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Pubblicazioni - Dott. Vignati Gabriele Maria
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Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids).
JAMA Cardiol2019 Aug;():. doi: 10.1001/jamacardio.2019.2861.
Norrish Gabrielle, Ding Tao, Field Ella, Ziólkowska Lidia, Olivotto Iacopo, Limongelli Giuseppe, Anastasakis Aristides, Weintraub Robert, Biagini Elena, Ragni Luca, Prendiville Terence, Duignan Sophie, McLeod Karen, Ilina Maria, Fernández Adrián, Bökenkamp Regina, Baban Anwar, Kubu? Peter, Daubeney Piers E F, Sarquella-Brugada Georgia, Cesar Sergi, Marrone Chiara, Bhole Vinay, Medrano Constancio, Uzun Orhan, Brown Elspeth, Gran Ferran, Castro Francisco J, Stuart Graham, Vignati Gabriele, Barriales-Villa Roberto, Guereta Luis G, Adwani Satish, Linter Katie, Bharucha Tara, Garcia-Pavia Pablo, Rasmussen Torsten B, Calcagnino Margherita M, Jones Caroline B, De Wilde Hans, Toru-Kubo J, Felice Tiziana, Mogensen Jens, Mathur Sujeev, Reinhardt Zdenka, O'Mahony Constantinos, Elliott Perry M, Omar Rumana Z, Kaski Juan P
Abstract
Importance:
Sudden cardiac death (SCD) is the most common mode of death in childhood hypertrophic cardiomyopathy (HCM), but there is no validated algorithm to identify those at highest risk.
Objective:
To develop and validate an SCD risk prediction model that provides individualized risk estimates.
Design, Setting, and Participants:
A prognostic model was developed from a retrospective, multicenter, longitudinal cohort study of 1024 consecutively evaluated patients aged 16 years or younger with HCM. The study was conducted from January 1, 1970, to December 31, 2017.
Exposures:
The model was developed using preselected predictor variables (unexplained syncope, maximal left-ventricular wall thickness, left atrial diameter, left-ventricular outflow tract gradient, and nonsustained ventricular tachycardia) identified from the literature and internally validated using bootstrapping.
Main Outcomes and Measures:
A composite outcome of SCD or an equivalent event (aborted cardiac arrest, appropriate implantable cardioverter defibrillator therapy, or sustained ventricular tachycardia associated with hemodynamic compromise).
Results:
Of the 1024 patients included in the study, 699 were boys (68.3%); mean (interquartile range [IQR]) age was 11 (7-14) years. Over a median follow-up of 5.3 years (IQR, 2.6-8.3; total patient years, 5984), 89 patients (8.7%) died suddenly or had an equivalent event (annual event rate, 1.49; 95% CI, 1.15-1.92). The pediatric model was developed using preselected variables to predict the risk of SCD. The model's ability to predict risk at 5 years was validated; the C statistic was 0.69 (95% CI, 0.66-0.72), and the calibration slope was 0.98 (95%, CI 0.59-1.38). For every 10 implantable cardioverter defibrillators implanted in patients with 6% or more of a 5-year SCD risk, 1 patient may potentially be saved from SCD at 5 years.
Conclusions and Relevance:
This new, validated risk stratification model for SCD in childhood HCM may provide individualized estimates of risk at 5 years using readily obtained clinical risk factors. External validation studies are required to demonstrate the accuracy of this model's predictions in diverse patient populations.
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Pregnancy in women with cardiovascular disease in the guidelines era: an Italian single-center experience.
J Cardiovasc Med (Hagerstown)2016 Oct;17(10):750-5. doi: 10.2459/JCM.0000000000000352.
Santacesaria Sara, Cataldo Stefania, Annoni Giuseppe A, Corbella Paola, Fiocchi Stefano, Vignati Gabriele M
Abstract
AIMS:
The aim of the present study is to determine pregnancy outcome with regard to the risk class and the modality way of referral to our joint Cardiac Obstetric Clinic.
METHODS:
This is a prospective observational study. Patients referred to our clinic between 2011 and 2014 were included. Reason and timing for referral were recorded. Two groups were identified: women who were known to have cardiac disease before referral (group I) and women who were not (group II). Pregnancies were managed as recommended by the ESC Guidelines. Cardiac events were defined as death, heart failure requiring treatment, documented tachyarrhythmias, thromboembolic events and need for urgent endovascular procedures or surgery.
