Review
Biochemistry & Molecular Biology
Elena Ignatieva, Natalia Smolina, Anna Kostareva, Renata Dmitrieva
Summary: Mitochondrial dysfunction is considered the main cause of skeletal muscle wasting in various conditions, and genetically determined neuromuscular disorders often present with cardiac phenotypes. The specific roles of mitochondria in skeletal muscle under muscle-wasting conditions in cardiomyopathies have not been extensively studied.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
M. Pagano, C. Fumagalli, F. Girolami, S. Passantino, A. Gozzini, A. Brambilla, V. Spinelli, A. Morrone, E. Procopio, F. Pochiero, M. A. Donati, I. Olivotto, S. Favilli
Summary: This study reported the etiology, clinical profile, and outcome of a consecutive cohort of children diagnosed with pediatric cardiomyopathies. Hypertrophic cardiomyopathy was the most common phenotype, followed by dilated cardiomyopathy. The worst prognosis was observed in patients with infantile onset and metabolic etiology.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Article
Genetics & Heredity
Ella Field, Gabrielle Norrish, Vanessa Acquaah, Kathleen Dady, Marcos Nicolas Cicerchia, Juan Pablo Ochoa, Petros Syrris, Karen McLeod, Ruth McGowan, Hannah Fell, Luis R. Lopes, Elena Cervi, Juan Pablo Pablo Kaski
Summary: This study investigated the natural history and clinical outcomes of children with HCM and pathogenic/likely pathogenic MYBPC3 variants. The findings indicate that MYBPC3 variants can cause childhood-onset disease with life-threatening ventricular arrhythmias. The study highlights the importance of identifying specific genetic subtypes for clinical management of childhood HCM.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
F. Girolami, V. Spinelli, S. Passantino, E. Bennati, G. B. Calabri, I. Olivotto, S. Favilli
Summary: Pediatric cardiomyopathies exhibit significant phenotypic and genetic heterogeneity, and genetic testing plays a key role in diagnosis and treatment.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Rahul Goli, Jian Li, Jeff Brandimarto, Lisa D. Levine, Valerie Riis, Quentin McAfee, Steven DePalma, Alireza Haghighi, J. G. Seidman, Christine E. Seidman, Daniel Jacoby, George Macones, Daniel P. Judge, Sarosh Rana, Kenneth B. Margulies, Thomas P. Cappola, Rami Alharethi, Julie Damp, Eileen Hsich, Uri Elkayam, Richard Sheppard, Jeffrey D. Alexis, John Boehmer, Chizuko Kamiya, Finn Gustafsson, Peter Damm, Anne S. Ersboll, Sorel Goland, Denise Hilfiker-Kleiner, Dennis M. McNamara, Zolt Arany
Summary: The study found that 10.4% of women with PPCM carried TTNtvs, and there was a significant increase in truncating variants in FLNC, DSP, and BAG3. Women with TTNtvs had lower left ventricular ejection fraction on presentation, but did not differ significantly in timing of presentation after delivery, prevalence of preeclampsia, or rates of clinical recovery compared to those without TTNtvs.
Article
Cardiac & Cardiovascular Systems
Silvia Castelletti, Belinda Gray, Cristina Basso, Elijah R. Behr, Lia Crotti, Perry M. Elliott, Cecilia M. Gonzalez Corcia, Flavio D'Ascenzi, Jodie Ingles, Bart Loeys, Antonis Pantazis, Guido E. Pieles, Johan Saenen, Georgia Sarquella Brugada, Maria Sanz de la Garza, Sanjay Sharma, Emeline M. Van Craenebroek, Arthur Wilde, Michael Papadakis
Summary: Sports Cardiology practice involves evaluating athletes for genetic cardiac conditions that may lead to serious heart problems. Genetic testing has become more accessible and affordable, but its role and significance in athletes with suspected cardiac conditions are still unclear.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Article
Medicine, General & Internal
Andreea Teodora Constantin, Ioana Streata, Mirela Silvia Covacescu, Anca Lelia Riza, Ioana Rosca, Corina Delia, Lucia Maria Tudor, Stefania Dorobantu, Adina Dragos, Diana Ristea, Mihai Ioana, Ioan Gherghina
Summary: This study conducted genetic testing for FH in a group of 20 Romanian pediatric patients. Pathogenic/likely pathogenic variants in genes LDLR and APOB were identified in 5 cases. Early diagnosis and prevention through lipid panel screening in childhood can be life-saving for FH patients.
