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Cardiogenetics, Volume 12, Issue 2 (June 2022) – 6 articles

Cover Story (view full-size image): The genetic background of pediatric cardiomyopathies is understudied because of their rarity and heterogeneity. Children affected by restrictive cardiomyopathy (RCM) often develop heart failure at a young age, requiring early heart transplantation. RCM is caused by pathogenic variants in several genes, including TNNT2, DES, TNNI3, MYPN, ACTC1, and FLNC. Recent data suggest that variants in the FLNC are associated with high-risk status and adverse outcome. In this paper, we identified a de novo pathogenic variant in FLNC via exome sequencing in a child with RCM. Genetic investigation is a powerful tool to clarify the diagnosis, identify the etiology, and offer genetic counseling. Personalizing genetic testing strategies may yield clinically important results in children with cardiomyopathies. View this paper
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6 pages, 1151 KiB  
Case Report
Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy
by Francesca Girolami, Silvia Passantino, Adelaide Ballerini, Alessia Gozzini, Giulio Porcedda, Iacopo Olivotto and Silvia Favilli
Cardiogenetics 2022, 12(2), 206-211; https://doi.org/10.3390/cardiogenetics12020019 - 10 Jun 2022
Cited by 1 | Viewed by 2293
Abstract
Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including TNNT2, DES, TNNI3, MYPN and FLNC. Individuals affected by RCM often develop heart failure at a young age, requiring early heart transplantation. A 7-year-old patient [...] Read more.
Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including TNNT2, DES, TNNI3, MYPN and FLNC. Individuals affected by RCM often develop heart failure at a young age, requiring early heart transplantation. A 7-year-old patient was referred for genetic testing following a diagnosis of restrictive cardiomyopathy. Clinical exome sequencing analysis identified a likely pathogenic mutation in the FLNC gene [(NM_001458.5 c.6527_6547dup p.(Arg2176_2182dup)]. Its clinical relevance was augmented by the fact that this variant was absent in the parents and was thus interpreted as de novo. Genetic testing is a powerful tool to clarify the diagnosis, guide intervention strategies and enable cascade testing in patients with pediatric-onset RCM. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2022)
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8 pages, 249 KiB  
Article
Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort
by Elías Cuesta-Llavona, Rebeca Lorca, Beatriz Díaz-Molina, José L. Lambert-Rodríguez, Julián R. Reguero, Sara Iglesias, Belén Alonso, Alejandro Junco-Vicente, Vanesa Alonso, Eliecer Coto and Juan Gómez
Cardiogenetics 2022, 12(2), 198-205; https://doi.org/10.3390/cardiogenetics12020018 - 09 May 2022
Cited by 3 | Viewed by 2902
Abstract
In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring a heart transplantation. We identified a total of 48 candidate variants in 47 patients. Forty-three patients (90%) presented a single variant, and fourpatients (10%) [...] Read more.
In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring a heart transplantation. We identified a total of 48 candidate variants in 47 patients. Forty-three patients (90%) presented a single variant, and fourpatients (10%) were carriers of two variants. After refining the classification, we identified a pathogenic or likely pathogenic variant in 13 patients (10% of our cohort). In 34 additional cases (25%) the variants were classified as of unknown significance (VUS). In reference to the cause of cardiac failure in the 13 carriers of pathogenic variants, 5 were of dilated non-ischemic cause, 4 hypertrophic and 1 restrictive cardiomyopathy. In the ischemic cases (n = 3) no family history of cardiac disease was recorded, while nineof the non-ischemic had other relatives who were also diagnosed. In conclusion, the NGS of a cardiac transplanted cohort identified a definite or very likely genetic cause in 10% of the cases. Most of them had a family history of cardiac disease, and were thus previously studied as part of a routine screening by a genetic counselor. Pathogenic variants in cases without a family history of cardiac disease were mainly of ischemic origin. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
13 pages, 754 KiB  
Article
Modified Body Mass Index as a Novel Nutritional and Prognostic Marker in Patients with Cardiac Amyloidosis
by Francesca Dongiglio, Giuseppe Palmiero, Emanuele Monda, Marta Rubino, Federica Verrillo, Martina Caiazza, Annapaola Cirillo, Adelaide Fusco, Erica Vetrano, Michele Lioncino, Gaetano Diana, Francesco Di Fraia, Giuseppe Cerciello, Fiore Manganelli, Olga Vriz and Giuseppe Limongelli
Cardiogenetics 2022, 12(2), 185-197; https://doi.org/10.3390/cardiogenetics12020017 - 13 Apr 2022
Cited by 1 | Viewed by 3539
Abstract
The nutritional assessment is gaining clinical relevance since cardiac cachexia and malnutrition are emerging as novel markers of functional status and prognosis in many cardiovascular disorders, including cardiac amyloidosis (CA). This study aimed to evaluate the prognostic role of different nutritional indices for [...] Read more.
