T9957C-F1

**Figure 1\. Pedigree diagram for family T9957C\-F1\.**

![](/media/202606/e6dbc8d666ad4440a5b6ee57b78ac8436645.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9957 | m.9957T\>C | T9957C\-F1 | Italy | Hypertrophic cardiomyopathy with late congestive heart failure | 1 | 4 | 1998 | [10065021](https://pubmed.ncbi.nlm.nih.gov/10065021/) | b\-MHC gene mutation |

The **m.9957T\>C** variant in MT\-CO3 was reported in family T9957C\-F1 from Italy with hypertrophic cardiomyopathy with late congestive heart failure. The pedigree record reported 1 unaffected and 4 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was hypertrophic cardiomyopathy with end\-stage congestive heart failure, complete av block with permanent pacemaker, heart transplantation, died of sepsis after transplant, asymmetrical hcm, supraventricular tachycardia, transcatheter radiofrequency ablation, calcium channel blocker treatment.

# 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 | 9957 | m.9957T\>C | T9957C\-F1 | T9957C\-F1\-II1 | Fam | F | ND | Y | A | 55 | 45% | 70% | / | 64%(heart) | Hypertrophic cardiomyopathy with end\-stage congestive heart failure; complete AV block with permanent pacemaker; heart transplantation | b\-MHC gene mutation |
| 2 | 9957 | m.9957T\>C | T9957C\-F1 | T9957C\-F1\-III1 | Fam | M | ND | Y | D | 31 | 48% | 82% | / | 92%(heart) | Hypertrophic cardiomyopathy with end\-stage congestive heart failure; complete AV block with permanent pacemaker; heart transplantation; died of sepsis after transplant | b\-MHC gene mutation |
| 3 | 9957 | m.9957T\>C | T9957C\-F1 | T9957C\-F1\-III2 | Fam | F | N | Y | A | 31 | / | / | / | / | Asymmetrical HCM; supraventricular tachycardia; transcatheter radiofrequency ablation; calcium channel blocker treatment | b\-MHC gene mutation |

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