Here I present: “Hypertrophic Cardiomyopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CMH) 肥厚性心肌病。icd10=I42.2
INTRODUCTION.
Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and fibrosis are the histopathologic hallmarks of this disorder.
Clinical features are diverse and include arrhythmias, sudden cardiac death, and heart failure. CMH is the most common cardiovascular genetic disease and the most common cause of sudden death in competitive athletes.
There is evidence hypertrophic cardiomyopathy type-21 is caused by mutation in the CMH21 gene on cytogenetic location 7p12.1-21 and genomic coordinates 7:50,500,001-98,400,000. The screenshot of the CMH21 gene 47,900,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CMH21 in the 7p12.1-q21 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:49,840,654 | ZPBP | Zona pellucida-binding protein |
| 7:50,303,455 | IKZF1 | Ikaros family zinc finger 1 |
| 7:50,444,133 | FIGNL1 | Fidgetin-like protein 1 |
| 7:50,458,442 | DDC | DOPA decarboxylase |
| 7:50,500,001 | CMH21 | Cardiomyopathy, familial hypertrophic, 21 |
| 7:50,590,068 | GRB10 | Growth factor receptor-bound protein-10 |
| 7:51,016,212 | COBL | Cordon-bleu, mouse, homolog of |
| 7:53,900,001 | HPC4 | Prostate cancer, hereditary, 4 |
| 7:53,900,001 | NYS3 | Nystagmus 3, congenital, autosomal dominant |
| 7:54,752,253 | SEC61G | SEC61 translocon, gamma subunit |
