| H00729 | |
| H番号 | H00729 |
| 名称 | 洞不全症候群 |
| 概要 | Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations on electrocardiogram, including sinus bradycardia, sinus arrest, sinoatrial block, and alternating patterns of bradycardia and tachycardia. Autosomal recessive type (SSS1) can be caused by compound heterozygous mutation in the SCN5A gene, and autosomal dominant type (SSS2) can be caused by heterozygous mutation in the HCN4. SCN5A encodes an alpha-subunit of the cardiac sodium channel carrying the current to form a rapid upstroke of action potential, whereas HCN4 codes for an alpha-subunit of hyperpolarization-activated cation channel. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (SSS1) SCN5A [HSA:6331] [KO:K04838] (SSS2) HCN4 [HSA:10021] [KO:K04957] (SSS3) MYH6 [HSA:4624] [KO:K17751] (SSS4) GNB2 [HSA:2783] [KO:K04537] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: BC80.20 OMIM: 608567 163800 614090 619464 |
| 文献 | PMID:12725451 著者 Adan V, Crown LA タイトル Diagnosis and treatment of sick sinus syndrome. 雑誌 Am Fam Physician 67:1725-32 (2003) PMID:14523039 (SCN5A) 著者 Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr タイトル Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 雑誌 J Clin Invest 112:1019-28 (2003) DOI:10.1172/JCI18062 PMID:15123648 (HCN4) 著者 Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesato Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A タイトル Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 雑誌 J Biol Chem 279:27194-8 (2004) DOI:10.1074/jbc.M311953200 PMID:21378987 (MYH6) 著者 Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K タイトル A rare variant in MYH6 is associated with high risk of sick sinus syndrome. 雑誌 Nat Genet 43:316-20 (2011) DOI:10.1038/ng.781 PMID:28219978 (GNB2) 著者 Stallmeyer B, Kuss J, Kotthoff S, Zumhagen S, Vowinkel K, Rinne S, Matschke LA, Friedrich C, Schulze-Bahr E, Rust S, Seebohm G, Decher N, Schulze-Bahr E タイトル A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction. 雑誌 Circ Res 120:e33-e44 (2017) DOI:10.1161/CIRCRESAHA.116.310112 |