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Article: Cardiopulmonary Exercise Testing after Surgical Repair of Tetralogy of Fallot-Does Modality Matter?

Leonardi, Benedetta / Sollazzo, Fabrizio / Gentili, Federica / Bianco, Massimiliano / Pomiato, Elettra / Kikina, Stefani Silva / Wald, Rachel Maya / Palmieri, Vincenzo / Secinaro, Aurelio / Calcagni, Giulio / Butera, Gianfranco / Giordano, Ugo / Cafiero, Giulia / Drago, Fabrizio

Journal of clinical medicine

2024 Volume 13, Issue 5

Abstract: Background: Despite a successful repair of tetralogy of Fallot (rToF) in childhood, residual lesions are common and can contribute to impaired exercise capacity. Although both cycle ergometer and treadmill protocols are often used interchangeably these ... ...

Abstract	Background: Despite a successful repair of tetralogy of Fallot (rToF) in childhood, residual lesions are common and can contribute to impaired exercise capacity. Although both cycle ergometer and treadmill protocols are often used interchangeably these approaches have not been directly compared. In this study we examined cardiopulmonary exercise test (CPET) measurements in rToF. Methods: Inclusion criteria were clinically stable rToF patients able to perform a cardiac magnetic resonance imaging (CMR) and two CPET studies, one on the treadmill (incremental Bruce protocol) and one on the cycle ergometer (ramped protocol), within 12 months. Demographic, surgical and clinical data; functional class; QRS duration; CMR measures; CPET data and international physical activity questionnaire (IPAQ) scores of patients were collected. Results: Fifty-seven patients were enrolled (53% male, 20.5 ± 7.8 years at CPET). CMR measurements included a right ventricle (RV) end-diastolic volume index of 119 ± 22 mL/m Conclusions: The majority of CPET measurements differed according to the modality of testing, with the exception being the VE/VCO
Language	English
Publishing date	2024-02-20
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm13051192
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Diagnostics (Basel, Switzerland)

2024 Volume 14, Issue 6

Abstract: Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic ... ...

Abstract	Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the
Language	English
Publishing date	2024-03-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics14060594
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Article ; Online: Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.

Pugnaloni, Flaminia / Onesimo, Roberta / Blandino, Rita / Putotto, Carolina / Versacci, Paolo / Delogu, Angelica Bibiana / Leoni, Chiara / Trevisan, Valentina / Croci, Ileana / Calì, Federica / Digilio, Maria Cristina / Zampino, Giuseppe / Marino, Bruno / Calcagni, Giulio

Genes

2023 Volume 14, Issue 1

Abstract: Chromosome 9p deletion syndrome is a rare autosomal dominant disorder presenting with a broad spectrum of clinical features, including congenital heart defects (CHDs). To date, studies focused on a deep characterization of cardiac phenotype and function ... ...

Abstract	Chromosome 9p deletion syndrome is a rare autosomal dominant disorder presenting with a broad spectrum of clinical features, including congenital heart defects (CHDs). To date, studies focused on a deep characterization of cardiac phenotype and function associated with this condition are lacking. We conducted a multicentric prospective observational study on a cohort of 10 patients with a molecular diagnosis of 9p deletion syndrome, providing a complete cardiological assessment through conventional echocardiography and tissue Doppler imaging echo modality. As a result, we were able to demonstrate that patients with 9p deletion syndrome without major CHDs may display subclinical cardiac structural changes and left-ventricle systolic and diastolic dysfunction. Albeit needing validation in a larger cohort, our findings support the idea that a complete cardiac assessment should be performed in patients with 9p deletion syndrome and should be integrated in the context of a long-term follow-up.
MeSH term(s)	Humans ; Abnormalities, Multiple/genetics ; Syndrome ; Chromosome Deletion ; Phenotype ; Observational Studies as Topic ; Multicenter Studies as Topic
Language	English
Publishing date	2023-01-05
Publishing country	Switzerland
Document type	Review ; Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14010146
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Article: Cardiopulmonary Exercise Testing in Children and Young Adolescents after a Multisystem Inflammatory Syndrome: Physical Deconditioning or Residual Pathology?

