Heterogeneity of Clinical Manifestation of Hypertrophic Cardiomyopathy Caused by Deletion of Lysine 183 in Cardiac Troponin I Gene Insight From Two Autopsy Cases With an Identical Sarcomeric Gene Mutation

Akira Funada; Eiichi Masuta; Noboru Fujino; Kenshi Hayashi; Hidekazu Ino; Yoshihito Kita; Hiroko Ikeda; Takahiko Fujii; Yasuni Nakanuma; Masakazu Yamagishi

doi:10.1536/ihj.51.214

Case Reports

Heterogeneity of Clinical Manifestation of Hypertrophic Cardiomyopathy Caused by Deletion of Lysine 183 in Cardiac Troponin I Gene

Insight From Two Autopsy Cases With an Identical Sarcomeric Gene Mutation

Akira Funada, Eiichi Masuta, Noboru Fujino, Kenshi Hayashi, Hidekazu Ino, Yoshihito Kita, Hiroko Ikeda, Takahiko Fujii, Yasuni Nakanuma, Masakazu Yamagishi

Author information

Akira Funada
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine
Eiichi Masuta
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine
Noboru Fujino
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine
Kenshi Hayashi
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine
Hidekazu Ino
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine
Yoshihito Kita
Department of Internal Medicine, Wajima Municipal Hospital
Hiroko Ikeda
Department of Human Pathology, Kanazawa University Graduate School of Medicine
Takahiko Fujii
Department of Human Pathology, Kanazawa University Graduate School of Medicine
Yasuni Nakanuma
Department of Human Pathology, Kanazawa University Graduate School of Medicine
Masakazu Yamagishi
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine

Keywords: Dilated phase of hypertrophic cardiomyopathy, Histology, Fibrosis

JOURNAL FREE ACCESS

2010 Volume 51 Issue 3 Pages 214-217

DOI https://doi.org/10.1536/ihj.51.214

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Abstract

Hypertrophic cardiomyopathy (HCM) is associated with gene mutations that encode sarcomeric proteins. However, the relationship between genotype and histopathologic findings is unclear. We report on two autopsy cases with advanced HCM associated with deletion of lysine 183 mutation in the cardiac troponin I gene. One case, a 74-year-old female exhibited dilated cardiomyopathy-like features. Transmural scarring was diffuse and circumferential, involving the whole left ventricle, especially the ventricular septum which was replaced with extensive fibrosis and showed marked wall thinning. The other case, a 92-year-old male revealed typical HCM findings. Patchy scars which corresponded to replacement fibrosis were found extending from the septum to the anterior wall. These two autopsy cases indicate the clinical heterogeneity of HCM even within the same disease-causing mutation and suggest that the degree and extent of fibrosis determine differences in the clinical manifestations of HCM. This is the first autopsy report that demonstrates identical sarcomeric gene mutations causing different clinical manifestations and histologic findings. The findings suggest that additional genetic or environmental factors influence the phenotypic expressions and clinical courses of HCM caused by genetic mutation of sarcomeric proteins.

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