Review
Biochemistry & Molecular Biology
Simone Grassi, Oscar Campuzano, Monica Coll, Francesca Cazzato, Georgia Sarquella-Brugada, Riccardo Rossi, Vincenzo Arena, Josep Brugada, Ramon Brugada, Antonio Oliva
Summary: Inherited cardiomyopathies are common causes of sudden cardiac death in young patients, with distinctive diagnostic features at autopsy but potentially ambiguous phenotypes. This review discusses the main differential diagnoses of hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, and dilated cardiomyopathy, as well as diagnostic issues and genetic variant assessment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Fangzhi Jia, Avi Fellner, Kishore Raj Kumar
Summary: Parkinson's disease can be caused by a single pathogenic variant, but studying the genetic factors can provide important insights into the disease. This review discusses the different genetic forms, including their genotype, phenotype, pathophysiology, and geographic and ethnic distribution. It also highlights the influence of ethnicity and geography on monogenic Parkinson's disease and the need for global efforts to identify new candidate genes.
Article
Cardiac & Cardiovascular Systems
Ray E. Hershberger, Jason Cowan, Elizabeth Jordan, Daniel D. Kinnamon
Summary: Insights into the genetic architecture of dilated cardiomyopathy (DCM) are rapidly evolving, showing a complex and diverse nature. In addition to monogenic structures, oligogenic basis, rare variants, low-frequency, and common genetic variations may contribute to the complexity of DCM, along with gene-environment interactions.
CIRCULATION RESEARCH
(2021)
Article
Genetics & Heredity
Karolina Melinyte-Ankudavice, Marius Sukys, Jurgita Plisiene, Renaldas Jurkevicius, Egle Ereminiene
Summary: A case report of a 22-year-old male patient who visited a cardiologist after experiencing his first episode of atrial fibrillation (AF) is presented. The patient was found to have decreased left ventricular systolic function and dilation. Genetic testing revealed a pathogenic variant of the BAG3 gene. Due to the high risk of heart failure progression and ventricular arrhythmias, the patient received an event recorder implant and pathogenetic heart failure treatment. His father was also diagnosed with dilated cardiomyopathy and recurrent AF.
Article
Genetics & Heredity
Zhang Chuan, Cai Ruikun, Li Qian, Mei Shiyue, Hao Shengju, Yuan Yong, Li Haibo, Xiao Neng, Zhao Yong, Xue Huiqin, Wang Weijia, Hui Ling, Zhou Bingbo, Qinghua Zhang, Wang Yan, Cao Zongfu, Ma Xu
Summary: This study analyzed a Chinese cohort of infants and children with epilepsy to identify genetic and phenotype characteristics. Through whole exome sequencing, a genetic diagnosis was established in 135 out of 260 patients. The study identified 142 variants in 81 genes, of which 87 variants in 66 genes were novel.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Sanda Alexandrescu, Erin Plews-Ogan, Elisabeth A. Haas, Catherine A. Brownstein, Sara O. Vargas, Robin L. Haynes, Gerard T. Berry, Ingrid A. Holm, Annapurna H. Poduri, Richard D. Goldstein
Summary: This study aimed to evaluate genetic contributions to sudden unexpected death. Through exome sequencing and analysis of 352 cases, genetic variants related to sudden death were identified. The study also found an excess burden of de novo pathogenic variants and damaging gene variants in individuals with sudden unexpected death.
GENETICS IN MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Priyanka Ahimaz, Maya Sabatello, Min Qian, Aijin Wang, Erin M. Miller, Ashley Parrott, Ashwin K. Lal, Kathryn C. Chatfield, Joseph W. Rossano, Stephanie M. Ware, John J. Parent, Paul Kantor, Lisa Yue, Julia Wynn, Teresa M. Lee, Linda J. Addonizio, Paul S. Appelbaum, Wendy K. Chung
Summary: This study aimed to understand how parents involve their children in genetic testing for cardiomyopathy and investigate the impact of genetic results on family dynamics. Findings showed that parents of children with cardiomyopathy were more likely to disclose positive genetic results to their child, while parents of unaffected children with positive predictive results were more likely to experience negative emotions about the results.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Genetics & Heredity
Lisa P. Spees, Karen Hicklin, Michael C. Adams, Laura Farnan, Jeannette T. Bensen, Donna B. Gilleskie, Jonathan S. Berg, Bradford C. Powell, Kristen Hassmiller Lich
Summary: This study aims to develop a method for identifying patients with suspected genetic diseases and assess their healthcare utilization. The results show that code-based strategies can accurately determine the presence of genetic diseases and contribute to comprehensive diagnosis and treatment for patients.
GENETICS IN MEDICINE
(2022)