[ARVD-FORUM] Personal message. Dr. Perez Riera

[ARVD Symposium]

English - Portuguese

Dear Dr. Isabel Escape: 
Yes.  Please see the mensagem by Dr Beena Johnson, Executive Editor, Journal 
of Indian Association for Child and Adolescent Mental Health, Hospital, 
Calicut, Kerala, India.

Best regard
Andrés Ricardo Pérez Riera.

------------------

Prezada Dra Isabel Escape: 
Sim. Por favor veja a mensagem de Dr Beena Johnson Editor Executivo da revista 
Indian Association for Child and Adolescent Mental Health, Hospital, Calicut, 
Kerala, India.

Saludações
Andrés Ricardo Pérez Riera

 _______________________________________
>
> English - Spanish
>
> Thank you Dr. Perez Riera.
>
> I would like to ask you another couple of things:
>
> Is there any other option to treat attention deficit disorder?
> Would there be any possibility of conducting genetic studies with the
> samples of the autopsy performed, and thus search for such genes in
> relatives?
>
> Dra. Isabel Escape
>
> ------------------------------
>
> Gracias Dr. Perez Riera
>
> quisiera preguntarle  un par de cosas mas:
>
> Hay alguna otra alternativa para el tratamiento del transtorno por deficit
> de atencion?.
> Habria posibilidad de hacer estudios geneticos  con las muestras de la
> autopsia realizada y de este modo buscar dichos genes en los familiares?
>
> Dra. Isabel Escape
>
>  _____________________________________
>
> > English - Spanish
> >
> > Dear colleague Dra. Isabel Escape from Barcelona.
> > Yes I confirm.  Methylphenidate is used in the treatment of
> > attention-deficit/hyperactivity disorder (ADHD). ADHD are associated with
> > minor, but statistically significant, changes in heart rate and blood
> > pressure that were often observed in those receiving placebo. Given the
> > minor
> > pressor and chronotropic effect of these medications, patients with ADHD
> > should have their blood pressure and heart rate checked at baseline and
> > periodically during treatment. Wilens TE, Hammerness PG, Biederman J,  et
> > al Blood pressure changes associated with medication treatment of adults
> > with attention-deficit/hyperactivity disorder. J Clin Psychiatry.
> > 2005;66:253-259.
> >
> > Methylphenidate-induced increases in blood pressure are in part due to
> > its central dopaminergic effects.  Methylphenidate's pressor effects may
> > be in part mediated by dopamine-induced increases in peripheral
> > epinephrine.(Volkow
> > ND, Wang GJ, Fowler JS,  et al Cardiovascular effects of methylphenidate
> > in humans are associated with increases of dopamine in brain and of
> > epinephrine in plasma.Psychopharmacology (Berl). 2003;166:264-270).
> >
> > In ARVC/D we observe catecholamines facilitation. The induction of the VT
> > generally is dependent of the infusion of isoproterenol. Catecholamines
> > increase the ST segment elevation.
> >
> > ARVC/D Type 2 an autosomal dominant pattern of inheritance mapped to the
> > long arm of chromosome 1. Cytogenetics is 1q42-q43 and the OMIN number is
> > 600996 is characterized by presenting as a minor or "concealed phase",
> > showing PVT induced by strain. Since both loci, ARVD1 and ARVD2, were
> > mapped near the alpha-actin gene, it is possible to involve it with these
> > myofibrillar proteins in the pathogenesis of ARVC/D (Rampazzo A, Nava A,
> > Erne P, Eberhard M, Vian E, Slomp P, Tiso N, Thiene G, Danieli GA.A new
> > locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to
> > chromosome 1q42-q43. Hum Mol Genet. 1995;  4:2151-2154.).  A  RYR2
> > mutation has been identified in four independent families. The RyR2
> > protein in myocardial cells activated by ion calcium Ca2+ induces cation
> > release from the sarcoplasmic reticulum to cytosol. The RyR2 protein is
> > the equivalent to the ryanodine receptor protein of the skeletal muscle,
