Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients.

ABSTRACT: Genetically determined left ventricular excessive trabeculation (LVET) has a wide clinical spectrum ranging from asymptomatic subjects to severe heart failure with arrhythmias and thromboembolic events. Unlike other cardiomyopathies, the relatives of LVET patients never reach the spotlight of guidelines and clinical practice, although these family members can be often affected by these conditions. Thus, we aimed to investigate the relatives of LVET by multidimensional analysis, such as genetic testing, ECG and cardiac ultrasound (ECHO). We included 55 blood relatives from the family of 18 LVET patients (male = 27, age = 44 ± 20.8y), who underwent anamnesis registration. With Sanger sequencing, the relatives were classified into genetically positive (GEN-pos) and unaffected (GEN-neg) subgro

SUBMITTER: Mester B 

PROVIDER: S-EPMC11856360 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature