Papers by Valentina Favalli
Journal of Human Hypertension
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Oxford Medicine Online
Left ventricular non-compaction (LVNC) describes a ventricular wall anatomy characterized by prom... more Left ventricular non-compaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme. The trabecular configuration represents a type of individual ‘cardioprinting’. By itself, the diagnosis of LVNC does not coincide with that of a ‘cardiomyopathy’ because it can be observed in healthy subjects with normal left ventricular size and function, and it can be acquired and reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy: the paradigmatic examples are infantile tafazzinopathies. The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggests cautious use of the term ‘LVNC cardiomyopathy’, which describes the morphology, but not the morpho-functional profile of the cardiomyopathy or the associated congenital disease. Therefore, when associated with left ventricular dilation...
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International Journal of Cardiology
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JACC: Cardiovascular Interventions
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Circulation, Jan 30, 2017
Background -Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of su... more Background -Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require prophylactic implantable cardioverter defibrillator (ICD) is challenging. In 2014, the European Society of Cardiology (ESC) proposed a new risk stratification method based on a risk prediction model (HCM Risk-SCD) which estimates the 5-year risk of SCD. The aim was to externally validate the 2014 ESC recommendations in a geographically diverse cohort of patients recruited from North America, Europe, The Middle East and Asia. Methods -This was an observational, retrospective, longitudinal cohort study. Results -The cohort consisted of 3703 patients. Seventy three (2%) patients reached the SCD end-point within 5 years of follow-up [5-year incidence 2.4% (95% CI 1.9, 3.0)]. The validation study revealed a calibration slope of 1.02 (95% CI 0.93 to 1.12); C-index 0.70 (95% CI 0.68 to 0.72) and D-statistic 1.17 (95% CI 1.05 to 1.29). In a complete case anal...
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Circulation: Cardiovascular Genetics
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Journal of the American College of Cardiology, Jan 7, 2017
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European Journal of Gastroenterology & Hepatology, 2017
Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, pre... more Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, presenting as the familial atypical mole/multiple melanoma syndrome (FAMMM), an autosomal dominant condition with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same patient. To identify individuals at high genetic risk of PCM, from 1 January 2012 to 31 December 2015, we offered genetic counselling and molecular analysis of the two high-penetrance FAMMM susceptibility genes, cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), to 92 consecutive, unrelated patients with FAMMM. Age at diagnosis and number of PCMs were obtained from medical records; the number of PCMs and affected relatives were recorded for each family. The diagnostic work-up consisted of genetic counselling and cascade genetic testing in patients and further extension to relatives of those identified as mutation carriers. All exons and exon/intron boundaries of CDKN2A and CDK4 genes were screened by direct bidirectional sequencing. We identified CDKN2A mutations in 19 of the 92 unrelated patients (20.6%) and in 14 additional, clinically healthy relatives. Eleven of these latter subsequently underwent excision of dysplastic nevi, but none developed PCM during a median follow-up of 37.3 months. In three patients from unrelated families, the novel CDKN2A p.D84V (c.251A>T) mutation was observed, associated with PCM in each pedigree. Genetic screening of FAMMM patients and their relatives can contribute towards specific primary and secondary prevention programmes for individuals at high genetic risk of PCM. The novel CDKN2A p.D84V (c.251A>T) mutation adds to the known mutations associated with FAMMM.
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Journal of Cardiovascular Medicine, 2016
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Heart, 2016
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Journal of the American College of Cardiology, 2016
Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by promi... more Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme, and trabeculae represent a sort of individual "cardioprinting." By itself, the diagnosis of LVNC does not coincide with that of a "cardiomyopathy" because it can be observed in healthy subjects with normal LV size and function, and it can be acquired and is reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy; the paradigmatic examples are infantile tafazzinopathies. When associated with LV dilation and dysfunction, hypertrophy, or congenital heart disease, the genetic cause may overlap. The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggests cautious use of the term LVNC cardiomyopathy, which describes the morphology but not the functional profile of the cardiomyopathy.
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Journal of the American College of Cardiology, 2016
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of t... more Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%. This study sought to expand screening from these settings to include ophthalmology, dermatology, gastroenterology, internal medicine, pediatrics, and medical genetics to increase diagnostic yield and comprehensively evaluate organ involvement in AFD patients. In a 10-year prospective multidisciplinary, multicenter study, we expanded clinical, genetic, and biochemical screening to consecutive patients enrolled from all aforementioned clinical settings. We tested the GLA gene and α-galactosidase A activity in plasma and leukocytes. Inclusion criteria comprised phenotypical traits and absence of male-to-male transmission. Screening was extended to relatives of probands harboring GLA mutations. Of 2,034 probands fulfilling inclusion criteria, 37 (1.8%) were carriers of GLA mutations. Cascade family screening identified 60 affected relatives; clinical data were available for 4 affected obligate carriers. Activity of α-galactosidase A in plasma and leukocytes was diagnostic in male subjects, but not in female subjects. Of the 101 family members harboring mutations, 86 were affected, 10 were young healthy carriers, and 5 refused clinical evaluation. In the 86 patients, involved organs or organ systems included the heart (69%), peripheral nerves (46%), kidney (45%), eye (37%), brain (34%), skin (32%), gastrointestinal tract (31%), and auditory system (19%). Globotriaosylceramide accumulated in organ-specific and non-organ-specific cells in atypical and classic variants, respectively. Screening probands with clinically suspected AFD significantly increased diagnostic yield. The heart was the organ most commonly involved, independent of the clinical setting in which the patient was first evaluated.
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JACC: Cardiovascular Imaging, 2016
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International Journal of Cardiology, 2016
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Journal of the American College of Cardiology, 2015
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Papers by Valentina Favalli