Dilatative Cardiomyopathy and Severe Cardiac Dysfunction in a Patient with CCFDN Syndrome

Background: CCFDN syndrome is an autorecessive disorder caused by a mutation in the CTDP1 gene on chromosome 18q23. So far it has only been reported in patients of Roma ethnicity. Clinical features include congenital cataracts, neuropathy, mild facial dysmorphism, cerebellar dysfunction, and mild intellectual disability. Patients have an increased risk for parainfectious rhabdomyolysis and complications secondary to general anesthesia.

Case: We report on a 3-year-old girl who was admitted to hospital with signs of severe cardiac failure due to dilatative cardiomyopathy. A week before she had suffered from a short febrile infectious disease. Diagnosis of CCDFN syndrome had not yet been established in the patient. The girl received a myocardial biopsy for diagnostic purposes which showed no signs of acute myocardial infection but signs of chronic damage. Muscle biopsy showed slight changes. CK levels were not elevated and there were no clinical signs for rhabdomyolysis. During the following 2 years, her cardiac function stabilized and the anticongestive medication was gradually withdrawn.

Conclusion: We suspect a preexisting dilatative cardiomyopathy with parainfectious exacerbation in our patient. So far one case of a patient with CCFDN syndrome and dilatative cardiomyopathy has been published. Our case opens the discussion whether cardiomyopathy is further (and variable) feature of CCFDN syndrome.