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A 45-year-old man presents with progressive heart failure symptoms. Echo reveals dilated LV with reduced ejection fraction of 25%. His brother died of heart failure at age 50.
AD (most); highly heterogeneous (>50 genes)
- TTN (titin) ~25%
- LMNA (lamin A/C) ~5% - with conduction disease
- Sarcomeric, cytoskeletal, desmosomal genes
- LV dilation with systolic dysfunction
- Heart failure symptoms
- Arrhythmias (especially with LMNA - may need early ICD)
- ~25-30% of idiopathic DCM is familial
- Echo showing LV dilation with reduced ejection fraction, after excluding secondary causes (ischemic, valvular, hypertensive, alcohol/toxic, peripartum, myocarditis)
- Cardiac MRI adds tissue characterization (fibrosis, infiltration)
- Multigene panel testing is indicated given the high genetic heterogeneity; first-degree relatives warrant a screening echo and ECG because ~25-30% is familial
- Guideline-directed heart failure therapy: beta-blockers, ACE inhibitors/ARBs or ARNI, mineralocorticoid receptor antagonists, and SGLT2 inhibitors
- ICD for primary prevention in those with persistently low ejection fraction; LMNA variant carriers warrant earlier ICD consideration given their high risk of conduction disease and ventricular arrhythmia
- Advanced disease may require cardiac resynchronization, mechanical support, or transplant
- Cascade screening and serial cardiac evaluation of at-risk relatives
Gene, "Titanic": TTN (titin) variants are the most common cause of DCM. Think of the 1997 film Titanic and the "heart of the ocean" necklace, symbolizing the dilated heart in TTN-related cardiomyopathy