Work

Dilated cardiomyopathy and coagulation factor VIII deficiency as a rare genetic combination

Year: 2025

Type: article

Abstract: Genetic dilated cardiomyopathy and hemophilia are two distinct diseases. Mutations in various genes, including TTN, LMNA, and other coding proteins, play a central role in the pathogenesis of dilated cardiomyopathy. On the other hand, hemophilia is a genetically determined blood clotting disorder in which the main role is assigned to the deficiency of factors VIII or IX (hemophilia A and B). Therefore, the diagnosis and management of both diseases largely depend on genetic screening and molecular studies. The simultaneous occurrence of dilated cardiomyopathy (DCM) and hemophilia is extremely rare. Our clinical case reviews the genetic characteristics, associated complications, diagnostic approaches, clinical significance, and therapeutic strategies of both conditions.

Source: Health Policy Economics and Sociology

DOI: 10.52340/healthecosoc.2025.09.02.06

Authors: Tamaz Kheladze, Nata Kazakhashvili, Giorgi Bazerashvili, Mariam Lomidze, Sophio Tskhvedadze, Sophio Ungiadze

Institutions: Akademikos G. Chapidzis Sakhelobis Gadaudebeli Kardiologiis Tsentri, Tbilisi State University

Language: English

Topic: Cardiomyopathy and Myosin Studies

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4412659834

FWCI:

Cites:

Cited by:

Related to: 10