RESULTS:
Of the 110 pregnancies, 51 (47%) were in group I and 57 (53%) in group II. Congenital (44%) and valvular (27%) diseases were the most frequent diagnosis. Thirty-two percent of patients were in WHO risk classes III-IV. Thirty percent were referred for symptoms, 70% for risk assessment. Women in group II were evaluated later in pregnancy than those in group I (25.6?±?9 vs. 21.4?±?9; P < 0.01). Cardiovascular events occurred in 15 (13.6%) pregnancies and were more common in WHO risk classes III-IV (11, P < 0.001), in group II (12, P= 0.02) and in patients referred for symptoms (11, P < 0.001). Stillbirths occurred only in classes III-IV (three pregnant, 2.7%).
CONCLUSION:
There was no maternal or neonatal mortality and an overall acceptable incidence of cardiovascular events but a relevant percentage of pregnant were first referred late and/or for the onset of symptoms. Events were more frequent in these patients. Further efforts are needed to optimize referral to specialized centers.
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Mitral valve endocarditis due to Abiotrophia defectiva in a 14th week pregnant woman.
Interact Cardiovasc Thorac Surg2016 Jan;22(1):112-4. doi: 10.1093/icvts/ivv289.
Botta Luca, Merati Roberto, Vignati Gabriele, Orcese Carlo Andrea, De Chiara Benedetta, Cannata Aldo, Bruschi Giuseppe, Fratto Pasquale
Abstract
Infective endocarditis during pregnancy carries a high mortality risk, both for the mother and for the foetus and requires a multidisciplinary team in the management of complicated cases. We report our experience with a 39-year old patient, affected by an acute active mitral endocarditis due to Abiotrophia defectiva at the 14th gestational week, strongly motivated to continue the pregnancy. Our patient successfully underwent mitral valve replacement with a normothermic high-flow cardiopulmonary bypass under continuous intraoperative foetal monitoring. Caesarean section occurred at the 38th gestational week. The delivery was uneventful and both the mother and child are doing well at the 16-month follow-up.
© The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.
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[A matter of perspective: multimodality imaging of a giant cardiac mass].
G Ital Cardiol (Rome)2015 Mar;16(3):186-7. doi: 10.1714/1820.19830.
Baroni Matteo, Nava Stefano, Vignati Gabriele, Marianeschi Stefano Maria, Giannattasio Cristina, Pedrotti Patrizia
Abstract
A newborn was suspected of having situs inversus with levocardia based on chest X-ray. Echocardiography ruled out this hypothesis but revealed a giant cardiac mass that was confirmed by magnetic resonance imaging. Coronary angiography showed that the right coronary artery ran on the surface of the mass, and only partial debulking surgery was performed to relieve right heart compression. Histological examination classified the mass as cardiac fibroma. Complex diagnostic work-up allowed correct anatomic definition of the mass as well as its relationship with adjacent structures, and helped guide surgical planning.
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[Treatment of arrhythmias in children without heart disease].
G Ital Cardiol (Rome)2014 Dec;15(12):678-84. doi: 10.1714/1718.18770.
Vignati Gabriele
Abstract
In children, arrhythmias have an etiology, evolution and treatment strategy that often differs from that of adults. Ectopic beats are very common, but rarely need to be treated. Macroreentrant supraventricular tachycardia is the arrhythmia that usually requires a treatment intervention. Adenosine for tachycardia interruption and 1C anti-arrhythmic drugs for prevention of recurrences are the first-line treatment. Automatic supraventricular tachycardias are infrequent but are typical of the pediatric age; treatment should be targeted at rate control in addition to tachycardia interruption. Beta-blockers and calcium antagonists are the most useful drugs for tachycardia control. Ventricular tachycardia is a very uncommon arrhythmia in children usually related to channelopathies; in this setting beta-blockers are often the first-choice treatment, but in many selected patients implantation of a cardioverter-defibrillator is required. Other types of ventricular tachycardia include fascicular and infundibular tachycardias that are usually well controlled by medical and/or ablation therapy. Ablation procedures are very effective in curing many tachyarrhythmias also in the pediatric age; the main indication for ablation is the need for continuing medical therapy after the age of 10-12 years. Hypokinetic arrhythmias are very rare and usually require pacemaker implantation.
