Left ventricular non compaction causes management

Lvnc causes management diagnosis genetics clinical features

1. Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Department of Cardiology Presentation

2. Definition LVNC is a genetic or acquired cardiomyopathy characterized by a two-layered myocardium: a thin compacted outer layer and a thick non-compacted inner layer with deep trabeculations.

3. Epidemiology Prevalence estimated between 0.014%–1.3% depending on diagnostic criteria and population studied. Can present in both children and adults; often underdiagnosed.

4. Embryology During fetal development, the myocardium compacts from base to apex and epicardium to endocardium. Failure of this compaction process leads to prominent trabeculations and deep intertrabecular recesses.

5. Genetics Familial cases account for 20–50% of patients. Mutations in sarcomeric genes: MYH7, MYBPC3, TNNT2, ACTC1, TAZ (Barth syndrome).

6. Pathophysiology Non-compacted myocardium results in systolic and diastolic dysfunction. Increased risk of arrhythmia, thromboembolism, and progressive heart failure.

7. Clinical Features Heart failure (systolic/diastolic dysfunction). Arrhythmias: atrial fibrillation, ventricular tachycardia, conduction abnormalities. Thromboembolic events due to sluggish flow in deep recesses. Sudden cardiac death (rare but possible).

8. Diagnostic Modalities Echocardiography: NC/C ratio > 2:1 (Jenni criteria). CMR: NC/C > 2.3 at end-diastole (Petersen criteria). CT and contrast echo can also assist. Differentiation from physiological trabeculations is essential.

9. CMR Findings Hyper-trabeculated myocardium with late gadolinium enhancement indicating fibrosis. Helps quantify non-compacted to compacted layer ratio and LV function.

10. Differential Diagnosis Apical hypertrophic cardiomyopathy. Dilated cardiomyopathy with trabeculations. Endocardial fibroelastosis. Thalassemia-related cardiomyopathy.

11. Complications Progressive systolic dysfunction and heart failure. Ventricular arrhythmias and sudden cardiac death. Systemic thromboembolism (including stroke).

12. Management Heart failure management per ESC/ACC guidelines. Beta-blockers, ACE inhibitors/ARBs/ARNI, SGLT2 inhibitors. ICD in patients with LVEF <35% or malignant arrhythmia. Anticoagulation for patients with LV dysfunction or atrial fibrillation.

13. Advanced Therapies Cardiac resynchronization therapy (CRT) in select patients. LV assist device or heart transplantation in end-stage cases.

14. Follow-up and Family Screening Screen first-degree relatives with echo or CMR. Genetic counseling recommended in familial cases. Regular follow-up for arrhythmia surveillance and LV function.

15. Prognosis Variable depending on LV function, fibrosis, arrhythmia burden. Poor prognosis with advanced HF or sustained VT/VF. Better outcomes in asymptomatic or incidentally detected cases.

16. Recent ESC/ACC Highlights (2023–2024) LVNC classified under 'genetic cardiomyopathies with variable phenotype.' Emphasis on multimodality imaging (echo + CMR). Individualized management and risk stratification recommended.

17. Key Takeaways LVNC is increasingly recognized due to advanced imaging. Diagnosis requires careful differentiation from normal variants. Management aligns with general cardiomyopathy guidelines. Family screening and longitudinal follow-up are essential.