Holt-Oram Syndrome: A Rare Variant

Area of Science:

• Genetics
• Cardiology
• Orthopedics

Background:

• Holt-Oram syndrome is an autosomal dominant disorder.
• Characterized by upper limb skeletal abnormalities and congenital heart defects (CHDs).
• Common CHDs include atrial and ventricular septal defects.

Observation:

• Skeletal defects affect the upper limbs in a preaxial radial ray distribution.
• Cardiac involvement ranges from conduction disturbances to structural defects.
• Atrial septal aneurysm (ASA) is an infrequent finding, potentially linked to thrombus formation.

Findings:

• This case presents a rare association of complex cardiac lesions (tricuspid atresia, pulmonary stenosis, ASA) with conductive defects.
• The patient also experienced a left parietal infarct, suggesting paradoxical embolism.
• The study details the coexistence of typical Holt-Oram skeletal abnormalities with these complex cardiac and neurological findings.

Implications:

• Highlights the spectrum of cardiac manifestations in Holt-Oram syndrome.
• Suggests ASA as a potential source for paradoxical embolism leading to stroke.
• Emphasizes the importance of thorough cardiac and neurological evaluation in affected individuals.