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[Familial scimitar syndrome]

M Trinca¹, C Rey, G M Brevière

¹Service de cardiologie infantile, Hôpital cardiologique, Lille.

Archives Des Maladies Du Coeur Et Des Vaisseaux

|May 1, 1993

Summary

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This study presents a rare familial scimitar syndrome case in a father and son, both with a well-tolerated adult form. It highlights familial inheritance patterns for this congenital heart defect.

Area of Science:

Cardiology
Medical Genetics

Background:

Scimitar syndrome is a rare congenital heart anomaly characterized by anomalous pulmonary venous return.
Familial occurrences of scimitar syndrome are exceptionally uncommon, prompting investigation into genetic transmission.

Observation:

A novel familial case of scimitar syndrome involving a father and his son is documented.
Both individuals presented with the adult form of the syndrome, which was clinically well-tolerated.
A previously reported familial case involved a father and daughter.

Findings:

The observation of two distinct familial scimitar syndrome cases (father-son and father-daughter) suggests a potential genetic basis.
The adult form of scimitar syndrome appears to be well-tolerated in these familial instances.

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Implications:

Further research into the genetic etiology of scimitar syndrome is warranted.
Understanding the mode of genetic transmission could aid in early diagnosis and management of affected families.