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La tachicardia ventricolare polimorfa cate … La tachicardia ventricolare polimorfa catecolaminergica, nota anche con la sigla CPVT, dall'inglese Catecholaminergic Polymorphic Ventricular Tachycardia, è un disturbo aritmico ereditario del cuore che predispone i soggetti affetti a manifestare perdite di coscienza o arresto cardiaco durante attività fisica o in situazioni di stress emotivo improvviso. Il sintomo più comune è la sincope, che si manifesta già nella prima o nella seconda decade di vita. Il 60% degli individui affetti, infatti, presenta un episodio sincopale o un arresto cardiaco entro i 15 anni d'età. La CPVT è causata da mutazioni genetiche a carico dei geni codificanti per le proteine importanti per l'omeostasi del calcio intracellulare. La maggior parte dei casi di CPVT è causata da mutazioni a carico del gene RYR2 (a trasmissione autosomica dominante) e CASQ2 (a trasmissione autosomica recessiva), che causano la cosiddetta forma tipica della malattia. La malattia è stata descritta per la prima volta nel 1978 e la causa è stata identificata nel 2001 a Pavia. Le indagini di primo livello come l'ecocardiogramma e l'elettrocardiogramma a riposo non presentano alterazioni di rilievo. Il modo migliore per dimostrare la presenza delle aritmie tipiche della CPVT (in particolare della cosiddetta tachicardia ventricolare bidirezionale) e porre diagnosi clinica della CPVT è quello di registrare un elettrocardiogramma durante esercizio fisico.ttrocardiogramma durante esercizio fisico.
, La tachycardie ventriculaire polymorphe catécholergique est un trouble génétique du rythme cardiaque caractérisé par une instabilité électrique de la cellule musculaire cardiaque exacerbée par la stimulation du système nerveux sympathique.
, Wielokształtny częstoskurcz komorowy zależ … Wielokształtny częstoskurcz komorowy zależny od katecholamin (ang. Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT) – rzadka, genetycznie uwarunkowana choroba z grupy kanałopatii, objawiająca się częstoskurczem komorowym związanym z aktywacją adrenergiczną przy nieobecności wad strukturalnych serca. CPVT dziedziczy się autosomalnie dominująco. Przyczyną choroby jest najczęściej mutacja w genie kodującym białko receptora rianodynowego , w 1-2% jest to mutacja genu kalsekwestryny . jest białkiem sarkoplazmy wiążącym jony wapnia.białkiem sarkoplazmy wiążącym jony wapnia.
, تسرع القلب البطيني الكاتيكولاميني متعدد ال … تسرع القلب البطيني الكاتيكولاميني متعدد الأشكال (بالإنجليزية: Catecholaminergic polymorphic ventricular tachycardia)أو تسرع القلب البطيني العائلي متعدد الأشكال (بالإنجليزية: familial polymorphic ventricular tachycardia) هو اضطراب يتميز بإيقاع غير منظم للقلب. ويُعتقد أنه يؤثر على ما يصل إلى واحد كل عشرة آلاف شخص، ويسبب 15٪ من جميع الوفيات القلبية المفاجئة غير المبررة في الشباب. عُرف المرض لأول مرة في عام 1975، ويرجع سببه إلى الطفرات في الجينات ترميز قنوات الكالسيوم أو البروتينات المتعلقة بهذه القنوات. حيث تشارك هذه البروتينات في تنظيم تدفق أيونات الكالسيوم داخل وخارج الشبكة الساركوبلازمية لخلايا القلب، ويتسبب ذلك في انخفاض الاستقرار الكهربائي لخلايا العضلة القلبية ن الأمر الذي قد يتسبب في دخول القلب في حالة مهددة للحياة من عدم الانتظام البطيني لضربات القلب، ردا على الإفراز الطبيعي للكاتيكولامينات من النهايات العصبية الموجودة في القلب، وكذلك من الغدد الكظرية، مما يمنع القلب من ضخ الدم بشكل مناسب. وقد تنتهي هذه الحالة بشكل تلقائي أو تتحول إلى الرجفان البطيني، الذي يتسبب في الموت المفاجئ إلا إذا تم تطبيق الإنعاش القلبي الرئوي الفوري.إذا تم تطبيق الإنعاش القلبي الرئوي الفوري.
