This case report describes a 10-month-old male infant presenting with dyspnea, fever, poor feeding, and signs of a chest infection. Echocardiography revealed features of dilated cardiomyopathy. Treatment with diuretics, enalapril, and carnitine supplementation resulted in dramatic improvement within one month, even after discontinuing heart failure medications. Follow up over 4 years showed normal growth, development, and cardiac function with carnitine therapy, indicating carnitine deficiency was the underlying cause of the patient's dilated cardiomyopathy. Primary carnitine deficiency can cause dilated cardiomyopathy but is treatable if identified early, as complete resolution of heart disease is possible with carnitine supplementation.

1. A case of Dilated CMP,
due to Carnitine
deficiency
Professor Dr. Ali A. Hadi Al-Saady
University of Al-Ameed / College of Medicine
Department of Peadiatrics

2. Cardiomyopathy
Definition
• intrinsic or primary myocardial disease not
secondary to congenital, hypertensive,
coronary, valvular, or pericardial disease.
• functional classification: dilated,
hypertrophic, or restrictive.
2

3. Dilated Cardiomyopathy
This condition is characterized by dilatation and impaired
contraction of the left (and sometimes the right) ventricle.
The differential diagnosis includes coronary artery disease,
which must be excluded first. Other causes include:
● Alcohol.
● Inherited / familial / carnitine deficiency.
● X-linked muscular dystrophies.
● Autoimmune reactions to viral myocarditis.
3

4. Dilated Cardiomyopathy
• Most patients present with heart failure.
• Arrhythmia, thromboembolism and sudden
death are common and may occur at any stage.
• Echocardiography and MRI are useful in
establishing the diagnosis.
• Treatment is aimed at controlling the resulting
heart failure and preventing arrhythmias.
• The prognosis is variable and cardiac
transplantation may be required.
4

5. Case report
• Mishaan, a 10 months old male.
• Product of NVD , no previous history of CHD.
• Consulting cardiac clinic on 19/2/2019.
• Main complain was dyspnea, associated with fever &
poor feeding ( features of chest infection).
• His weight & height was both below 5th centile for age
( FTT).
• Negative other parts of history.
• O/E : features of chest infection, HR=180/m, FTT, cardiac
auscultation : Gallop rhythm.

6. Investigations
•CBC : Normal
•Metabolic panel : normal
•ECG : left axis deviation
•Echocardiography : moderately
reduced systolic function, with dilated
LV ( features of dilated CMP ).

7. Normal Echocardiography

9. Treatment
• The patient was treated with anti-failure medication (
diuretics, enalapril , etc… )
• A trial of carnitine was given (200mg once daily for life ).
• Patient had dramatic improvement within 1 month after
introducing therapy, even after discontinuation of anti-
failure medication with improvement in activity and
growth.
• Currently the patient is about 4 years old , with normal
growth parameters , normal developmental mildestones,
and normal cardiac & echocardiographic exams.

10. Comparisonbetweenechocardiographic
features before& after treatment

11. Carnitine-deficiency CMP.
• Primary carnitine deficiency is one of the treatable causes of
CMP, since complete resolution of the heart disease is possible
if treated early.
• Carnitine (beta-hydroxy-gamma-trimethylaminobutyric acid )is
a naturally occuring aminoacid derivative, mainly comes from
diet ( meat & dairy products ), the rest came from
endogenous synthesis.
• Carnitine plays an important role in the transfer of long chan
FA into the mitochondria for subsquent B-oxidation, which is
an important energy substrate for myocardium.
• A rare , but important & treatable cause of dilated CMP.
• Response occur within few weeks after carnitine introduction,
with improvement in cardiac size & function.