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Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is triggered in those susceptible, as might be expected, by exercise or stress. This is mostly autosomal dominant (especially RYR2) but a recessive form exists.
The Decomposed Body and the Unascertained Autopsy
Published in Julian L Burton, Guy Rutty, The Hospital Autopsy, 2010
Catecholaminergic polymorphic ventricular tachycardia is a potentially fatal cardiac arrhythmia that is precipitated by stress, emotion or physical exertion. The disease has both autosomal dominant and recessive varients and typically first becomes manifest in childhood or adolescence (Milroy, 2007).
Investigation of Sudden Cardiac Death
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that can degenerate into cardiac arrest and sudden death. The typical presentation is a child between the age of 4 and 12 years presenting with sudden exercise-related syncope or cardiac arrest, often related to swimming, and tending to be worse in males. Sudden Arrhythmia Death Syndrome autopsy series find CPVT almost as commonly as long QT syndrome so, given it is much rarer than LQTS, it is clearly much more severe. Cases in infancy (sudden infant death) are rare, and milder or later presenting forms in mid-adult life are being increasingly recognized. Many syncopal episodes in fact occur during ‘wakeful rest’. The resting 12-lead ECG is normal. The diagnosis is made by exercise testing, after the exclusion of structural heart disease, by documenting premature ventricular contractions usually at heart rates over 100 beats per minute on exercise testing, which progress to polymorphic VT, and sometimes to the classic ‘bidirectional VT’ which is pathognomonic. Calcium channels are involved in the excitation-contraction coupling (ECC) process. The cardiac ryanodine receptor (RyR2) is a calcium channel that regulates calcium ion release from the sarcoplasmic reticulum. Activation of RyR2 facilitates binding of calcium ions to contractile proteins of the heart muscle, which activates systolic contraction of the cardiac myocytes. To maintain a regular heartbeat, the activity of RyR2 must be tightly-regulated. Abnormal leak of calcium ions through dysregulated RyR2 can cause an altered membrane potential which, in turn, introduces irregular contractile and electrical activity, resulting in cardiac arrhythmia and SCD. Approximately 60% of patients with CPVT have a mutation in the RyR2 gene and in a subgroup of patients with ACM. The mutations are highly penetrant. CPVT2 is autosomal recessive and very uncommon, caused by calsequestrin mutations (CASQ2).
Clinical and genetic investigation of catecholaminergic polymorphic ventricular tachycardia in a consanguineous Tunisian family
Published in Acta Cardiologica, 2020
Sonia Nouira, Sonia Chabrak, Houyem Ouragini
Catecholaminergic polymorphic ventricular tachycardia (OMIM 604772) (CPVT) is a rare familial arrhythmogenic disorder characterised by adrenergic induced bidirectional and polymorphic ventricular tachycardia in the absence of QT interval prolongation, and can degenerate into ventricular fibrillation [1,2]. Its prevalence has been estimated to be approximately 1:10000 [3,4]. CPVT occurs in children and adolescents with a normal heart structure and cause syncope and sudden cardiac death at a young age. The first syncopal events tend to occur during childhood with a mean age of clinical manifestation of eight years. Furthermore, there is a clear correlation between the age of the first syncope and the severity of the disease, with a worse prognosis in the case of early occurrence. The mortality of CPVT is extremely high getting 30%–50% by the age of 30 when untreated [5,6]. The early diagnosis of CPVT is difficult since the patient had normal heart structure and normal resting electrocardiogram. Genetic testing is then very important in diagnosis and early diagnosis and treatment can efficiently prevent sudden death in children [7].
Precision medicine in cardiac electrophysiology: where we are and where we need to go
Published in Expert Review of Precision Medicine and Drug Development, 2020
Ashish Correa, Syed Waqas Haider, Wilbert S. Aronow
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare congenital arrhythmia syndrome characterized by a predisposition to develop polymorphic VT (that can degenerate into VF) during physical activity, exercise, stress, or other states of adrenergic stimulation [59,60]. Patients present with syncope, seizures, or SCD with exercise, stress, or strenuous physical activity. Physical examination, EKG and postmortem gross pathology and microscopic examination of the heart tend to be normal [61]. However, a characteristic evolving EKG pattern is seen with increased adrenergic stimulation (or catecholamine infusion) – initially premature ventricular contractions (PVCs), followed by bigeminy and then polymorphic VT, typically with an alternating bidirectional pattern, which can degenerate into VF.
Catecholaminergic Polymorphic Ventricular Tachycardia: An Unusual Case of Fright-Induced Prehospital Cardiac Arrest in a Healthy 6-Year-Old Child
Published in Prehospital Emergency Care, 2020
Michael Wilson, Steven Schwartz, P. Richard Verbeek
It is well accepted that the main cause of prehospital cardiac arrest in pediatric patients without known underlying structural heart disease is related to a primary asphyxial event. However, genetic causes of unexplained sudden death in children including “cardiac arrhythmia genes” are now being increasingly recognized (1). We present a case where the underlying cause was a rare genetic condition, known as Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) characterized by a specific defect in intracellular calcium ion transport channels (2). A recent case series focused on the in-hospital management of pediatric cardiac arrest patients with suspected CPVT (3); however, there is a paucity of information to guide prehospital care providers in similar situations. In this case conference, we discuss what information might lead a prehospital care provider to suspect CPVT in the field, how this may alter cardiac arrest management, and outline issues related to managing patients with known CPVT when they require treatment for other common medical problems encountered in a prehospital setting.