Article
Cardiac & Cardiovascular Systems
Xin Chen, Lijun Fu, Jiqiang He, Rong Bai, Shaoying Zeng, Hongtao Liao, Hai Deng, Yumei Xue, Shulin Wu, Yang Liu
Summary: Danon disease is characterized by heart failure and abnormal electrocardiographic patterns, leading to early death in both genders. The ECG changes become more severe as patients age, and the pre-excited ECG pattern is associated with fasciculoventricular pathways and Wolff-Parkinson-White syndrome.
CIRCULATION JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Douglas Darden, Jonathan C. Hsu, Wendy S. Tzou, Johannes C. von Alvensleben, Mary Brooks, Kurt S. Hoffmayer, Michela Brambatti, William H. Sauer, Gregory K. Feld, Eric Adler
Summary: In patients with Danon disease, a high prevalence of ventricular preexcitation, including fasciculoventricular pathway (FVP) and extranodal pathways, was found on electrophysiological study (EPS). Some patients may have potentially malignant accessory pathways.
Editorial Material
Cardiac & Cardiovascular Systems
Inbar Raber, Nicholas O. Palmeri, Usman A. Tahir, Peter J. Zimetbaum
Summary: Additional digital content is accessible in the text.
Article
Genetics & Heredity
Luyan Zhang, Fan Yang, Mei Chen, Ming Zhou, Tianwei Qian, Mohammed Omer Mujtaba, Abdul Haseeb Mohammed, Jie Yin, Xueying Cheng, Jinlong Chen, Yuming Qin, Shiwei Yang
Summary: This report discusses two unrelated boys diagnosed with Danon disease at a very young age, one of whom died soon after diagnosis while the other showed no significant cardiovascular symptoms during the follow-up period. The genetic screening found compound variants of LAMP2 and MYH7 in both cases, highlighting the clinical heterogeneity in Danon disease.
FRONTIERS IN GENETICS
(2021)
Article
Cardiac & Cardiovascular Systems
Sofia Capocci, Francesca Rubino, Martina Setti, Caterina Butturini, Luca Tomasi, Bruna Bolzan, Anna Piccoli, Flavio Luciano Ribichini, Giacomo Mugnai
Summary: The present case reports a dilated cardiomyopathy with both antidromic and orthodromic atrio-ventricular reentrant tachycardias supported by multiple right accessory pathways. Both right accessory pathways were successfully eliminated by catheter ablation and the patient progressively recovered during the follow up. The possible etiologies involved are primitive dilated cardiomyopathy (or post-inflammatory), septal dyssynchrony due to ventricular pre-excitation, and tachycardiomyopathy.
JOURNAL OF ELECTROCARDIOLOGY
(2023)
Article
Pediatrics
Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang, Xue-Mei Wu
Summary: Multiple causative mutations in mitochondrial and nuclear DNA have been identified in Leigh syndrome patients, including a novel mutation m.13513 G>A reported for the first time in a Chinese patient. A case of a Chinese boy diagnosed with Leigh syndrome and WPW syndrome was described, highlighting the geographical and racial variability of the disease.
FRONTIERS IN PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Li Wang, Yana Zhao, Lan Ma
Summary: This study described different combinations of waveforms on one ECG, such as the Brugada pattern with delta waves and the Brugada pattern with paroxysmal supraventricular tachycardia (PSVT). By analyzing Holter data, it was confirmed that the changes in waveform were related to fever.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Karyn M. Austin, Mark E. Alexander, John K. Triedman
Summary: T-wave memory (TWM) in children, caused by altered ventricular depolarization due to accessory pathway conduction, is less common compared to adults and typically resolves within 3 months post-ablation. Leftward pre-excited QRS axis and posteroseptal pathway location are the most predictive features for the development of TWM.
