Limb Deficiency-Heart Malformation Syndrome

At a glance

It is a medical congenital condition characterized by limb malformation leading to terminal transverse limb defects in association with congenital heart disease. The principal abnormalities of the limbs are acheiria (congenital absence of one or both hands), apodia or abrachia (absence of part of or the entire arm), hemimelia, oligosyndactyly, and tibial bowing. The acronym FATCO Syndrome is often used and stands for Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome.

Synonyms

Hecht-Scott Syndrome; Fibular Aplasia Tibial Campomelia Oligosyndactyly Syndrome; Limb Deficiency-Heart Malformation Syndrome; FATCO Syndrome (an acronym that stands for Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome).

History

This medical condition was first described in 1981 by Dr Jacqueline T. Hecht, an American Geneticist, and Dr Charles I. Scott, Jr., an American Pediatrician. In 2005, Courtens W et al, suggested the acronym FATCO to define this complex medical condition.

Incidence

The incidence is estimated at 1:30,000 to 75,000 live births.

Genetic inheritance

It is inherited as an autosomal recessive trait. Also believed that it may be a gonadal mosaicism for a dominant mutation.

Pathophysiology

The defect may be isolated or part of a Malformation Syndrome. The severity may vary for a particular segment or as a result of the number of extremities involved. The etiology of limb malformations is diverse: they may be sporadic, single gene in origin, or occasionally the result of chromosome aneuploidy.

Clinical aspects

Severe terminal transverse defects involving all extremities, with radiologic evidence that the malformations are not the intercalary defects associated with the genetic and drug-induced phocomelia syndromes nor the quadruple amputations seen in Brazilian Acheiropody-Type Syndrome. The presence of congenital heart malformation confirms the diagnosis.

Anesthetic considerations

Echocardiography should be required to identify any congenital heart defect. The anesthetic and pharmacological considerations are determined by the cardiac anomaly and function. Most patients are affected with cardiomyopathy that will require special attention directed to the anesthesia effect onto this underlying condition.

Other conditions to be considered

• ☞Holt-Oram Syndrome (Heart and Hand Syndrome, Atrio-Digital Syndrome, Atriodigital Dysplasia, Cardiac-Limb Syndrome, Heart-Hand Syndrome Type 1, HOS, Ventriculo-Radial Syndrome): Autosomal dominant disorder characterized by upper limbs transverse defects and cardiac anomalies. The presence of an atrial septal defect and heart blocks is pathognomonic. It is transmitted as an autosomal dominant trait.

• Thalidomide Syndrome: Acquired medical condition that produces similar morphology to Holt-Oram Syndrome and the Hecht-Scott Syndrome but without the cardiac anomalies. Thalidomide is a medication that was first marketed in 1957 in West Germany and used during pregnancy as antiemetic agent. Following ...