Journal of Tropical Diseases & Public Health

Cardiocutaneous syndrome: Naxos disease

6^th International Conference on Infectious Diseases Prevention and Control & 5^th International conference on Pediatrics and Healthcare

May 16, 2022 | Webinar

Sanjay Hosamane

Basaveshwara Medical College & Hospital, India

Scientific Tracks Abstracts: J Trop Dis

Abstract:

Naxos disease is a recessively inherited condition with arrythmogenic RV dysplasia/ cardiomyopathy and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma. A syndrome with same cutaneous phenotype and predominant LV involvement is CARVAJAL syndrome. Mutation in genes encoding desmosomal proteins, Plakoglobin and Desmoplakin, is the cause of the syndrome. Patients are at risk of sudden cardiac death due to cardiomyopathy. A 16 year old male child, born of a 3º consanguineous marriage, presented with abdominal distension and breathlessness of 5 months duration. At admission, child had Congestive cardiac failure with HR-124 bpm, irregular rhythm, RR-28 cpm, BP-90/50mmHg, SPO2- 97% in RA with raised JVP, hepatomegaly, ascites and basal crepitations. Child had clubbing (grade 1), precordial bulge, gallop rhythm and no murmurs. He had brown, lusterless hair, woolly appearance, focal keratoderma over palms and soles and few hyerpigmented atrophic patches over trunk. ECG showed – inverted T waves (V1-V3), `QRS prolongation and complete RBBB. Echocardiography revealed-severe biventricular dysfunction with EF-15-20%, severe MR, severe TR and PAH. Patient was treated with diuretics, ß blockers and ACE inhibitors. For child with woolly hair and palmoplantar keratoderma, the pediatrician should provide a cardiac assessment, considering Naxos/Carvajal disease associated cardiomyopathy. When an early diagnosis is made, life expectancy can be increased by treatment of Heart failure and arrhythmias.

Biography :

Sanjay Hosamane is a Consultant Pediatrician at the prestigious BMCH institute, Chitradurga, India. He graduated from the most reputed JJM medical college, Davangere, India before finding Paediatrics as his calling. Later he completed his MD Paediatrics from Father muller medical college, Mangalore, India. He has also served as chief medical officer in a community health centre. He has published his work in various international journals.