Fatty Acid Accumulation and Resulting PPARα Activation in Fibroblasts due to Trifunctional Protein Deficiency by Masato Wakabayashi, Yuji Kamijo, Takero Nakajima, Naoki Tanaka, Eiko Sugiyama, Tian Yangyang, Takefumi Kimura, Toshifumi Aoyama

“…These novel findings suggest that the fatty acid accumulation and the resulting PPARα activation are major causes of the increase in the β-oxidation ability as probable compensation for fatty acid metabolism in the patients’ fibroblasts, and that enhanced cell proliferation and increased oxidative stress due to the PPARα activation relate to the development of specific clinical features such as hypertrophic cardiomyopathy, slight hepatomegaly, and skeletal myopathy. …”
Get full text

One-year mortality and re-admission rate by disease etiology in National Heart Failure Registry of India by Sivadasanpillai Harikrishnan, Ajay Bahl, Ambuj Roy, Animesh Mishra, Jayesh Prajapati, CN Manjunath, Rishi Sethi, Santanu Guha, Santhosh Satheesh, RS Dhaliwal, Meenakshi Sharma, Sanjay Ganapathy, Panniyammakal Jeemon

“…Ischemic heart disease (71.9%), dilated cardiomyopathy (17.3), rheumatic heart disease (5.4), non-rheumatic valvular heart disease (1.9), hypertrophic cardiomyopathy (0.8), congenital heart disease (0.7), peri-partum cardiomyopathy (0.5), restrictive cardiomyopathy (0.4), and infective endocarditis (0.1) were the main disease etiologies. …”
Get full text

Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024 by Huixi Ma, Yun Wang, Yang Jia, Linjun Xie, Lini Liu, Dingyi Zhang, Xinyue Ma, Yingkun Guo, Rong Xu

“…There were 5,757 publications were screened and aggregated in the database, including 1876 reviews and 3,881 articles. Hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), Brugada syndrome (BrS), myocardial amyloidosis, and Fabry disease (FD) were the main types of HHD that were explored in greater depth. …”
Get full text

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

“…ABSTRACT Background Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. …”
Get full text

Advantages of using T1-mapping in cardiac magnetic resonance imaging in patients with acromegaly by Alina A. Almaskhanova, Konstantin V. Melkozerov, Elena G. Przhiyalkovskaya, Natalia V. Tarbaeva, Anastasya Y. Korneluk, Raisa S. Kosharnaia, Victor Y. Kalashnikov, Zhanna E. Belaya, Galina A. Mel'nichenko, Natalia G. Mokrysheva

“…The obtained information is crucial for the diagnosis and prognostic assessment of heart diseases, particularly in cases of hypertrophic cardiomyopathy or infiltrative diseases. The T1-mapping method, which is actively developing, can serve as a marker for early diffuse myocardial fibrosis and help determine the prognosis for patients with acromegalic cardiomyopathy.…”
Get full text

A novel marker to determine arrhytmia risk in elite cyclists: T peak T end by Bulent Isık, Z. İsik Solak Gormus, Huseyin Aslan, Abdullah Iclı, Galip Bilen Kurklu, Ozgur Cıftcı, Turhan Togan

“…In athletes, left ventricular hypertrophy is a physiological response upon routine active sports. If the hypertrophic cardiomyopathy is not diagnosed and treated, it can lead to sudden deaths in athletes. …”
Get full text

Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant by Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Sakata

“…These patients were clinically diagnosed with arrhythmogenic right ventricular cardiomyopathy (Pt-1), dilated cardiomyopathy (DCM) after ventricular septum defect closure surgery (Pt-2), DCM (Pt-3), and end-stage hypertrophic cardiomyopathy (Pt-4). The patients also exhibited reduced left ventricular contractile function and varying clinical courses. …”
Get full text

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

“…Notably, previous studies demonstrated osteopenia and male‐specific cardiac death in mice lacking the ZnT5/SLC30A5 zinc transporter, and suggested association of two homozygous frameshift SLC30A5 variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy. We set out to decipher the molecular basis of a severe hypotonia syndrome. …”
Get full text

Cardiac secreted HSP90α exacerbates pressure overload myocardial hypertrophy and heart failure by Le Pan, Chenxing Huang, Xuejuan Jin, Jian Wu, Kejia Jin, Jingyi Lin, Ying Wang, Jianxuan Li, Chao Yin, Xiang Wang, Lei Zhang, Guoping Zhang, Hangming Dong, Junli Guo, Issei Komuro, Yuxiang Dai, Yunzeng Zou, Hui Gong

“…Similarly, HSP90α levels increased in heart tissues from patients with obstructive hypertrophic cardiomyopathy (HCM), and in mice post-TAC. TAC induced the enhanced cardiac expression and secretion of HSP90α from cardiomyocytes and cardiac fibroblasts. …”
Get full text