Review
Biochemistry & Molecular Biology
Dania Kallas, Avani Lamba, Thomas M. Roston, Alia Arslanova, Sonia Franciosi, Glen F. Tibbits, Shubhayan Sanatani
Summary: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and potentially lethal inherited arrhythmia disease characterized by exercise or emotion-induced ventricular tachyarrhythmias. Most CPVT patients have pathogenic variants in the genes encoding cardiac ryanodine receptor or calsequestrin 2, leading to mishandling of calcium in cardiomyocytes and resulting in arrhythmias. Despite decades of research, risk stratification is imprecise and long-term prognosis remains unknown for pediatric CPVT patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Silvia G. Priori, Andrea Mazzanti, Demetrio J. Santiago, Deni Kukavica, Alessandro Trancuccio, Jason C. Kovacic
Summary: This article focuses on the precision medicine opportunities for catecholaminergic polymorphic ventricular tachycardia (CPVT), highlighting that CPVT can manifest as typical or atypical forms with different genetic changes and features, which is crucial for implementing personalized therapeutic approaches.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Physiology
Angela F. Dulhunty
Summary: Mutations in the cardiac ryanodine receptor Ca2+ release channel (RyR2) can lead to catecholaminergic polymorphic ventricular tachycardia (CPVT), characterized by increased cytoplasmic Ca2+ concentrations during diastole due to Ca2+ leak from the sarcoplasmic reticulum (SR). The influx of Na+ through the sodium calcium exchanger (NCX) decreases cytoplasmic Ca2+ but triggers delayed after depolarizations (DADs) and arrhythmias. Current therapies have side effects and can affect other target processes.
FRONTIERS IN PHYSIOLOGY
(2022)
Review
Pharmacology & Pharmacy
Junxia Song, Yanhong Luo, Ying Jiang, Jianfeng He
Summary: Catecholaminergic polymorphic ventricular tachycardia is a primary arrhythmogenic syndrome commonly seen in adolescents, with a high mortality rate but often overlooked or misdiagnosed. The disease mechanism is related to sympathetic excitation, with patients typically lacking organic heart disease and showing subtle clinical manifestations.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Puck J. Peltenburg, Sanjeev N. J. Pultoo, Kathryn E. Tobert, J. Martijn Bos, Krystien V. V. Lieve, Michael Tanck, Sally-Ann B. Clur, Nico A. Blom, Michael J. Ackerman, Arthur A. M. Wilde, Christian van der Werf
Summary: This study aimed to test the repeatability of ventricular arrhythmia characteristics on the exercise-stress test (EST) in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT). The results showed that the repeatability of the maximum ventricular arrhythmia score (VAS) was moderate, and the repeatability of the heart rate at the first premature ventricular contraction (PVC) was substantial. The use of medication was associated with a higher odds for a Delta VAS > 1.
Article
Chemistry, Multidisciplinary
Jiang-fan Wan, Gang Wang, Fu-ying Qin, Dan-ling Huang, Yan Wang, Ai-ling Su, Hai-ping Zhang, Yang Liu, Shao-yin Zeng, Chao-liang Wei, Yong-xian Cheng, Jie Liu
Summary: In this study, researchers discovered that a meroterpenoid compound called Z16b isolated from Ganoderma cochlear can effectively inhibit excessive Ca2+ spark frequency and abnormal Ca2+ release events in CPVT models. They found that Z16b interacts with a protein called RyR2, enhancing its stability and preventing CPVT. These findings suggest that Z16b could be a potential novel treatment for CPVT.
ACTA PHARMACOLOGICA SINICA
(2022)
Article
Cardiac & Cardiovascular Systems
Keiko Shimamoto, Seiko Ohno, Koichi Kato, Koichiro Takayama, Keiko Sonoda, Megumi Fukuyama, Takeru Makiyama, Satomi Okamura, Koko Asakura, Noriaki Imanishi, Yoshiaki Kato, Heima Sakaguchi, Tsukasa Kamakura, Mitsuru Wada, Kenichiro Yamagata, Kohei Ishibashi, Yuko Inoue, Koji Miyamoto, Satoshi Nagase, Kengo Kusano, Minoru Horie, Takeshi Aiba
Summary: This study investigated the inheritance and clinical significance of CPVT1-related RYR2 variants, and the differences between familial and de novo cases. The study found that CPVT1 probands with de novo RYR2 variants had an earlier onset of symptoms compared to those with assured familial inheritance. Cascade screening is recommended for early diagnosis and prophylactic therapeutic intervention.
Review
Cardiac & Cardiovascular Systems
Thomas M. Roston, Dania Kallas, Brianna Davies, Sonia Franciosi, Astrid M. De Souza, Zachary W. Laksman, Shubhayan Sanatani, Andrew D. Krahn
Summary: The novel burst exercise test showed higher sensitivity in triggering CPVT compared to standard EST, potentially improving diagnostic accuracy and treatment decision-making.