> > known as RyR1. The skeletal muscle ryanodine receptor has a role in
> > malignant hyperthermia and in susceptibility in the so-called central
> > core disease (CCD) (Tiso N, Stephan DA, Nava A, et al. identification of
> > mutations in the cardiac ryanodine receptor gene in families affected
> > with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum
> > Mol Genet 2001;10:189-94.) (Tiso N, Bauce B, Rampazzo A, Bagattin A, Nava
> > A, Danieli GA. Gene symbol: RYR2. Disease: Arrhythmogenic right
> > ventricular cardiomyopathy type 2.Hum Genet. 2004; 114:405.)
> > Clinically it causes PVT induced by strain or emotional adrenergic stress
> > in a similar way to familial catecholaminergic PVT without structural
> > heart disease (Bagattin A, Bauce B, Rampazzo A, Tiso N, Nava A, Danieli
> > GA.Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular
> > arrhythmias. HumGenet. 2004;114:406.).
> >
> > FinaI conclusion: I think that is dangeours to use Methylphenidate in
> > first degree relatives of ARVD patients.
> >
> > You ask: would like to ask you, what is the recommended age to make
> > studies on them? How frequently?. Please read Dr Marcus recomendations in
> > this forum.
> >
> > Best
> >
> > Andres Perez Riera
> >
> > -----------------------
> >
> > Estimada colega, Dra. Isabel Escape de Barcelona:
> > Si, se lo confirmo. El metilfenidato se emplea en el tratamiento del
> > trastorno por deficit de atencion con hiperactividad (TDAH). El TDAH se
> > asocia con cambios menores, pero estadisticamente significativos, en la
> > frecuencia cardiaca y la presion sanguinea, que se observan con
> > frecuencia en quienes reciben placebo. Dado el efecto menor presor y
> > cronotropico de estos medicamentos, los pacientes con TDAH deben
> > verificar su presion sanguinea y su frecuencia cardiaca en condiciones
> > basales y periodicamente durante el tratamiento.
> > Wilens TE, Hammerness PG, Biederman J,  et al
> > Blood pressure changes associated with medication treatment of adults
> > with attention-deficit/hyperactivity disorder. J Clin Psychiatry.
> > 2005;66:253-259.
> >
> > Los aumentos de la presion sanguinea inducidos por metilfenidato se deben
> > en parte a sus efectos centrales dopaminergicos. Los efectos presores del
> > metilfenidato pueden ser mediados en parte por aumentos inducidos por
> > dopamina en la epinefrina periferica. (Volkow ND, Wang GJ, Fowler JS,  et
> > al Cardiovascular effects of methylphenidate in humans are associated
> > with increases of dopamine in brain and of epinephrine in plasma.
> > Psychopharmacology (Berl). 2003;166:264-270).
> >
> > En la M/DAVD observamos facilitacion de catecolaminas. La induccion de
> > las TV generalmente depende de la infusion de isoproterenol. Las
> > catecolaminas aumentan el supradesnivel del segmento ST.
> >
> > La M/DAVD tipo 2 presenta un patron autosomico dominante de herencia,
> > mapeado en el brazo largo del cromosoma 1. La citogenetica es 1q42-q43 y
> > el numero OMIM es 600996, y se caracteriza por presentarse como una
> > "etapa oculta" o menor, que muestra TVP inducida por esfuerzo. Puesto que
> > ambos locus, DAVD1 y DAVD2 se mapearon cerca del gene de la alfa actina,
> > es posible involucrarlo con estas proteinas miofibrilares en la
> > patogenesis de la M/DAVD (Rampazzo A, Nava A, Erne P, Eberhard M, Vian E,
> > Slomp P, Tiso N, Thiene G, Danieli GA. A new locus for arrhythmogenic
> > right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum
> > Mol Genet. 1995; 4:2151-2154).
> > Una mutacion RYR2 se ha identificado en cuatro familias independientes.
> > La proteina RyR2 en las celulas miocardicas, activada por el ion calcico
> > Ca2+, induce la liberacion de cationes desde el reticulo sarcoplasmatico