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An unusual case of suspected microvascular angina in a newborn.
Case Rep Pediatr2012 ;2012():879161. doi: 10.1155/2012/879161.
Cataldo Stefania, Annoni Giuseppe Alberto, Fiocchi Stefano, Mauri Luigi Daniele, Corato Alessandra, Vignati Gabriele
Abstract
Myocardial ischemia in pediatric population is uncommon and usually due to congenital heart disease or extracardiac conditions leading to poor coronary perfusion. A 6-day-old newborn presented with respiratory distress and signs of heart failure. ECG, echocardiography, and laboratory results were consistent with myocardial ischemia. Coronary angiography was performed to exclude anomalous origin of coronary arteries, showing normal coronary artery origin and course. Thrombophilia and extra-cardiac causes were ruled out. Clinical conditions improved with mechanical ventilation and diuretics, enzyme levels lowered, repolarisation and systolic function abnormalities regressed, but ischemic electrocardiographic and echocardiographic signs still presented during intense crying. Becaues of suspicion of microvascular angina, therapy with ASA and beta-blocker was started. At 5 month followup, the baby was in good clinical condition and no more episodes were recorded. We believe it is an interesting case, as no similar cases have been recorded till now.
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A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
Neonatology2012 ;102(4):254-8. doi: 10.1159/000339847.
Marziliano Nicola, Merlini Piera Angelica, Vignati Gabriele, Orsini Francesco, Motta Valentina, Bandiera Laura, Intrieri Mariano, Veronese Silvio
Abstract
Hypertrophic cardiomyopathy (HCM) is a familial, genetically determined, primary cardiomyopathy caused by mutations in genes coding for proteins of the sarcomere, or, less frequently, genes involved in storage diseases. In pediatric settings, pure HCM has an estimated incidence of 4.7 per million children. The disease is often sub-clinical and goes unrecognized mainly because most patients with HCM have only mild symptoms, if any. However, sudden cardiac death, the most dramatic clinical occurrence and the primary concern for patients and physicians alike, may be the first manifestation of the disease. We describe a case of compound heterozygosity in the MYBPC3 gene (p.Glu258Lys and IVS25-1G>A) associated with biventricular hypertrophy, atrial enlargement and subsequent neonatal death 33 days postpartum. Other studies have reported compound and/or double heterozygosis in the same or different sarcomeric genes during childhood and adulthood, and neonatal presentations have also been described. Our observations show that the combination of a missense (p.Glu258Lys) and a splice-site mutation (IVS25-1G>A) profoundly affects the clinical course. In families in which parental mutations are known, preimplantation (where ethically and legally feasible) or prenatal genetic screening should be adopted because: (1) neonatal HCM in genetic heterozygosity is potentially lethal and (2) heart disease is the most common developmental malformation and the leading cause of neonatal mortality and morbidity.
Copyright © 2012 S. Karger AG, Basel.
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Partial anomalous connection of both superior pulmonary veins.
Ann Thorac Surg2012 Aug;94(2):649-51. doi: 10.1016/j.athoracsur.2011.10.082.
Marianeschi Stefano M, Cannata Aldo, Uricchio Nicola, Pedretti Stefano, Vignati Gabriele
Abstract
Several patterns of anomalous pulmonary venous drainage have been described in the literature, and bilateral partial pulmonary anomalous vein connection (PAPVC) has been described as a rare congenital cardiac anomaly. We report an unusual type of bilateral PAPVC, involving both the superior right and left pulmonary veins draining into the left brachiocephalic vein in a young adult who was symptomatic with dyspnea and a dry cough.
Copyright © 2012 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.
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Acute myocardial infarction and cardiac arrest in atypical Takayasu aortitis in a young girl: unusual diagnostic role of cardiac magnetic resonance imaging in emergency setting.
Circulation2010 Apr;121(14):e370-5. doi: 10.1161/CIR.0b013e3181dab9ee.
Roghi Alberto, Pedrotti Patrizia, Milazzo Angela, Vignati Gabriele, Martinelli Luigi, Paino Roberto, Bonacina Edgardo
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Percutaneous device closure of iatrogenic left ventricular wall pseudoaneurysm.
Ann Thorac Surg2009 Oct;88(4):e31-3. doi: 10.1016/j.athoracsur.2009.07.032.
