Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms

Barriales‐Villa, Roberto; Gimeno-Blanes, Juan Ramón; Zorio‐Grima, Esther; Ripoll‐Vera, Tomás; Evangelista-Masip, Artur; Moya-Mitjans, Àngel; Serratosa-Fernández, Luis; Brotons, Dimpna Albert; García‐Pinilla, José Manuel; García‐Pavía, Pablo

doi:10.1016/j.rec.2015.11.029

Cited by 19 publications

(16 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Such units consist of cardiologists, cardiac surgeons, ophthalmologists, orthopaedic specialists and geneticists who facilitate the correct management of patients who suffer the complex pathology of a disorder such as MFS and other patients affected by fibrillin-related disorders who do not strictly meet MFS criteria. Such teams can adapt to the specific clinical and genetic characteristics of each patient, and can also make sense of the enormous amount of information obtained from genetic studies [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

Becerra-Muñoz

Gómez‐Doblas

Porras

et al. 2018

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

BackgroundMarfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS.Material and methodsThis single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016.ResultsThe study included 90 patients with FBN-1 variants corresponding to 58 non-interrelated families. Of the 57 FBN-1 variants found, 25 (43.9%) had previously been described, 23 of which had been identified as associated with MFS, while the the remainder are described for the first time. For 84 patients (93.3%), it was possible to give a definite diagnosis of Marfan syndrome in accordance with Ghent criteria. 44 of them had missense mutations, 6 of whom had suffered an aortic event (with either prophylactic surgery for aneurysm or dissection), whereas 20 of the 35 patients with truncating mutations had suffered an event (13.6% vs. 57.1%, p < 0.001). These events tended to occur at earlier ages in patients with truncating compared to those with missense mutations, although not significantly (41.33 ± 3.77 vs. 37.5 ± 9.62 years, p = 0.162).ConclusionsPatients with MFS and truncating variants in FBN-1 presented a higher proportion of aortic events, compared to a more benign course in patients with missense mutations. Genetic findings could, therefore, have importance not only in the diagnosis, but also in risk stratification and clinical management of patients with suspected MFS.Electronic supplementary materialThe online version of this article (10.1186/s13023-017-0754-6) contains supplementary material, which is available to authorized users.

show abstract

Section: Discussionmentioning

confidence: 99%

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

Becerra-Muñoz

Gómez‐Doblas

Porras

et al. 2018

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

show abstract

“…Being familiar with the different signs and extracardiac symptoms that characterize the phenocopies is necessary to reach a definite diagnosis ( Table 10 ). The implications of identifying an inborn metabolic disorder or a familiar condition is crucial for the patient’s safety and wellbeing, as well as for family planning 106 .…”

Section: Discussionmentioning

confidence: 99%

Storage diseases with hypertrophic cardiomyopathy phenotype

Ruiz-Guerrero

Barriales‐Villa

2018

gcsp

Self Cite

View full text Add to dashboard Cite

Never judge a book by its cover, nor assume hypertrophic cardiomyopathy (HCM) as sarcomeric, as appearances can deceive. HCM phenocopies account for a 5–10% of the cases, mainly represented by storage diseases, flagged by the increasing prevalence of senile cardiac amyloid in developing countries. Multisystemic and heterogeneous presentation of these entities is a challenge for clinicians, and time delay in diagnosis is a major concern. Promising drugs and gene-specific tailored therapies are under development, therefore, more than ever, appropriate understanding of these conditions is mandatory for adequate early treatment and counselling.In this review, storage disorders will be classified as extracellular and intracellular deposit storage diseases, focusing our attention on the most prevalent conditions from the cardiologist’s perspective.

show abstract

“…El ecocardiograma es la prueba complementaria indicada cuando existe la sospecha 8 . El padre de esta paciente había presentado una coartación de aorta en la infancia, y se conoce que el riesgo de tener un niño con una cardiopatía congénita aumenta cuando uno de sus progenitores la ha tenido 9 .…”

Section: Discussionunclassified

Crisis adrenérgica como forma de debut de un neuroblastoma

et al. 2020

View full text Add to dashboard Cite

La forma clínica de presentación más común del neuroblastoma es el de una masa abdominal, pero puede presentarse con sintomatología menos habitual, como es la crisis adrenérgica por liberación de catecolaminas.Objetivo: Describir una forma de presentación inusual de neuroblastoma y el amplio diagnóstico diferencial que existe en un lactante con síntomas adrenérgicos.Caso Clínico: Lactante femenina de 7 semanas de vida, consultó por historia de tres semanas de sudoración e irritabilidad a lo que se asoció fiebre de 24 h de evolución y dificultad respiratoria. Al ingreso presentaba mal estado general, irritabilidad, sudoración, enrojecimiento facial, taquipnea y palidez cutánea, taquicardia sinusal extrema e hipertensión arterial (HTA), interpretadas como sintomatología adrenérgica. Se completó el estudio con una ecografía abdominal y resonancia magnética que mostraron una gran masa retroperitoneal compatible con neuroblastoma. Las catecolaminas en sangre y en orina mostraron altos niveles de dopamina, adrenalina y noradrenalina, probablemente de origen tumoral. Se inició tratamiento antihipertensivo con fármacos alfa bloqueantes con buen control de la tensión arterial. Se resecó quirúrgicamente el tumor sin incidencias y con una adecuada recuperación posterior. La paciente presentó evolución favorable a tres años de seguimiento.Conclusiones: en un lactante con sintomatología adrenérgica como irritabilidad, enrojecimiento, sudoración asociada a HTA, se debe descartar patología cardiaca, metabólica (hipoglucemia), intoxicaciones y/o patología suprarrenal. Dentro de esta última, el neuroblastoma es la primera posibilidad diagnóstica, por ser uno de los principales tumores en la infancia y aunque esta presentación no es habitual puede producir estos síntomas.

show abstract

Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms

Cited by 19 publications

References 31 publications

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

Storage diseases with hypertrophic cardiomyopathy phenotype

Crisis adrenérgica como forma de debut de un neuroblastoma

Contact Info

Product

Resources

About