A case report of non-lamin A/C dilated cardiomyopathy presenting in a patient with Najjar-Malouf syndrome.

BACKGROUND

Phenotyping and genotyping of cardiomyopathies are becoming increasingly important. We describe a rare form of syndromic dilated cardiomyopathy, years after the initial diagnosis of intellectual disability and hypergonadotropic hypogonadism, known as Najjar-Malouf syndrome or cardiogenital syndrome.

CASE SUMMARY: A 45-year-old woman was referred for inpatient treatment because of progressive dyspnoea, chest tightness, and ankle oedema. She had a diagnosis of undefined psychomotor development delay and hypergonadotropic hypogonadism, for which she has been receiving hormone substitution treatment since she was 19 years old. The physical examination revealed signs of congestion as well as a right convex thoracic scoliosis and hyperkyphosis. Cardiac biomarkers were elevated, and echocardiography showed severe dilated cardiomyopathy with impaired systolic function, severe pulmonary hypertension, and secondary mitral regurgitation. Cardiac magnetic resonance imaging showed a severely dilated left ventricle with severely reduced left ventricular ejection fraction (20%), thinned myocardium, and late-gadolinium enhancement predominantly in the septum. Genetic screening for dilatative cardiomyopathy-associated genes revealed no mutations, in particular, no mutation of the lamin A/C (LMNA) gene. The patient progressed to heart failure with severely reduced ejection fraction 26 years after diagnosis of psychomotor development delay and hypergonadotropic hypogonadism.

DISCUSSION: The triad of intellectual disability, hypergonadotropic hypogonadism, and cardiomyopathy enabled the diagnosis of Najjar-Malouf syndrome, also known as cardiogenital syndrome. This case underscores the diagnostic and therapeutic challenges of Najjar-Malouf syndrome, emphasizing the significance of thorough evaluation and genetic testing, particularly considering the association with LMNA mutations. Further research is needed to improve understanding and management strategies for this rare syndrome.