Ebstein malformation of the tricuspid valve
ORPHA:1880Morphological anomalyAutosomal dominant, Not applicableAll ages
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)7
HP:0001622Premature birth
HP:0001631Atrial septal defect
HP:0002093Respiratory insufficiency
HP:0010316Ebstein anomaly of the tricuspid valve
HP:0011575Imperforate tricuspid valve
HP:0012378Fatigue
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)10
HP:0000961Cyanosis
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0001962Palpitations
HP:0005110Atrial fibrillation
HP:0005180Tricuspid regurgitation
HP:0011675Arrhythmia
HP:0011712Right bundle branch block
HP:0031667Holosystolic murmur
HP:0100749Chest pain
Периодический (5–29%)8
HP:0001635Congestive heart failure
HP:0001645Sudden cardiac death
HP:0002094Dyspnea
HP:0002637Cerebral ischemia
HP:0004306Abnormality of the endocardium
HP:0004420Arterial thrombosis
HP:0010741Pedal edema
HP:0012418Hypoxemia
Очень редкий (1–4%)2
HP:0001297Stroke
HP:0001658Myocardial infarction
Эпидемиология22
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.25 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.8 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 19.5 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.1 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.5 | Croatia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18.2 | Denmark | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.6 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.6 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.1 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 24.1 | Malta | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.7 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Poland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 27.2 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.5 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.5 | Ukraine | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.7 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.6 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | Norway | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)