> > en el citosol. La proteina RyR2 es el equivalente del receptor de
> > rianodina del musculo esqueletico, conocido como RyR1. El receptor de
> > rianodina del musculo esqueletico tiene un papel en la hipertermia
> > maligna y en la susceptibilidad en la llamada enfermedad del nucleo
> > central (ENC) (Tiso N, Stephan DA, Nava A, et al. identification of
> > mutations in the cardiac ryanodine receptor gene in families affected
> > with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum
> > Mol Genet 2001;10:189-94.) (Tiso N, Bauce B, Rampazzo A, Bagattin A, Nava
> > A, Danieli GA. Gene symbol: RYR2. Disease: Arrhythmogenic right
> > ventricular cardiomyopathy type 2.Hum Genet. 2004; 114:405).
> > Clinicamente, causa TVP inducida por esfuerzo o estres adrenergico
> > emocional, de manera similar a la TVP catecolaminergica familiar sin
> > cardiopatia estructural. (Bagattin A, Bauce B, Rampazzo A, Tiso N, Nava
> > A, Danieli GA.Gene symbol:
> > RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. Hum
> > Genet. 2004;114:406).
> >
> > Conclusion final: creo que es peligroso usar el metilfenidato en
> > parientes en primer grado de pacientes con DAVD.
> >
> > Ud. pregunta: Quisiera preguntarles a ¿que edad se recomienda 
> > estudiarles? , ¿con que frecuencia? Por favor lea las recomendaciones del
> > Dr. Marcus en este foro.
> >
> > Saludos,
> >
> > Andrés Ricardo Pérez Riera
> >
> > t _____________________________________
> >
> > > English - Spanish
> > >
> > > Dear colleagues,
> > >
> > > Before anything, I want to thank you for the organization and the
> > > possibility of being able to participate in this forum about ARVD.
> > > My specialty is not cardiology, but radiology, but I find myself in the
> > > hard situation of facing my husband's death five months ago because of
> > > this disease. It could not be diagnosed, though he had been through
> > > several studies, including an electrophysiological study, which was
> > > negative. I have three children of 11, 14, and 16 years old.
> > >
> > > I would like to ask you, what is the recommended age to make studies on
> > > them? How frequently? And I also would like to know whether the
> > > medication indicated for an attention deficit disorder with
> > > hyperactivity (Methylphenidate) is counterindicated o it could have
> > > side effects. I have seen on some of the comments I have been reading
> > > these days, that it is necessary to include the partners as well in the
> > > screening. I also wanted to confirm this opinion.
> > >
> > > Thank you very much.
> > >
> > > Sincerely,
> > >
> > > Dra. Isabel Escape
> > > Barcelona
> > >
> > > Spain.
> > >
> > > ---------------------------
> > >
> > > Apreciados colegas.
> > >
> > > Ante todo queria agradecerles la organización y la posibilidad de poder
> > > participar en este forum sobre ARVD.
> > > Mi especialidad no es la cardiologia, sino la radiología,  pero me
> > > encuentro ante la difícil situación de hacer frente a la muerte de mi
> > > marido hace 5 meses a causa de esta enfermedad. No pudimos
> > > diagnosticarla a pesar de haberle hecho numeros estudios, incluído un
> > > estudio electrofisiólogico, que fue negativo.
> > > Tengo tres hijos de 11, 14, y 16 años.
> > >
> > > Quisiera preguntarles a ¿que edad se recomienda  estudiarles? , ¿con
> > > que frecuencia? y tambien saber si la medicacion que se administra para
> > > un deficit de atencion con hiperactividad (Metilfenidato)  esta
> > > contraindicada o puede tener efectos secundarios. En alguno de los
> > > comentarios que he ido leyendo estos días tambien se comenta que es
> > > necesario incluir en el screenig a los conyugues. Tambien querria
> > > confirmar esa opinión.
> > >
> > > Muchas gracias
> > >
> > > Atentamente
> > >
> > > Dra. Isabel Escape
> > > Barcelona
> > >
> > > Spain.