JACC-CLINICAL ELECTROPHYSIOLOGY
(2021)
Review
Physiology
Yukun Li, Xiaodong Peng, Rong Lin, Xuesi Wang, Xinmeng Liu, Rong Bai, Changsheng Ma, Ribo Tang, Yanfei Ruan, Nian Liu
Summary: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited arrhythmia disorder. Beta-blockers are commonly used, but some patients do not respond well to this treatment. Studies suggest that flecainide effectively prevents life-threatening arrhythmias in CPVT, but the mechanism of action is debated.
FRONTIERS IN PHYSIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Stephane Zaffran, Lilia Kraoua, Hager Jaouadi
Summary: This review discusses the genetic etiology of cardiac diseases related to calcium mishandling, focusing on catecholaminergic polymorphic ventricular tachycardia (CPVT) as a cardiac channelopathy and hypertrophic cardiomyopathy (HCM) as a primary cardiomyopathy. It emphasizes that calcium-handling perturbations are the common pathophysiological mechanism despite the genetic heterogeneity of cardiac defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Cardiac & Cardiovascular Systems
Paloma Remior Perez, Robyn J. Hylind, Thomas M. Roston, Vassilios J. Bezzerides, Dominic J. Abrams
Summary: In the past thirty years, the genetic basis of various inherited arrhythmia syndromes has been elucidated, providing insights into cardiomyocyte biology and regulatory pathways associated with cellular excitation, contraction, and repolarisation. As the understanding of genetic sequence manipulation and gene-based therapies has grown, exploring the potential of gene therapy for inherited arrhythmia has become possible. This review focuses on catechol-aminergic polymorphic ventricular tachycardia (CPVT) and discusses its clinical manifestations, genetic basis, molecular biology, and current research on gene therapy.
HEART LUNG AND CIRCULATION
(2023)
Article
Cardiac & Cardiovascular Systems
Dania Kallas, Thomas M. Roston, Sonia Franciosi, Laura Brett, Krystien V. V. Lieve, Sit-Yee Kwok, Prince J. Kannankeril, Andrew D. Krahn, Martin J. LaPage, Susan Etheridge, Allison Hill, Christopher Johnsrude, James Perry, Linda Knight, Peter Fischbach, Seshadri Balaji, Svjetlana Tisma-Dupanovic, Ian Law, Joseph Atallah, David Backhoff, Anna Kamp, Peter Kubus, Adam Kean, Peter F. Aziz, Joshua Kovach, Yung Lau, Jordana Kron, Sally-Ann Clur, Georgia Sarquella-Brugada, Arthur A. M. Wilde, Shubhayan Sanatani
Summary: In this study of pediatric CPVT patients, it was found that proband status is an independent predictor of time to first cardiac event. Age at symptom onset and sex were not identified as predictive factors. Treatment and strategies can influence event risk for both probands and relatives.
Article
Cardiac & Cardiovascular Systems
Erick Jimenez, Daniel Cortez, Mark McGill, Matthew Ambrose
Summary: CPVT is a potentially lethal cardiac channelopathy characterized by episodes of ventricular tachycardia during exercise or in stressful situations. The peripartum period is a stressful environment that requires special care for individuals with this condition.
ANNALS OF NONINVASIVE ELECTROCARDIOLOGY
(2021)
Article
Cell Biology
Tarah A. Word, Ann P. Quick, Christina Y. Miyake, Mayra K. Shak, Xiaolu Pan, Jean J. Kim, Hugh D. Allen, Martha Sibrian-Vazquez, Robert M. Strongin, Andrew P. Landstrom, Xander H. T. Wehrens
Summary: CPVT is a genetic cardiac arrhythmia syndrome often leading to sudden death, typically caused by RYR2 gene mutations. The tetracaine derivative EL20 has been shown to normalize SR Ca2+ handling and suppress arrhythmic activity, offering promise as a therapeutic candidate for CPVT patients.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2021)
Review
Genetics & Heredity
Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua, Chuan Wang
Summary: This study identified a total of 95 Chinese pediatric patients with CPVT, highlighting delayed diagnosis, non-standard usage of beta-blockers, and availability issues of certain medications as contributing factors to a poorer prognosis compared to other cohorts. Variants in RYR2 and CASQ2 genes were common among patients, with different mutation types showing varied clinical manifestations and outcomes.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Pediatrics
Piia Suursalmi, Anneli Eerola, Tuija Poutanen, Paivi Korhonen, Tarja Kopeli, Outi Tammela
Article
Pediatrics
Kaisa Ylanen, Anneli Eerola, Kim Vettenranta, Tuija Poutanen
EUROPEAN JOURNAL OF PEDIATRICS
(2016)
Article
Cardiac & Cardiovascular Systems
Suvi Sirkku Tuohinen, Tanja Skytta, Tuija Poutanen, Heini Huhtala, Vesa Virtanen, Pirkko-Liisa Kellokumpu-Lehtinen, Pekka Raatikainen
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2017)
Article
Pediatrics
Kaisa Ylanen, Tuija Poutanen, Tanja Savukoski, Anneli Eerola, Kim Vettenranta
Article
Cardiac & Cardiovascular Systems
Kaisa Ylanen, Anneli Eerola, Kim Vettenranta, Tuija Poutanen
AMERICAN JOURNAL OF CARDIOLOGY
(2014)
Article
Cardiac & Cardiovascular Systems
Kaisa Ylanen, Tuija Poutanen, Paivi Savikurki-Heikkila, Irina Rinta-Kiikka, Anneli Eerola, Kim Vettenranta
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2013)
Article
Cardiac & Cardiovascular Systems
Anneli Eerola, Tuija Poutanen, Tanja Savukoski, Kim Pettersson, Heikki Sairanen, Eero Jokinen, Jaana Pihkala
INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY
(2014)
Article
Oncology
Suvi Sirkku Tuohinen, Tanja Skytta, Heini Huhtala, Tuija Poutanen, Vesa Virtanen, Pirkko-Liisa Kellokumpu-Lehtinen, Pekka Raatikainen
Summary: This study revealed that radiation therapy had an impact on left ventricular diastolic function, particularly changes in SRe in the apical and anteroseptat segments over a 3-year follow-up period. Even in patients with preserved global longitudinal strain, diastolic function abnormalities were evident.