Vignati Gabriele, Bruschi Giuseppe, Mauri Luigi, Annoni Giuseppe, Frigerio Maria, Martinelli Luigi, Klugmann Silvio
Abstract
A 67-year-old man with ischemic cardiomyopathy was transferred to our hospital in cardiogenic. During a video-assisted mini-thoracotomy for left ventricular epicardial lead implantation, a left ventricular free-wall rupture occurred and an emergency surgical repair was performed. Postoperatively patients experience left ventricular wall pseudoaneurysm. After stabilization of clinical conditions with aggressive medical treatment, we decided to attempt a minimally invasive procedure (ie, a transcatheter pseudoaneurysm closure). To date, few cases of device closure of left ventricle pseudoaneurysm are reported in the literature, usually secondary to myocardial infarction, and we believe this is the first case of left ventricle pseudoaneurysm after iatrogenic left ventricle laceration and surgical closure.
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Congenital heart block not associated with anti-Ro/La antibodies: comparison with anti-Ro/La-positive cases.
J Rheumatol2009 Aug;36(8):1744-8. doi: 10.3899/jrheum.080737.
Brucato Antonio, Grava Chiara, Bortolati Maria, Ikeda Keigo, Milanesi Ornella, Cimaz Rolando, Ramoni Veronique, Vignati Gabriele, Martinelli Stefano, Sadou Youcef, Borghi Adele, Tincani Angela, Chan Edward K L, Ruffatti Amelia
Abstract
OBJECTIVE:
To study anti-Ro/La-negative congenital heart block (CHB).
METHODS:
Forty-five fetuses with CHB were evaluated by analysis of anti-Ro/La antibodies using sensitive laboratory methods.
RESULTS:
There were 9 cases of anti-Ro/La-negative CHB; 3 died (33.3%). Only 3 (33.3%) were complete in utero and 5 (55.5%) were unstable. No specific etiology was diagnosed. Six infants (66.6%) were given pacemakers. There were 36 cases of anti-Ro/La-positive CHB. All except 2 infants (94.4%) had complete atrioventricular block in utero. Ten died (27.8%), one (2.7%) developed severe dilated cardiomyopathy, and 26 (72.2%) were given pacemakers.
CONCLUSION:
Nine of the 45 consecutive CHB cases (20%) were anti-Ro/La-negative with no known cause. They were less stable and complete than the anti-Ro/La positive cases.
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The impact of treatment of the fetus by maternal therapy on the fetal and postnatal outcomes for fetuses diagnosed with isolated complete atrioventricular block.
Cardiol Young2009 Jun;19(3):282-90. doi: 10.1017/S1047951109004053.
Fesslova Vlasta, Vignati Gabriele, Brucato Antonio, De Sanctis Marina, Butera Gianfranco, Pisoni Maria Pia, Chiappa Enrico, Acaia Barbara, Meroni Pier Luigi
Abstract
OBJECTIVES:
to analyse retrospectively the data of fetuses diagnosed with isolated complete atrioventricular block and efficacy of treatment of the fetus by maternal therapy.
MATERIALS:
Between 1992 and 2004, we diagnosed complete atrioventricular block in 26 singleton and 2 twins fetuses of 27 pregnant women known to have anti Ro/La antibodies, 11 with autoimmune disease, one patient analysed in 2 pregnancies. At presentation, 20 of the fetuses were compensated and non-hydropic, while 8 had hydrops. Twenty patients were treated with dexamethasone, 2 with associated salbutamol and one mother with isoproterenol.
RESULTS:
Age at presentation was not different between the hydropic and non-hydropic fetuses. The fetuses with hydrops, however, had a lower mean heart rate at presentation, 48.5 +/- 9.25 with a range from 32 to 60, compared to 59.95 +/- 7.9 beats per minute, with a range from 50 to 80, in the non-hydropic fetuses (p less than 0.002). Equally, after birth the mean heart rate in hydropic fetuses was 42.6 +/- 5.1, with a range from 38 to 50, as opposed to 56.05 +/- 11.8 beats per minute, with a range from 29 to 110, in the non-hydropic fetuses (p less than 0.015), The hydropic fetuses were delivered at 31.7 +/- 3.8 weeks' gestation, with a range from 29 to 38 weeks (p less than 0.003) compared to 35.5 weeks' gestation +/-2.04, with a range from 31 to 38, in the non-hydropic fetuses. Mortality was 37.5% in the hydropic fetuses, versus 5% of those without hydrops (p less than 0.02). Pacemakers were implanted in 22 of 26 infants born alive, at a median of 45 days, with a range from 1 day to 5 years, in those without hydrops during fetal life, and 3 days, with a range from 1 day to 8 months in those afflicted by hydrops, of whom 2 died despite the implant of the pacemaker. The presence and degree of hydrops had a significantly negative predictive value. No significant differences were observed between the treated and non treated cases, albeit that administration of steroids ameliorated rapidly the hydrops in 3 of 5 cases.