Article
Cardiac & Cardiovascular Systems
Lei Zhao, Ruibin Li, Long Bai, Dong Wang, Jidong Zhang, Xiaohong Yang
Summary: This article presents a case of successful radiofrequency catheter ablation in a patient with Wolff-Parkinson-White syndrome and dextrocardia. The importance of understanding the anatomical structure of the heart and developing a personalized operative plan is discussed.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Cardiac & Cardiovascular Systems
Kimberly N. Hong, Emily A. Eshraghian, Michael Arad, Alessia Argiro, Michela Brambatti, Quan Bui, Oren Caspi, Fernando de Frutos, Barry Greenberg, Carolyn Y. Ho, Juan Pablo Kaski, Iacopo Olivotto, Matthew R. G. Taylor, Abigail Yesso, Pablo Garcia-Pavia, Eric D. Adler
Summary: Danon disease is a rare genetic cardiomyopathy characterized by severe heart failure and various extracardiac symptoms. It is caused by loss of function variants in the LAMP2 gene and often leads to early mortality from heart failure or arrhythmia.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Maria Munk Paerregaard, Joachim Hartmann, Anne-Sophie Sillesen, Christian Pihl, Sofie Dannesbo, Thilde Olivia Kock, Adrian Pietersen, Anna Axelsson Raja, Kasper Karmark Iversen, Henning Bundgaard, Alex Horby Christensen
Summary: The aim of this study was to determine the prevalence of Wolff-Parkinson-White (WPW) syndrome in neonates and describe its electro- and echocardiographic characteristics as well as its natural history during early childhood. The study found that the prevalence of WPW syndrome in unselected neonates was 0.1%, more common in males, and not typically associated with structural heart disease. The accessory pathways were primarily left-sided. At follow-up, the WPW pattern had disappeared in most children.
Review
Cardiac & Cardiovascular Systems
Susan P. Etheridge, Lindsey Gakenheimer-Smith, S. Yukiko Asaki, Mary Niu
Summary: With increased electrocardiogram screening, asymptomatic preexcitation has become more prevalent and it is important to consider the risk associated with asymptomatic WPW syndrome. Recent findings show that there are no differences in clinical or electrophysiology study characteristics between symptomatic and asymptomatic patients, highlighting the need for further risk stratification. In children, an aggressive approach to asymptomatic WPW is warranted due to the low but front-loaded risk of sudden death.
CURRENT CARDIOLOGY REPORTS
(2023)
Article
Pharmacology & Pharmacy
Dor Yadin, Zachary Petrover, Asher Shainberg, Ronny Alcalai, Maayan Waldman, Jon Seidman, Christine E. Seidman, Nader G. Abraham, Edith Hochhauser, Michael Arad
Summary: Danon disease is a lethal genetic syndrome primarily affecting the heart, skeletal muscle, and central nervous system. Deficiency in the LAMP2 protein, caused by mutations in the LAMP2 gene, leads to defective lysosomal function and autophagy arrest. A mouse model mimicking the cardiac phenotype of Danon disease was constructed and used to study the mechanisms and potential therapies. It was found that activating autophagy exacerbated the disease, while inhibiting autophagy had a mitigating effect. Therefore, it is suggested that activation of autophagy should be avoided in Danon patients.
BIOCHEMICAL PHARMACOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Sunu Budhi Raharjo, Ardhestiro Hanindyo Putro, Anwar Santoso, Dicky Armein Hanafy, Dony Yugo Hermanto, Sarah Humaira, Yoga Yuniadi
Summary: This study developed a simple algorithm to predict the location of an accessory pathway (AP) in Wolff-Parkinson-White Syndrome (WPW). The results showed that the algorithm had high sensitivity and specificity, as well as good inter-observer agreement. This algorithm has the potential to be a useful tool in clinical practice.
Article
Cardiac & Cardiovascular Systems
Jiameng Ren, Yanmin Yang, Jun Zhu, Shuang Wu, Juan Wang, Han Zhang, Xinghui Shao
Summary: This retrospective study analyzed 30 patients with WPW syndrome and AF who were intravenously administered amiodarone. The results showed that most patients had stable hemodynamics, low admission heart rate, few comorbidities, older age, and no prior syncope. A loading dose of 150 mg appeared to be preferred, and the maintenance period was better to less than 12 hours.
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
(2021)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)