Gentili, Federica / Calcagni, Giulio / Cantarutti, Nicoletta / Manno, Emma Concetta / Cafiero, Giulia / Tranchita, Eliana / Salvati, Annamaria / Palma, Paolo / Giordano, Ugo / Drago, Fabrizio / Turchetta, Attilio

Journal of clinical medicine

2023 Volume 12, Issue 6

Abstract: Multisystem inflammatory syndrome in children (MIS-C) is a serious health condition that imposes a long-term follow-up. The purpose of our pilot study is to evaluate the usefulness of the cardiopulmonary stress test (CPET) in the follow-up after MIS-C. ... ...

Abstract	Multisystem inflammatory syndrome in children (MIS-C) is a serious health condition that imposes a long-term follow-up. The purpose of our pilot study is to evaluate the usefulness of the cardiopulmonary stress test (CPET) in the follow-up after MIS-C. All patients admitted for MIS-C in our hospital in the 12 months preceding the date of observation were considered for inclusion in the study. Pre-existing cardio-respiratory diseases and/or the lack of collaboration were the exclusion criteria. At enrolment, each subject passed a cardiological examination, rest ECG, echocardiogram, 24 h Holter-ECG, blood tests, and a CPET complete of spirometry. A total of 20 patients met the inclusion criteria (11.76 ± 3.29 years, 13 male). In contrast to the normality of all second-level investigations, CPET showed lower-than-expected peakVO
Language	English
Publishing date	2023-03-19
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12062375
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Article ; Online: Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.

Calcagni, Giulio / Digilio, Maria Cristina / Marino, Bruno / Tartaglia, Marco

Orphanet journal of rare diseases

2019 Volume 14, Issue 1, Page(s) 163

Abstract: The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of ... ...

Abstract	The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment.
MeSH term(s)	Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/genetics ; Female ; Heart Defects, Congenital/genetics ; Humans ; Male ; Mutation/genetics ; Mutation, Missense/genetics ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Signal Transduction/genetics ; Signal Transduction/physiology
Chemical Substances	PTPN11 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48)
Language	English
Publishing date	2019-07-05
Publishing country	England
Document type	Letter
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-019-1151-0
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Article: Double-Outlet Left Ventricle: Case Series and Systematic Review of the Literature.

Lioncino, Michele / Calcagni, Giulio / Badolato, Fausto / Antonelli, Giovanni / Leonardi, Benedetta / de Zorzi, Andrea / Secinaro, Aurelio / Brancaccio, Gianluca / Albanese, Sonia / Carotti, Adriano / Drago, Fabrizio / Rinelli, Gabriele

Diagnostics (Basel, Switzerland)

2023 Volume 13, Issue 20

Abstract: Double-outlet left ventricle (DOLV) is an abnormal ventriculo-arterial connection characterized by the origin of both great arteries from the morphological left ventricle. The aim of our paper is to describe the morphological and imaging features of DOLV ...

Abstract	Double-outlet left ventricle (DOLV) is an abnormal ventriculo-arterial connection characterized by the origin of both great arteries from the morphological left ventricle. The aim of our paper is to describe the morphological and imaging features of DOLV and to assess the prevalence of the associated malformations and their surgical outcomes. METHODS From 2011 to 2022, we retrospectively reviewed the electronic case records of patients diagnosed with DOLV at the Bambino Gesu Children's Hospital. A systematic search was developed in MEDLINE, Web of Science, and EMBASE databases to identify reports assessing the morphology and outcomes of DOLV between 1975 and 2023. RESULTS: Over a median follow-up of 9.9 years (IQR 7.8-11.7 y), four cases of DOLV were identified at our institution. Two patients were diagnosed with (S,D,D) DOLV subaortic VSD and pulmonary stenosis (PS): one patient had (S,D,D) DOLV with doubly committed VSD and hypoplastic right ventricle, and another patient had (S,D,L) DOLV with subaortic VSD and PS (malposition type). Pulmonary stenosis was the most commonly associated lesion (75%). LITERATURE REVIEW: After systematic evaluation, a total of 12 reports fulfilled the eligibility criteria and were included in our analysis. PS or right ventricular outflow tract obstruction was the most commonly associated lesion (69%, 95% CI 62-76%). The most common locations of VSD were subaortic (pooled prevalence: 75%, 95% CI 68-81), subpulmonary (15%, 95% CI 10-21), and doubly committed (7%, 95% CI 4-12). The position of the great arteries showed that d-transposition of the aorta was present in 128 cases (59% 95% CI 42-74), and l-transposition was present in 77 cases (35%, 95% CI 29-43).
Language	English
Publishing date	2023-10-11
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics13203175
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Article ; Online: Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome.