CONCLUSIONS:
The outcome in our cases was mainly dependent on the presence and degree of fetal cardiac failure. Treatment of the fetus by maternal administration of steroids did not result in any regression of the conduction disorder, but had a favourable effect on fetal hydrops.
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Pulmonary valve implantation with the new Shelhigh Injectable Stented Pulmonic Valve.
Ann Thorac Surg2008 Nov;86(5):1466-71; discussion 1472. doi: 10.1016/j.athoracsur.2008.06.085.
Marianeschi Stefano M, Santoro Francesco, Ribera Elena, Catena Emanuele, Vignati Gabriele, Ghiselli Simone, Pedretti Stefano, Suleyman Ozkan, Ustunsoy Hasim, Berdat Pascal A
Abstract
BACKGROUND:
Pulmonary regurgitation (PR) occurs frequently after tetralogy of Fallot (TOF) repair, impairing long-term prognosis and necessitating reinterventions. Myocardial damage, invasiveness, and the risks of pulmonary valve replacement (PVR) therefore need to be minimized. The new Shelhigh Injectable Stented Pulmonic Valve (Shelhigh Inc, Union, NJ) allows implantation without cardiopulmonary bypass (CPB) under direct control.
METHODS:
Twelve symptomatic patients (age, 21.3 +/- 12.5; range, 5.8 to 53.5 years) with severe PR and progressive right ventricular (RV) dilatation with dysfunction received the Shelhigh valve in sizes 21 (n = 1), 25 (n = 4), 27 (n = 3), 29 (n = 2), and 31 mm (n = 2).
RESULTS:
Valve insertion was successful and hemodynamic performance excellent in all: peak systolic gradient, 14.5 +/- 4.6 (range, 10 to 20) mm Hg; mean gradient, 6.3 +/- 1.6 (range, 4 to 8) mm Hg. Four patients underwent concomitant procedures on CPB: one reduction plasty of a dilated main pulmonary artery, two tricuspid valve repairs, and one VSD closure. Early recovery was uneventful. There were no reoperations. During a mean follow-up of 5.4 +/- 4.3 months (range, 0.3 to 10.6 months) echocardiography showed good results, with low gradients and recovered RV function in all. All presented in New York Heart Association functional class 1 at the latest follow-up.
CONCLUSIONS:
The Shelhigh valve allows easy PVR without CPB up to large valve sizes, with less invasiveness compared with a conventional approach. Further follow-up is needed to assess its durability and long-term performance.
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Pediatric arrhythmias: which are the news?
J Cardiovasc Med (Hagerstown)2007 Jan;8(1):62-6.
Vignati Gabriele
Abstract
Knowledge about cardiac arrhythmias has significantly improved in the last 20 years, and the improvements in diagnosis and in therapy have also had important effects on the management of pediatric arrhythmias. In this paper, the most important developments in the field of management of pediatric arrhythmias (fetal arrhythmias, genetics, pharmacological strategies, radiofrequency ablation, new technologies) as well as the remaining problems (risk stratification of some arrhythmic forms as for example Wolff-Parkinson-White and ventricular arrhythmias) will be discussed.
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Eisenmenger syndrome: a case of survival after ventricular tachycardia due to inferior myocardial infarction in a 48-year-old patient with congenital large ventricular septal defect.
Can J Cardiol2004 Jun;20(8):822-4.
