G7697A-F1

**Figure 1\. Pedigree diagram for family G7697A\-F1\.**

![](/media/202607/1c52700ba4a64c5aa19f65153a48dd523129.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7697 | m.7697G\>A | G7697A\-F1 | China | Familial hypertrophic cardiomyopathy | 13 | 5 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) |  |

The **m.7697G\>A** variant in MT\-CO2 was reported in family G7697A\-F1 from China with familial hypertrophic cardiomyopathy. The pedigree record reported 13 unaffected and 5 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was mitral regurgitation, aortic regurgitation, tricuspid regurgitation, af, pah, cva, papillary muscle enlargement, malposition in lv.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-II1 | Fam | F | N | Y | A | 72 | \+ | / | / | B ND | Mitral regurgitation; aortic regurgitation; tricuspid regurgitation; AF |  |
| 2 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-II2 | Fam | F | N | Y | A | 58 | \+ | / | / | B ND | Mitral regurgitation; tricuspid regurgitation; PAH; AF |  |
| 3 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-III1 | Fam | F | N | Y | A | 46 | \+ | / | / | B ND | Mitral regurgitation |  |
| 4 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-III2 | Fam | M | N | Y | A | 43 | \+ | / | / | B ND | Mitral regurgitation |  |
| 5 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-III3 | Fam | M | Y | Y | A | 53 | \+ | / | / | B ND | Mitral regurgitation; PAH; AF; CVA |  |
| 6 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-IV1 | Fam | F | N | Y | A | 25 | \+ | / | / | B ND | Papillary muscle enlargement; malposition in LV |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).