Noncompaction and dilated cardiomyopathy in carvajal syndrome.

Abstract

Introduction: Carvajal syndrome, a rare autosomal recessive disorder caused by mutations in the DSP gene, is characterised by woolly hair, palmoplantar keratoderma, and left ventricular dilated cardiomyopathy. Although less frequently reported, noncompaction cardiomyopathy can co-occur, further complicating the clinical picture. Early diagnosis and management are crucial due to the high risk of progressive heart failure and sudden cardiac death in affected individuals.

Case report: A 13-year-old male with autism presented with a 1.5-month history of persistent cough and worsening clinical symptoms, including hepatomegaly and signs of heart failure. Physical examination revealed woolly hair, patchy alopecia, nail anomalies, and ectodermal dysplasia. Echocardiography demonstrated left ventricular dilated cardiomyopathy, noncompaction, and a severely reduced ejection fraction of 23%. Initial management in the paediatric intensive care unit included inotropic support, diuretics, and beta-blockers. Genetic analysis confirmed a homozygous c.7912G > T nonsense variant in the DSP gene, establishing the diagnosis of Carvajal syndrome. The patient was referred to an advanced cardiac centre.

Discussion: Carvajal syndrome involves multisystem manifestations, with prominent dermatologic and cardiovascular features. Unlike Naxos disease, which primarily affects the right ventricle, Carvajal syndrome predominantly involves the left ventricle, as observed in this case. Notably, left ventricular noncompaction was a striking feature in our patient, further exacerbating cardiac dysfunction and complicating the clinical course. Although noncompaction cardiomyopathy is less frequently reported in Carvajal syndrome, its pronounced presence in this case underscores the phenotypic variability and severity of myocardial involvement. Intensive care management with a multidisciplinary approach was essential in stabilising this patient. Genetic testing confirmed the diagnosis and highlighted the importance of molecular diagnostics in differentiating cardiocutaneous syndromes.