[CRT-FORUM] 31E 4 years old girl, with a Dilated Cardiomiopathy. Dr. Perez Riera

[CRT-INFO]

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