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Cardiogenetics, Volume 12, Issue 2

2022 June - 6 articles

Cover Story: 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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Articles (6)

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Case Report

1 Citations

3,643 Views

6 Pages

Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy

Francesca Girolami,
Silvia Passantino,
Adelaide Ballerini,
Alessia Gozzini,
Giulio Porcedda,
Iacopo Olivotto and
Silvia Favilli

Cardiogenetics2022, 12(2), 206-211;https://doi.org/10.3390/cardiogenetics12020019

10 June 2022

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 transp...

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Article

3 Citations

4,910 Views

8 Pages

Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort

Elías Cuesta-Llavona,
Rebeca Lorca,
Beatriz Díaz-Molina,
José L. Lambert-Rodríguez,
Julián R. Reguero,
Sara Iglesias,
Belén Alonso,
Alejandro Junco-Vicente,
Vanesa Alonso and
Juan Gómez
+ 1 author

Cardiogenetics2022, 12(2), 198-205;https://doi.org/10.3390/cardiogenetics12020018

9 May 2022

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...

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Article

4 Citations

6,979 Views

13 Pages

Modified Body Mass Index as a Novel Nutritional and Prognostic Marker in Patients with Cardiac Amyloidosis

Francesca Dongiglio,
Giuseppe Palmiero,
Emanuele Monda,
Marta Rubino,
Federica Verrillo,
Martina Caiazza,
Annapaola Cirillo,
Adelaide Fusco,
Erica Vetrano and
Giuseppe Limongelli
+ 6 authors

Cardiogenetics2022, 12(2), 185-197;https://doi.org/10.3390/cardiogenetics12020017

13 April 2022

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 t...

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Review

3 Citations

6,742 Views

15 Pages

Left Ventricular Non-Compaction Spectrum in Adults and Children: From a Morphological Trait to a Structural Muscular Disease

Flavia Fusco,
Nunzia Borrelli,
Rosaria Barracano,
Giovanni Domenico Ciriello,
Federica Verrillo,
Giancarlo Scognamiglio and
Berardo Sarubbi

Cardiogenetics2022, 12(2), 170-184;https://doi.org/10.3390/cardiogenetics12020016

1 April 2022

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...

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Review

2 Citations

6,080 Views

28 Pages

Clinical Phenotypes of Cardiovascular and Heart Failure Diseases Can Be Reversed? The Holistic Principle of Systems Biology in Multifaceted Heart Diseases

Katerina G. Lourida and
George E. Louridas

Cardiogenetics2022, 12(2), 142-169;https://doi.org/10.3390/cardiogenetics12020015

1 April 2022

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 c...

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Case Report

1 Citations

7,353 Views

9 Pages

Pancarditis as the Clinical Presentation of Eosinophilic Granulomatosis with Polyangiitis: A Multimodality Approach to Diagnosis

Michele Lioncino,
Emanuele Monda,
Santo Dellegrottaglie,
Annapaola Cirillo,
Martina Caiazza,
Adelaide Fusco,
Francesca Esposito,
Federica Verrillo,
Giovanni Ciccarelli and
Giuseppe Limongelli
+ 10 authors

Cardiogenetics2022, 12(2), 133-141;https://doi.org/10.3390/cardiogenetics12020014

28 March 2022

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 pres...

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Cardiogenetics - ISSN 2035-8148

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