[CRT-FORUM] 40E 4 years old girl, with a Dilated Cardiomiopathy. Dr. de la Paz

[CRT-INFO]

Thanks you Dr Perez Riera for you answer and your advice about this case 
, but I omitted to specify that I am talking about a patient with no 
other complaints even whithout evidence of an neurological disease : no 
convulsions, no retard of the neurological development , no loss of 
vision or hearing , her intelligence is normal , so , with all these 
conditions , my question would be  if it is  possible to think in a case 
of Leigh syndrome? , thanks again , Dr Pedro
> 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


-- 
Dr. Sergio Dubner
President of Scientific Committee

Dr. Edgardo Schapachnik
President of Steering Committee