| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (23.3%) |
29704693 |
Cardiac Arrest During Spine Surgery in the Prone Position: Case Report and Review of the Literature. Staartjes VE, Schillevoort SA, Blum PG, van Tintelen JP, Kok WE, Schroder ML. World Neurosurg. 2018;115:460-467.e1. |
| Cardiac arrest Spondylolisthesis | ||
| Cardiac Arrest Females Homo sapiens Intraoperative Complications Middle Aged Neurosurgical Procedures Prone Position Spondylolisthesis | ||
| 1 (23.3%) |
27167729 |
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. Akinci G, Topaloglu H, Akinci B, Onay H, Karadeniz C, Ergul Y, Demir T, Ozcan EE, Altay C, Atik T, Garg A. Eur J Med Genet. 2016;59(6-7):320-4. |
| Insulin resistance Scoliosis | ||
| CAVIN1 | ||
| c|INS|481_482|GTGA c|SUB|C|259|T p|FS|K|161|S|41 p|SUB|Q|87|* | ||
| Cardiac Arrhythmia Females Homo sapiens Homozygote Insulin Resistance Mutation RNA-Binding Proteins Tachycardia, Ventricular | ||
| 3 (4.0%) |
31020160 |
Asymptomatic ventricular tachycardia: diagnostic pitfalls of Andersen-Tawil syndrome-a case report. Nguyen D, Ferns SJ. Eur Heart J Case Rep. 2018;2(3):yty083. |
| Prolonged QT interval | ||
| KCNJ2 | ||
| p|SUB|D|71|N;RS#:199473369 | ||
| 3 (4.0%) |
30849713 |
Ryanodine receptor 2 (RYR2) mutation: A potentially novel neurocardiac calcium channelopathy manifesting as primary generalised epilepsy. Yap SM, Smyth S. Seizure. 2019;67:11-14. |
| Seizure | ||
| RYR2 | ||
| c|SUB|G|229|A p|SUB|A|77|T | ||
| Adult Cardiac Arrhythmia Channelopathies Differential Diagnosis Epilepsy, Generalized Females Homo sapiens Mutation Ryanodine Receptor Calcium Release Channel | ||
| 3 (4.0%) |
30729048 |
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. Fujisawa T, Aizawa Y, Katsumata Y, Udo A, Ito S, Hatakeyama K, Hirose M, Miyama H, Nakajima K, Nishiyama T, Kimura T, Nitta M, Misumi K, Takatsuki S, Kosaki K, Fukuda K. Case Rep Genet. 2019;2019:9056596. |
| Syncope | ||
| CASQ2 | ||
| p|SUB|W|361|X | ||
| 3 (4.0%) |
30546525 |
High-dose flecainide with low-dose beta-blocker therapy in catecholaminergic polymorphic ventricular tachycardia: A case report and review of the literature. Steinfurt J, Dechant MJ, Bockelmann D, Zumhagen S, Stiller B, Schulze-Bahr E, Bode C, Odening KE. J Cardiol Cases. 2015;11(1):10-13. |
| Sudden cardiac death | ||
| 3 (4.0%) |
30532865 |
Inefficacious ICD shocks treated with left cardiac sympathetic denervation in a patient with catecholaminergic polymorphic ventricular tachycardia. Sorgente A, de Asmundis C, Bayrak F, Chierchia GB, Sarkozy A, Noppen M, Brugada P. J Cardiol Cases. 2011;4(1):e34-e37. |
| Shock | ||
| 3 (4.0%) |
30296944 (6176516) |
Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report. Seidlmayer LK, Riediger F, Pagonas N, Nordbeck P, Ritter O, Sasko B. J Med Case Rep. 2018;12(1):298. |
| Syncope | ||
| Electric Countershock Electrocardiography Exercise Homo sapiens Male Point Mutation Ryanodine Receptor Calcium Release Channel Secondary Prevention Sudden Cardiac Death Tachycardia, Ventricular | ||
| 3 (4.0%) |
30157307 |
Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11- and 15-year-old sisters. Fujita S, Nishida K, Irabu H, Nakagawa R, Futatani T, Igarashi N, Usuda K, Nagata Y, Ohno S, Horie M, Hatasaki K. Pediatr Int. 2018;60(11):998-1001. |
| Syncope | ||
| Child Diagnostic Errors Epilepsy Females Homo sapiens Tachycardia, Ventricular | ||
| 3 (4.0%) |
30116135 |
A rare cause of sudden cardiac arrest: Catecholaminergic polymorphic ventricular tachycardia. Atik SU, Alp FE, Dedeoglu R, Koka A, Oztunc F, Eroglu AG. Turk Pediatri Ars. 2018;53(2):124-128. |
| Syncope | ||
| RYR2 | ||
| c|SUB|G|9110|A p|SUB|G|3037|D | ||
Total: 4
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0004756 | Ventricular tachycardia | Very frequent (99-80%) |
| HP:0002321 | Vertigo | Frequent (79-30%) |
| HP:0001279 | Syncope | Occasional (29-5%) |
| HP:0001645 | Sudden cardiac death | Occasional (29-5%) |
Total: 22
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001279 | Syncope | 15 |
| HP:0011675 | Arrhythmia | 13 |
| HP:0001645 | Sudden cardiac death | 9 |
| HP:0001695 | Cardiac arrest | 7 |
| HP:0004308 | Ventricular arrhythmia | 7 |
| HP:0031273 | Shock | 7 |
| HP:0004756 | Ventricular tachycardia | 6 |
| HP:0031677 | Polymorphic ventricular tachycardia | 5 |
| HP:0001663 | Ventricular fibrillation | 4 |
| HP:0005110 | Atrial fibrillation | 3 |
| HP:0012819 | Myocarditis | 3 |
| HP:0001649 | Tachycardia | 2 |
| HP:0001657 | Prolonged QT interval | 2 |
| HP:0004757 | Paroxysmal atrial fibrillation | 2 |
| HP:0000739 | Anxiety | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001962 | Palpitations | 1 |
| HP:0002900 | Hypokalemia | 1 |
| HP:0004758 | Effort-induced polymorphic ventricular tachycardia | 1 |
| HP:0011703 | Sinus tachycardia | 1 |
| HP:0011704 | Sick sinus syndrome | 1 |
| HP:0031628 | Aborted sudden cardiac death | 1 |