Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

Rupesh Kumar,Subhendu Sekhar Mahapatra,Soumyajit Ghosh,Amanul Hoque,Santanu Datta,Swarnendu Datta,Subhankar Bhattacharjee,Monalisa Datta

doi:10.1155/2014/130617

Rupesh Kumar, Subhendu Sekhar Mahapatra + Show 6 more

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https://doi.org/10.1155/2014/130617

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Abstract

Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.

Highlights

Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart
Cardiac defects include mainly atrial septal or ventricular septal defect, the electrocardiographic abnormalities ranges from asymptomatic conduction disturbance to variable degree of atrioventricular block
The clinical features of Holt-Oram syndrome (HOS) are dysplasia of upper limb ranging from minor radiographic abnormalities to phocomelia and cardiac abnormalities

Summary

Introduction

Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Cardiac defects include mainly atrial septal or ventricular septal defect, the electrocardiographic abnormalities ranges from asymptomatic conduction disturbance to variable degree of atrioventricular block. Rare but other cardiac associations include pulmonary stenosis, mitral valve prolapse, and arrhythmias in the form of atrioventricular blocks. More complex cardiac lesions such as tetralogy of Fallot, endocardial cushion defects, and total anomalous pulmonary venous return are noted in these subjects. The cardiac disease may manifest as an emergency necessitating prompt intervention

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