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Holt-Oram syndrome associated with the hypoplastic left heart syndrome
T A Glauser1, E Zackai, P Weinberg
1Division of Neurology, Children's Hospital of Philadelphia.
Clinical Genetics
|July 1, 1989
Insights
This study details the first reported case of Holt-Oram syndrome occurring with hypoplastic left heart syndrome, a severe congenital heart defect. Genetic and cardiac evaluations are crucial for managing these complex pediatric cases.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations and congenital heart defects.
- Hypoplastic left heart syndrome (HLHS) is a critical congenital heart defect involving underdevelopment of the left cardiac structures.
Observation:
- This report describes the first documented instance of Holt-Oram syndrome co-occurring with hypoplastic left heart syndrome.
- The patient presented with features of both Holt-Oram syndrome and the severe cardiac anomaly of HLHS.
Findings:
- The co-occurrence suggests a potential shared or interacting pathophysiological pathway between Holt-Oram syndrome and HLHS.
- Exploration of the molecular and developmental mechanisms linking these conditions is warranted.
Implications:
- This case highlights the importance of comprehensive genetic and cardiologic assessments in patients diagnosed with Holt-Oram syndrome.
- Early and accurate diagnosis is vital for appropriate management and counseling in families affected by these genetic and cardiac conditions.
Abstract:
We present the first case of Holt-Oram syndrome associated with the lethal congenital heart defect of hypoplastic left heart syndrome. The possible pathophysiological link is explored and the need for careful genetic and cardiologic evaluation in these patients is reiterated.