Diseases of the circulatory system
Other forms of heart disease
Autosomal dominant
19q13.42
Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Familial hypertrophic cardiomyopathy-7 is caused by heterozygous mutation in the TNNI3 gene. (From OMIM)
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613690.1 | Lebanon | Female | Yes | No | Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy;  | NM_000363.5:c.61C>T | Heterozygous | Autosomal, Dominant | Fahed et al. 2020 | Similarly affected f... |
| 613690.G.1 | Lebanon | Yes | No | Hypertrophic cardiomyopathy; Sudden car... Hypertrophic cardiomyopathy; Sudden cardiac death; | NM_000363.5:c.61C>T | Heterozygous | Autosomal, Dominant | Fahed et al. 2020 | Pedigree with 25 aff... | |
| 613690.G.2 | Lebanon | Yes | No | Hypertrophic cardiomyopathy; Sudden car... Hypertrophic cardiomyopathy; Sudden cardiac death; | NM_000363.5:c.61C>T | Heterozygous | Autosomal, Dominant | Fahed et al. 2020 | Pedigree with 19 aff... | |
| 613690.G.3 | Lebanon | Yes | No | Hypertrophic cardiomyopathy; Sudden car... Hypertrophic cardiomyopathy; Sudden cardiac death; | NM_000363.5:c.61C>T | Heterozygous | Autosomal, Dominant | Fahed et al. 2020 | Pedigree with 10 aff... | |
| 613690.G.4 | Lebanon | Yes | No | Hypertrophic cardiomyopathy; Sudden car... Hypertrophic cardiomyopathy; Sudden cardiac death; | NM_000363.5:c.61C>T | Heterozygous | Autosomal, Dominant | Fahed et al. 2020 | Pedigree with 9 affe... |