[CRT-FORUM] 32E 4 years old girl, with a Dilated Cardiomiopathy. Dr. de Leon Ojeda

[CRT-INFO]

Dear Dr Pedro de La Paz:
Because of the recomendations to study genetically this patient, I 
propose to start here in Cuba the study of Leight mitocondrial mutations 
in National centre of Genetic from Havana. You must send your patient 
previously to the Genetic assesment in William Soler Cardiocentre from 
Havana with me a tuesday and we will do a clinical genetic history and 
will study the genes we have here.
Thanks very much:
Dra MsC Norma Elena de León Ojeda
Clinical Geneticist from Havana Cardiocentre
Cuba

> Dear Dr. Pedro de la Paz, pediatric cardiologist from Matanzas, Cuba:
> Your case report is very interesting: you have a 4 years old girl, with
> association of three clinical elements:
> 1) Dilated Cardiomyopathy
> 2) Wolff-Parkinson-White (WPW) syndrome
> 3) Sinus node dysfunction
> In your case I think that is very important the etiological diagnosis
> (genetic mutation?). Classically genetically WPW is associated with
> Hypertrophic cardiomyopathy (HCM) but a mutation of mtDNA G13513A could
> develop dilated cardiomyopathy (DCM) later. Eventually a Leigh 
> syndrome is
> possible. mtDNA G13513A mutation is an important factor in patients with
> Leigh syndrome associated with WPW syndrome and/or optic atrophy, and 
> serial
> heart function monitoring by echocardiography is recommended in this 
> group
> of patients because final condition is DCM(1). In Leigh syndrome 
> mutations
> have been identified in both nuclear- and mitochondrial-encoded genes
> involved in energy metabolism, including mitochondrial respiratory chain
> complexes I, II, III, IV, and V, which are involved in oxidative
> phosphorylation and the generation of ATP, and components of the pyruvate
> dehydrogenase complex.
> In Leigh syndrome cardiac involvement in pediatric patients have 
> oxidative
> phosphorylation (OXPHOS) disorders. Leigh or Leigh-like syndrome and 
> complex
> I and combined complex I, III, and IV deficiencies have eventually:
> 1) Hypertrophic cardiomyopathy
> 2) Dilated cardiomyopathy (your patient)
> 3) Combined ventricular hypertrophy and systolic dysfunction
> 4) LV noncompaction
> 5) Conduction and rhythm abnormalities (your patient)
>
> Cardiac assessment in children with OXPHOS disorders may reveal 
> subclinical
> abnormalities of cardiac function. Patients who present with primary 
> cardiac
> features have a poor prognosis. OXPHOS disorders should be considered 
> in the
> differential diagnosis of children presenting with otherwise unexplained
> cardiomyopathy.
> Management
> In your case I first recommend:
> Genetic study.
> Where?
> Europe: Prof Ramon Brugada in Gerona. You can send to me an e-mail and I
> will send you Ramon contact.
>
> USA: http://www.mmrl.edu/GeneticScreening.asp
> In The Molecular Genetics Program at the Masonic Medical Research
> Laboratory. Prof Charlie Antzelevitch.
>
> They have assembled a team of investigators capable of streamlining the
> approach to genetic screening and subsequent functional in vitro 
> analysis of
> ion channel mutations linked to inherited cardiac arrhythmia and 
> conduction
> disease.
> Reference
> 1) Wang SB, Weng WC, Lee NC, Hwu WL, Fan PC, Lee WT. Mutation of
> mitochondrial DNA G13513A presenting with Leigh syndrome,
> Wolff-Parkinson-White syndrome and cardiomyopathy. Pediatr Neonatol. 2008
> Aug;49:145-149.
>
> Andrés Ricardo Pérez Riera.MD
> Chief of electrovectorcardiographic sector. ABC’s Medical School, ABC
> Foundation, Santo André, São Paulo, Brazil Riera at uol.com.br
>> COLLEAGUES OF THE CRT SYMPOSIUM : My name is Pedro de la Paz, a 
>> pediatric cardiologist of Matanzas, Cuba. I would ask you about a 4 
>> years old girl, with a Dilated Cardiomiopathy, symptomatic (class 
>> II-III NYHA) with severe depressed LVEF, less than 30%, under 
>> treatment with furosemide, spironolactone, captopril and carvedilol, 
>> a WPW syndrome and a simple sinusal arrhythmia (probable sinus node 
>> dysfunction), is it possible to consider the electrical device 
>> implantation (PM), to improve her VI disfunction ?
>>
>> thanks Dr Pedro (Cuba)
>>
>
>


-- 
Dr. Sergio Dubner
President of Scientific Committee

Dr. Edgardo Schapachnik
President of Steering Committee