.11.002
References [1] Roberts JD, Veinot JP, Rutberg J, Gollob MH. Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2010;19:316–20. [2] Tavora F, Cresswell N, Li L, Ripple M, Fowler D, Burke A. Morphologic features of exertional versus nonexertional sudden death in patients with hypertrophic cardiomyopathy. Am J Cardiol 2010;105:532–7.