The nutritional assessment is gaining clinical relevance since cardiac cachexia and malnutrition are emerging as novel markers of functional status and prognosis in many cardiovascular disorders, including cardiac amyloidosis (CA). This study aimed to evaluate the prognostic role of different nutritional indices for cardiovascular mortality in patients with CA and subgroups. Fifty CA patients (26 AL and 24 ATTR wild-type) were retrospectively analyzed. All patients underwent a comprehensive clinical and laboratory evaluation. Conventional body mass index (cBMI), modified BMI (mBMI), new BMI (nBMI) and prognostic nutritional index (PNI) were analyzed. Multivariate regression analysis was performed to identify the association between nutritional and other clinical-laboratory parameters with cardiovascular death. Compared to ATTRwt patients, those with AL showed lower mBMI values. No significant difference was observed for the other nutritional indices. During a median follow-up of 11.2 months, a lower mBMI quartile was associated with worse survival, in both groups. In multivariate analysis, mBMI emerged as an independent predictor for cardiovascular death. This study showed that mBMI is a novel index of malnutrition and an independent risk factor for cardiovascular mortality in patients with CA in both AL and ATTRwt form. Full article
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15 pages, 2489 KiB  
Review
Left Ventricular Non-Compaction Spectrum in Adults and Children: From a Morphological Trait to a Structural Muscular Disease
by Flavia Fusco, Nunzia Borrelli, Rosaria Barracano, Giovanni Domenico Ciriello, Federica Verrillo, Giancarlo Scognamiglio and Berardo Sarubbi
Cardiogenetics 2022, 12(2), 170-184; https://doi.org/10.3390/cardiogenetics12020016 - 01 Apr 2022
Cited by 2 | Viewed by 3828
Abstract
Left ventricular non-compaction (LVNC) is an extremely heterogeneous disorder with a highly variable clinical presentation, morphologic appearance at imaging testing, and prognosis. It is still unclear whether LVNC should be classified as a separate cardiomyopathy or if it is a mere morphological trait [...] Read more.
Left ventricular non-compaction (LVNC) is an extremely heterogeneous disorder with a highly variable clinical presentation, morphologic appearance at imaging testing, and prognosis. It is still unclear whether LVNC should be classified as a separate cardiomyopathy or if it is a mere morphological trait shared by many phenotypically distinct cardiomyopathies. Moreover, the hypertrabeculated phenotype may be reversible in some cases, possibly reflecting the left ventricular physiological response of the cardiac muscle to chronic overload. The current diagnostic criteria have several limitations, leaving many patients in a grey area. Here, we review the available literature on LVNC in order to provide an overview of the current knowledge on this complex disorder. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
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28 pages, 3076 KiB  
Review
Clinical Phenotypes of Cardiovascular and Heart Failure Diseases Can Be Reversed? The Holistic Principle of Systems Biology in Multifaceted Heart Diseases
by Katerina G. Lourida and George E. Louridas
Cardiogenetics 2022, 12(2), 142-169; https://doi.org/10.3390/cardiogenetics12020015 - 01 Apr 2022
Viewed by 3850
Abstract
Recent advances in cardiology and biological sciences have improved quality of life in patients with complex cardiovascular diseases (CVDs) or heart failure (HF). Regardless of medical progress, complex cardiac diseases continue to have a prolonged clinical course with high morbidity and mortality. Interventional [...] Read more.
