Heart doctors rethink diagnosis of rare cardiomyopathy affecting thousands
Researchers say many patients are misdiagnosed with a serious heart condition that may not actually threaten their lives. The finding could spare unnecessary treatments and help doctors focus resources on patients truly at risk—reshaping how cardiologists screen and manage a condition that affects an estimated 1 in 400 to 1 in 10,000 people.
Originaltitel: Left ventricular non-compaction in heart failure: contemporary perspective on diagnostic challenges and treatment opportunities
Vänster ventrikels icke-kompakthet (LVNC) förväxlas ofta med normala trabekelmönster, vilket riskerar att leda till felaktig klassificering och onödiga interventioner hos hjärtsviktspatienter. Forskargrupper från Carol Davila-universitetet i Rumänien och tyska kardiovaskulära centra granskar diagnostiska kriterier och behandlingsmöjligheter. Studien visar att prognosen främst bestäms av ventrikulär funktion, myokardial substrat och arytmibelastning — inte av trabekuläringens omfattning. Forskarna rekommenderar en pragmatisk diagnostisk strategi som kombinerar echokardiografi, hjärtmagnetresonans och selektiv gentestning för bättre riskseparering. För regionvården och medicintekindustrin är detta relevant för att undvika överdiagnostisering och identifiera patienter som faktiskt behöver aggressiv behandling. Regelverket kring klassificering förtjänar uppdatering mot funktionell risk snarare än morfologi.
Left ventricular non-compaction (LVNC) remains one of the most debated phenotypes within the spectrum of cardiomyopathy. Increasing recognition of left ventricular hypertrabeculation (LVHT) in healthy individuals and in physiological adaptive states challenges the concept of LVNC as a distinct morphological entity. In patients with heart failure (HF), distinguishing adaptive trabeculation from true cardiomyopathic LVNC is clinically critical, as misclassification may lead to unnecessary interventions or failure to identify high-risk patients. This review summarizes current evidence on the pathophysiology, imaging features, genetic background, and clinical implications of LVHT and LVNC from an HF-centred perspective. We propose a pragmatic diagnostic approach integrating echocardiography, cardiac magnetic resonance, and selective genetic testing to improve clinical interpretation, risk stratification and management. Importantly, prognosis appears to be determined primarily by ventricular function, myocardial substrate, and arrhythmic burden rather than by the extent of trabeculation itself.