Heart-hand syndrome, Spanish type

Heart-hand syndrome, Spanish type
Heart-hand syndrome, Spanish type
Other names	Heart hand syndrome type 3 (or III), brachydactyly and intraventricular conduction defect, upper limb malformations and congenital cardiac anomalies.
Specialty	Medical genetics
Symptoms	Heart and hand anomalies
Usual onset	Conception
Duration	Life-long
Types	This is a type of heart hand syndrome, and doesn't have any subtypes itself.
Causes	Autosomal dominant inheritance
Diagnostic method	Physical examination, Radiography
Prevention	none
Prognosis	Ok
Frequency	very rare, only 1 family has ever been recorded in medical literature
Deaths	-

Heart-hand syndrome, Spanish type, also known as heart-hand syndrome type 3 or III, is a very rare genetic disorder which is characterized by heart, hand, and sometimes feet abnormalities. It is a type of heart-hand syndrome,^[2] a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the disorder has been reported in medical literature.^[3]

Description

People with this disorder have symptoms that affect the heart, hands and feet. These include:^[4]^[5]^[6]

Heart

Sick sinus
Bundle branch block

Hands

Brachydactyly which resembles brachydactyly type C
Abnormal development of the middle phalanges of the fingers
Accessory ossicle on the proximal phalange of the index finger.

Feet

Subtle feet anomalies such as syndactyly

Etimology

This condition was first discovered by Ruiz de la Fuente et al., when they described a 3-generation family from Spain with the symptoms mentioned above. The cardiac defects varied between family members; 3 members had intraventicular conduction defects and 1 had a sick sinus. In this family, the 2nd and 5th fingers were the most severely affected out of all the fingers. Autosomal dominant inheritance was suspected.^[7]