, Catecholaminergic polymorphic ventricular … Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited genetic disorder that predisposes those affected to potentially life-threatening abnormal heart rhythms or arrhythmias. The arrhythmias seen in CPVT typically occur during exercise or at times of emotional stress, and classically take the form of bidirectional ventricular tachycardia or ventricular fibrillation. Those affected may be asymptomatic, but they may also experience blackouts or even sudden cardiac death. CPVT is caused by genetic mutations affecting proteins that regulate the concentrations of calcium within cardiac muscle cells. The most commonly identified gene is RYR2, which encodes a protein included in an ion channel known as the ryanodine receptor; this channel releases calcium from a cell's internal calcium store, the sarcoplasmic reticulum, during every heartbeat. CPVT is often diagnosed from an ECG recorded during an exercise tolerance test, but it may also be diagnosed with a genetic test. The condition is treated with medication including beta-adrenoceptor blockers or flecainide, or with surgical procedures including sympathetic denervation and implantation of a defibrillator. It is thought to affect as many as one in ten thousand people and is estimated to cause 15% of all unexplained sudden cardiac deaths in young people. The condition was first defined in 1978, and the underlying genetics were described in 2001.nderlying genetics were described in 2001.
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Wielokształtny częstoskurcz komorowy zależ … Wielokształtny częstoskurcz komorowy zależny od katecholamin (ang. Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT) – rzadka, genetycznie uwarunkowana choroba z grupy kanałopatii, objawiająca się częstoskurczem komorowym związanym z aktywacją adrenergiczną przy nieobecności wad strukturalnych serca. CPVT dziedziczy się autosomalnie dominująco. Przyczyną choroby jest najczęściej mutacja w genie kodującym białko receptora rianodynowego , w 1-2% jest to mutacja genu kalsekwestryny . jest białkiem sarkoplazmy wiążącym jony wapnia.białkiem sarkoplazmy wiążącym jony wapnia.
, تسرع القلب البطيني الكاتيكولاميني متعدد ال … تسرع القلب البطيني الكاتيكولاميني متعدد الأشكال (بالإنجليزية: Catecholaminergic polymorphic ventricular tachycardia)أو تسرع القلب البطيني العائلي متعدد الأشكال (بالإنجليزية: familial polymorphic ventricular tachycardia) هو اضطراب يتميز بإيقاع غير منظم للقلب. ويُعتقد أنه يؤثر على ما يصل إلى واحد كل عشرة آلاف شخص، ويسبب 15٪ من جميع الوفيات القلبية المفاجئة غير المبررة في الشباب.ات القلبية المفاجئة غير المبررة في الشباب.
, La tachicardia ventricolare polimorfa cate … La tachicardia ventricolare polimorfa catecolaminergica, nota anche con la sigla CPVT, dall'inglese Catecholaminergic Polymorphic Ventricular Tachycardia, è un disturbo aritmico ereditario del cuore che predispone i soggetti affetti a manifestare perdite di coscienza o arresto cardiaco durante attività fisica o in situazioni di stress emotivo improvviso. Il sintomo più comune è la sincope, che si manifesta già nella prima o nella seconda decade di vita. Il 60% degli individui affetti, infatti, presenta un episodio sincopale o un arresto cardiaco entro i 15 anni d'età.un arresto cardiaco entro i 15 anni d'età.
, Catecholaminergic polymorphic ventricular … Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited genetic disorder that predisposes those affected to potentially life-threatening abnormal heart rhythms or arrhythmias. The arrhythmias seen in CPVT typically occur during exercise or at times of emotional stress, and classically take the form of bidirectional ventricular tachycardia or ventricular fibrillation. Those affected may be asymptomatic, but they may also experience blackouts or even sudden cardiac death.ce blackouts or even sudden cardiac death.
, La tachycardie ventriculaire polymorphe catécholergique est un trouble génétique du rythme cardiaque caractérisé par une instabilité électrique de la cellule musculaire cardiaque exacerbée par la stimulation du système nerveux sympathique.
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Tachycardie ventriculaire polymorphe catécholergique
, Tachicardia ventricolare polimorfa catecolaminergica
, تسرع القلب البطيني الكاتيكولاميني متعدد الأشكال
, Catecholaminergic polymorphic ventricular tachycardia
, Wielokształtny częstoskurcz komorowy zależny od katecholamin
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