Key result
Hypertrophic cardiomyopathy associated with TNNT2 mutations can present with little or no left ventricular hypertrophy but carries a high risk of sudden cardiac death, requiring cardiac magnetic resonance for risk stratification.
HCM patients with TNNT2 mutations may present with minimal hypertrophy but high arrhythmic risk, necessitating CMR for fibrosis detection and ICD consideration.
Answers are grounded in this paper and cite their sources.
Supports CMR in TNNT2 carriers despite minimal hypertrophy; leaves open prospective validation of genotype-specific SCD risk.
[first paragraph of article]Hypertrophic cardiomyopathy (HCM) is an inherited autosomal-dominant disease with a heterogeneous clinical presentation and natural history, and is a frequent cause of sudden cardiac death (SCD) in young people. It is associated with mutations in genes coding for sarcomere proteins. In the literature, debate surrounds the genotype-phenotype correlation of individual mutations concerning establishing a prognosis according to the mutation present, which could help stratify the disease and allow appropriate genetic counselling to families.
No takes yet. Share an insight, caveat, or question.
Ripoll‐Vera et al. (2018) conducted a review in Hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy associated with TNNT2 mutations can present with little or no left ventricular hypertrophy but carries a high risk of sudden cardiac death, requiring cardiac magnetic resonance for risk stratification.
Synapse has enriched 10 related papers. Consider them for comparative context: