Key result
Novel TTN nonsense mutation expands the mutational spectrum of left ventricular noncompaction.
Why the study?
Mutations in the TTN gene are associated with left ventricular noncompaction, but the exact pathogenesis remains not fully clarified.
Case Report (n=1)
No
This case report identifies a novel TTN gene mutation (c.87857G > A) associated with left ventricular noncompaction, expanding the genetic spectrum of the disease.
BACKGROUND: Left ventricular noncompaction (LVNC) is a specific type of cardiomyopathy characterized by coarse trabeculae and interspersed trabecular crypts within the ventricles. Clinical presentation varies widely and may be nonsignificant or may present with progressive heart failure, malignant arrhythmias, and multiorgan embolism. The mode of inheritance is highly heterogeneous but is most commonly autosomal dominant. The TTN gene encodes titin, which is not only an elastic component of muscle contraction but also mediates multiple signalling pathways in striated muscle cells. In recent years, mutations in the TTN gene have been found to be associated with LVNC, but the exact pathogenesis is still not fully clarified. CASE PRESENTATION: In this article, we report a case of an adult LVNC patient with a TTN gene variant, c.87857G > A (p. Trp29286*), that has not been reported previously. This 43-year-old adult male was hospitalized repeatedly for heart failure. Echocardiography showed reduced myocardial contractility, dilated left ventricle with many prominent trabeculae, and a loose texture of the left ventricular layer of myocardium with crypt-like changes. During the out-of-hospital follow-up, the patient had no significant signs or symptoms of discomfort. CONCLUSION: This case report enriches the mutational spectrum of the TTN gene in LVNC and provides a basis for genetic counselling and treatment of this patient. Clinicians should improve their understanding of LVNC, focusing on exploring its pathogenesis and genetic characteristics to provide new directions for future diagnosis and treatment.
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Tian et al. (2023) conducted a case report in Left ventricular noncompaction (LVNC) (n=1). TTN gene variant c.87857G > A was evaluated on Genetic variant identification and clinical presentation. A novel nonsense mutation in the TTN gene (c.87857G > A) was identified in a 43-year-old male with left ventricular noncompaction, enriching the mutational spectrum of the disease.
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