What are the other Names for this Condition? (Also known as/Synonyms)

• Brachydactyly and Intraventricular Conduction Defect
• Heart-Hand Syndrome, Type 3
• Upper Limb Malformations and Congenital Cardiac Anomalies

What is Heart-Hand Syndrome, Spanish type? (Definition/Background Information)

• Heart-Hand Syndrome, Spanish type, also known as Heart-Hand Syndrome Type 3, is a very rare heart-hand syndrome described in three members of a Spanish family to date
• The condition is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle

(Source: Heart-Hand Syndrome, Spanish type; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Heart-Hand Syndrome, Spanish type? (Age and Sex Distribution)

• Heart-Hand Syndrome, Spanish type is an extremely rare congenital disorder, reported in three members spanning 3 generations of a Spanish family 
• The presentation of symptoms may occur at birth or in infancy
• Both males and females may be affected

What are the Risk Factors for Heart-Hand Syndrome, Spanish type? (Predisposing Factors)

• A positive family history may be an important risk factor, since Heart-Hand Syndrome, Spanish type can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Heart-Hand Syndrome, Spanish type? (Etiology)

• The genetic cause of Heart-Hand Syndrome, Spanish type is not known at the present time
• An autosomal dominant inheritance of the condition is suggested

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Heart-Hand Syndrome, Spanish type?

The signs and symptoms of Heart-Hand Syndrome, Spanish Type may include:

• Hemifacial hypertrophy
• Involvement of the heart

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of the metacarpal bones
• Brachydactyly
• Bundle branch block
• Short middle phalanx of finger
• Sick sinus syndrome

Frequently present symptoms in 30-79% of the cases include short toe.

Occasionally present symptoms in 5-29% of the cases:

• Abnormality of the cardiovascular system
• Ulnar deviation of the 2nd finger

(Source: Heart-Hand Syndrome, Spanish type; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Heart-Hand Syndrome, Spanish type Diagnosed?

Heart-Hand Syndrome, Spanish type is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Heart-Hand Syndrome, Spanish type?

The complications of Heart-Hand Syndrome, Spanish type may include:

• Low self-esteem
• Arrhythmia

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Heart-Hand Syndrome, Spanish type Treated?

There is no cure for Heart-Hand Syndrome, Spanish type, since the cause of the condition is unknown. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Heart-Hand Syndrome, Spanish type be Prevented?

Currently, Heart-Hand Syndrome, Spanish type may not be preventable, since it may be a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Heart-Hand Syndrome, Spanish type? (Outcomes/Resolutions)

• The prognosis of Heart-Hand Syndrome, Spanish type is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Heart-Hand Syndrome, Spanish type:

Heart-Hand Syndrome, Spanish type is also known by the following names:

• Atriodigital Dysplasia Type 3
• Cardiomelic Syndrome Type 3

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/