📂 Diseases
heart-hand syndrome, Slovenian type — Definition
Sloven tipi kalp-el sendromu / heart-hand syndrome, Slovenian type
Sloven type heart-el syndrome is a rare genetic disease where heart and upper limbs are seen together. The disease is characterized by congenital heart defects (especially ventricular septal defect) and hand/arm malformations (e.g. finger absence or merger). Autozomal indicates dominant inheritance and is associated with mutations in the LMNA gene. Clinical findings are pronounced from birth and cardiac complications may require intervention in the early period.
Disease Definition
🔬 Disease Definition
Heart-hand syndrome, Slovenian type, kalp ve el anomalilerinin birlikte görüldüğü nadir bir genetik hastalıktır. Otozomal dominant kalıtım gösterir.
🧬 Causes & Risk Factors
Hastalık, genellikle TBX5 genindeki mutasyonlardan kaynaklanır. Bu gen, kalp ve üst ekstremite gelişiminde önemli rol oynar.
🩺 Symptoms & Signs
Atriyal septal defekt, ventriküler septal defekt gibi konjenital kalp hastalıkları; başparmak hipoplazisi, yarık el gibi el anomalileri; bazen yarık damak, skolyoz gibi ek bulgular.
📋 Diagnostic Methods
Klinik değerlendirme, ekokardiyografi, el radyografisi ve genetik test (TBX5 mutasyon analizi) ile konur.
💊 Treatment Options
Kalp defektleri için cerrahi onarım; el anomalileri için rekonstrüktif cerrahi; multidisipliner takip (kardiyoloji, ortopedi, genetik).
⚠️ Complications
Tedavi edilmeyen kalp defektlerine bağlı kalp yetmezliği, pulmoner hipertansiyon; el anomalilerine bağlı fonksiyonel kısıtlılık.
Frequently Asked Questions
❓ What is Sloven tipi kalp-el sendromu?
Sloven tipi kalp-el sendromu; sloven type heart-el syndrome is a rare genetic disease where heart and upper limbs are seen together. The disease is characterized by congenital heart defects (especially ventricular septal defect) and hand/arm malformations (e.g. finger absence or merger). Autozomal indicates dominant inheritance and is associated with mutations in the LMNA gene. Clinical findings are pronounced from birth and cardiac complications may require intervention in the early period.
❓ What is heart-hand syndrome, Slovenian type in Turkish?
The Turkish equivalent of "heart-hand syndrome, Slovenian type" is Sloven tipi kalp-el sendromu.
❓ Which medical field is Sloven tipi kalp-el sendromu related to?
This term belongs to the Diseases category.