Recent advances in cardiology and biological sciences have improved quality of life in patients with complex cardiovascular diseases (CVDs) or heart failure (HF). Regardless of medical progress, complex cardiac diseases continue to have a prolonged clinical course with high morbidity and mortality. Interventional coronary techniques together with drug therapy improve quality and future prospects of life, but do not reverse the course of the atherosclerotic process that remains relentlessly progressive. The probability of CVDs and HF phenotypes to reverse can be supported by the advances made on the medical holistic principle of systems biology (SB) and on artificial intelligence (AI). Studies on clinical phenotypes reversal should be based on the research performed in large populations of patients following gathering and analyzing large amounts of relative data that embrace the concept of complexity. To decipher the complexity conundrum, a multiomics approach is needed with network analysis of the biological data. Only by understanding the complexity of chronic heart diseases and explaining the interrelationship between different interconnected biological networks can the probability for clinical phenotypes reversal be increased. Full article
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9 pages, 12872 KiB  
Case Report
Pancarditis as the Clinical Presentation of Eosinophilic Granulomatosis with Polyangiitis: A Multimodality Approach to Diagnosis
by Michele Lioncino, Emanuele Monda, Santo Dellegrottaglie, Annapaola Cirillo, Martina Caiazza, Adelaide Fusco, Francesca Esposito, Federica Verrillo, Giovanni Ciccarelli, Marta Rubino, Massimo Triggiani, Raffaele Scarpa, Alida Linda Patrizia Caforio, Renzo Marcolongo, Stefania Rizzo, Cristina Basso, Gerardo Nigro, Maria Giovanna Russo, Paolo Golino and Giuseppe Limongelli
Cardiogenetics 2022, 12(2), 133-141; https://doi.org/10.3390/cardiogenetics12020014 - 28 Mar 2022
Cited by 1 | Viewed by 4939
Abstract
Eosinophilic pancarditis (EP) is a rare, often unrecognized condition caused by endomyocardial infiltration of eosinophil granulocytes (referred as eosinophilic myocarditis, EM) associated with pericardial involvement. EM has a variable clinical presentation, ranging from asymptomatic cases to acute cardiogenic shock requiring mechanical circulatory support [...] Read more.
Eosinophilic pancarditis (EP) is a rare, often unrecognized condition caused by endomyocardial infiltration of eosinophil granulocytes (referred as eosinophilic myocarditis, EM) associated with pericardial involvement. EM has a variable clinical presentation, ranging from asymptomatic cases to acute cardiogenic shock requiring mechanical circulatory support (MCS) or chronic restrictive cardiomyopathy at high risk of progression to dilated cardiomyopathy (DCM). EP is associated with high in-hospital mortality, particularly when associated to endomyocardial thrombosis, coronary arteries vasculitis or severe left ventricular systolic dysfunction. To date, there is a lack of consensus about the optimal diagnostic algorithm and clinical management of patients with biopsy-proven EP. The differential diagnosis includes hypersensitivity myocarditis, eosinophil granulomatosis with polyangiitis (EGPA), hypereosinophilic syndrome, parasitic infections, pregnancy-related hypereosinophilia, malignancies, drug overdose (particularly clozapine) and Omenn syndrome (OMIM 603554). To our knowledge, we report the first case of pancarditis associated to eosinophilic granulomatosis with polyangiitis (EGPA) with negative anti-neutrophil cytoplasmic antibodies (ANCA). Treatment with steroids and azathioprine was promptly started. Six months later, the patient developed a relapse: treatment with subcutaneous mepolizumab was added on the top of standard therapy, with prompt disease activity remission. This case highlights the role of a multimodality approach for the diagnosis of cardiac involvement associated to systemic immune disorders. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2022)
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