| Heart-hand syndrome, Slovenian type | |
| Synonyms: | Slovenian type heart-hand syndrome |
| Symptoms: | Symptoms affecting the heart and hands |
| Complications: | Sudden death |
| Onset: | Birth (minor physical defects of the feet and hands), Adulthood (heart problems) |
| Duration: | Lifelong |
| Risk: | --> |
| Prevention: | none |
| Management: | --> |
| Prognosis: | Medium |
| Frequency: | rare, approximately 21 cases from 2 families have been described in medical literature. |
| Deaths: | yes |
Heart-hand syndrome, Slovenian type is a rare autosomal dominant genetic disorder belonging to the heart-hand syndromes.
Individuals with this condition typically exhibit progressive heart conduction disease, tachycardia, arrhythmia, dilated cardiomyopathy which begins during a patient's adulthood and congenital (from birth) minor physical anomalies such as clinodactyly, syndactyly and brachydactyly that affects the feet more than the hands.[1] [2]
There are various complications associated with this syndrome, these are (but are not limited to):
This condition is caused by a splice site mutation in the LMNA gene, located in chromosome 1. This mutation is inherited following an autosomal dominant manner.[4]
There are various methods of diagnosis, some of them are:
In 2008, Renou et al. sequenced the LMNA gene of 12 members of the Slovenian family described by Sinkovec et al. and by doing this they identified a splice site mutation that was not found in 100 healthy control subjects without this type of heart-hand syndrome.[5]
When radiograph, members of the Slovenian family reported by Sinkovec et al. were found to have various radiographic anomalies, these included the duplication of the second metatarsal's bases, terminal phalange symphalangism of the toes, extra foot ossicles, brachyphalangy, etc.[6]
Abnormal heart beats can be diagnosed through electrocardiograms.[7]
According to OMIM, only 21 cases from 2 Slovenian and Irish/German Canadian families have been described in medical literature.[8]
This condition was first discovered in 2005 by Sinkovec et al. when they described 10 members belonging to a 4-generation Slovenian family with progressive sinoatrial and atrioventricular conduction disease, ventricular tachyarrhythmia-associated sudden death, dilated cardiomyopathy, and a unique type of brachydactyly which affected the hands to a lesser extent than it affected the feet, it involved the following symptoms:
This condition's name originates from the fact that the first family described in medical literature with this association of symptoms was from Slovenia.