JACC: CARDIOONCOLOGY
(2021)
Article
Pediatrics
Asta Uusitalo, Antti Tikkakoski, Miika Reinikainen, Pieta Lehtinen, Kaisa Ylanen, Paivi Korhonen, Tuija Poutanen
Summary: This retrospective study assessed the indications and findings of 24-hour Holter monitoring in newborns, pointing out that bradycardias and extrasystoles were the most common indications. Only a small number of infants had significant arrhythmia, which was associated with heart disease or abnormal electrocardiograms.
Article
Cardiac & Cardiovascular Systems
Jussi Niemela, Kaisa Ylanen, Anu Suominen, Kuberan Pushparajah, Sujeev Mathur, Taisto Sarkola, Kirsi Jahnukainen, Anneli Eerola, Tuija Poutanen, Kim Vettenranta, Tiina Ojala
Summary: LV longitudinal strain is a more sensitive method than LV EF for the detection of cardiac dysfunction among CCSs. Therefore, LV longitudinal strain should be added to the screening panel, especially for those with modifiable cardiovascular risk factors.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Pediatrics
I. Papunen, T. Poutanen, K. Ylanen
Summary: The aim of this study was to assess undiagnosed congenital heart defects (CHD) in newborns with murmur or suspicion of CHD after hospital discharge, identify predictive signs for CHDs, and estimate examination costs. Retrospective medical records of 490 referred patients were reviewed. Of the patients, 13% had abnormal echocardiography, but no ductal-dependent or cyanotic CHDs were found. Clinical signs indicating CHDs were high-grade murmur and harsh murmur. Abnormal electrocardiography did not indicate CHD. The total cost of the examinations was 259,700 (currency unknown), with 59% of the studies being assessed as benign. Conclusion: Only a few CHDs were found after newborn hospital discharge among patients who received screening and were examined for CHD suspicion, leading to unnecessary healthcare costs due to a high number of benign murmurs.
Article
Pediatrics
Asta Uusitalo, Antti Tikkakoski, Pieta Lehtinen, Kaisa Ylanen, Paivi H. Korhonen, Tuija Poutanen
Summary: This study aims to evaluate heart rate, extrasystoles, and other Holter findings among healthy newborns, and collect data for new normal limits for Holter parameters in this population. The results showed a significant increase in both the minimum and mean heart rates of healthy term newborns between the 3rd and 9th days of life. The presence of a small number of extrasystoles and isolated short tachycardias was found to be common in healthy newborns. The daily reference values for heart rate should be considered in the interpretation of Holter monitoring results in newborns.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Minna Mecklin, Anniina Linnanmaeki, Anita Hiippala, Topias Leino, Anita Arola, Markku Leskinen, Hanna Ruotsalainen, Juha-Matti Happonen, Tuija Poutanen
Summary: This study aimed to determine whether a shorter duration of antiarrhythmic medication (AM) is sufficient to prevent atrioventricular reentrant tachycardia (AVRT) recurrence and evaluate risk factors for recurrence of supraventricular tachycardia (SVT) after discontinued AM in infants. The study found that shortening the duration of AM from 12 to 6 months in infants does not lead to more frequent SVT recurrence. Risk factors for recurrence of SVT include the need for combination AM, Wolff-Parkinson-White (WPW) syndrome, and age over 1 month.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Piia Suursalmi, Tiina Ojala, Tuija Poutanen, Anneli Eerola, Paivi Korhonen, Tarja Kopeli, Outi Tammela
Meeting Abstract
Cardiac & Cardiovascular Systems
S. Tuohinen, S. Tuohinen, T. Skytta, T. Poutanen, V. Virtanen, P. Kellokumpu-Lehtinen, P. Raatikainen
EUROPEAN HEART JOURNAL
(2016)