Passarani Simonetta, Vignati Gabriele, Einaudi Arturo
Abstract
Eisenmenger syndrome is the most common consequence of congenital cyanotic heart disease seen in adults; survival to the fifth decade of life is rare. Death is very difficult to predict: it is related to sudden cardiac ventricular arrhythmia, massive hemoptysis and right heart failure. In this paper, a patient with ventricular septal defect and Eisenmenger reaction is described. The patient was relatively well until 48 years of age, when she underwent surgery because of a cerebral abscess without cerebral complications but with some deterioration of her cardiac function. After discharge, the patient was readmitted to the hospital because the electrocardiogram showed persistent ST inferior elevation. Echocardiography demonstrated poor contractility and inferior akinesia. Sudden ventricular tachycardia occurred and the patient became unconscious. She was successfully resuscitated and, following a period of ventilation, the hemodynamics stabilized and she was discharged 17 days later. She remained well two years later.
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Surgical treatment of arrhythmias related to congenital heart diseases.
Ann Thorac Surg2003 Apr;75(4):1194-9.
Vignati Gabriele, Crupi Giancarlo, Vanini Vittorio, Iorio Fiore S, Borghi Adele, Giusti Sandra
Abstract
BACKGROUND:
Supraventricular arrhythmias complicate operated and unoperated congenital heart disease, especially when atrial dilatation coexists.
METHODS:
We evaluated the results of intraoperative ablation in a group of 23 patients with chronic supraventricular tachyarrhythmias (mostly intraatrial reentry) that were unresponsive to conventional medical therapy. All procedures were performed consecutively between September 1999 and November 2001. Ablation was done during redo operations (Fontan conversion to total cavopulmonary connection in 16 patients) in 18 patients and during primary surgical correction in 5 patients. The mean age at operation was 25 +/- 12 years (2 to 50 years). Cryoablation was done in 10 patients and radiofrequency ablation in 13 patients. Nineteen patients had ablation in one atrium and 4 had ablation in both atria. A generous atrial reduction was always performed at the end of the operation.
RESULTS:
The operative mortality rate was 13% (3 patients) from causes unrelated to ablation. In 20 survivors, the ablation was effective immediately. Eight patients required a permanent pacemaker. During a mean follow-up of 22 +/- 4 months, atrial arrhythmias recurred in 25% (5 patients) and were controlled with medical therapy, whereas 1 patient required pacemaker implantation.
CONCLUSIONS:
Intraoperative treatment of unresponsive atrial tachyarrhythmias associated with operated or unoperated congenital heart disease is feasible and the midterm results are encouraging.
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Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
Circulation2002 Jul;106(1):69-74.
Priori Silvia G, Napolitano Carlo, Memmi Mirella, Colombi Barbara, Drago Fabrizio, Gasparini Maurizio, DeSimone Luciano, Coltorti Fernando, Bloise Raffaella, Keegan Roberto, Cruz Filho Fernando E S, Vignati Gabriele, Benatar Abraham, DeLogu Angelica
Abstract
BACKGROUND:
Mutations in the cardiac ryanodine receptor gene (RyR2) underlie catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmogenic disease occurring in the structurally intact heart. The proportion of patients with CPVT carrying RyR2 mutations is unknown, and the clinical features of RyR2-CPVT as compared with nongenotyped CPVT are undefined.
METHODS AND RESULTS:
Patients with documented polymorphic ventricular arrhythmias occurring during physical or emotional stress with a normal heart entered the study. The clinical phenotype of the 30 probands and of 118 family members was evaluated, and mutation screening on the RyR2 gene was performed. Arrhythmias documented in probands were: 14 of 30 bidirectional ventricular tachycardia, 12 of 30 polymorphic ventricular tachycardia, and 4 of 30 catecholaminergic idiopathic ventricular fibrillation; RyR2 mutations were identified in 14 of 30 probands (36% bidirectional ventricular tachycardia, 58% polymorphic ventricular tachycardia, 50% catecholaminergic idiopathic ventricular fibrillation) and in 9 family members (4 silent gene carriers). Genotype-phenotype analysis showed that patients with RyR2 CPVT have events at a younger age than do patients with nongenotyped CPVT and that male sex is a risk factor for syncope in RyR2-CPVT (relative risk=4.2).
CONCLUSIONS:
CPVT is a clinically and genetically heterogeneous disease manifesting beyond pediatric age with a spectrum of polymorphic arrhythmias. beta-Blockers reduce arrhythmias, but in 30% of patients an implantable defibrillator may be required. Genetic analysis identifies two groups of patients: Patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events. These data provide a rationale for prompt evaluation and treatment of young men with RyR2 mutations.
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