Digilio, M Cristina / Calcagni, Giulio / De Luca, Alessandro / Guida, Valentina / Marino, Bruno

The Journal of pediatrics

2019 Volume 218, Page(s) 263–264

MeSH term(s)	Bardet-Biedl Syndrome ; Heart Septal Defects ; Heterotaxy Syndrome ; Humans ; Situs Inversus
Language	English
Publishing date	2019-12-13
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2019.10.050
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Article ; Online: SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?

Citoni, Barbara / Digilio, Maria Cristina / Capolino, Rossella / Gagliardi, Maria Giulia / Campana, Andrea / Drago, Fabrizio / Calcagni, Giulio

Genes

2021 Volume 12, Issue 11

Abstract: Pericarditis with pericardial effusion in SARS CoV-2 infection is a well-known entity in adults. In children and adolescents, only a few cases have been reported. Here, we present here a case of a 15-year-old girl affected by Sotos syndrome with pre- ... ...

Abstract	Pericarditis with pericardial effusion in SARS CoV-2 infection is a well-known entity in adults. In children and adolescents, only a few cases have been reported. Here, we present here a case of a 15-year-old girl affected by Sotos syndrome with pre-tamponed pericardial effusion occurred during SARS-CoV-2 infection. A possible relation between SARS-CoV-2 pericarditis and genetic syndromes, as a major risk factor for the development of severe inflammation, has been speculated. We emphasize the importance of active surveillance by echocardiograms when SARS-CoV-2 infection occurs in combination with a genetic condition.
MeSH term(s)	Adolescent ; COVID-19/metabolism ; Cardiac Tamponade/complications ; Cardiac Tamponade/physiopathology ; Cardiac Tamponade/virology ; Echocardiography/adverse effects ; Female ; Humans ; Pericardial Effusion/physiopathology ; Pericarditis/complications ; Pericarditis/diagnosis ; Risk Factors ; SARS-CoV-2/metabolism ; SARS-CoV-2/pathogenicity ; Sotos Syndrome/complications ; Sotos Syndrome/virology
Language	English
Publishing date	2021-11-10
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12111782
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Article ; Online: Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy

Giulio Calcagni / Maria Cristina Digilio / Bruno Marino / Marco Tartaglia

Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-

the multifaceted consequences of PTPN11 mutations

2019 Volume 4

Abstract: Abstract The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different ... ...

Abstract	Abstract The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment.
Keywords	PI3K-AKT-mTOR ; MAPK ; Hypertrophic cardiomyopathy ; RASopathy ; Medicine ; R
Language	English
Publishing date	2019-07-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Multifaceted approach to plastic bronchitis.

Calcagni, Giulio / Di Carlo, Duccio / Grutter, Giorgia

The Annals of thoracic surgery

2015 Volume 99, Issue 3, Page(s) 1110–1111

MeSH term(s)	Bronchitis/etiology ; Bronchitis/therapy ; Female ; Fontan Procedure/adverse effects ; Humans ; Male
Language	English
Publishing date	2015-03
Publishing country	Netherlands
Document type	Comment ; Letter
ZDB-ID	211007-6
ISSN	1552-6259 ; 0003-4975
ISSN (online)	1552-6259
ISSN	0003-4975
DOI	10.1016/j.athoracsur.2014.09.055
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