A simple voltage/mass index increases the suspicion of amyloidotic cardiomyopathy: an electrocardiographic and echocardiographic study of 767 patients with increased left ventricular wall thickness due to different causes

Background-Amyloidotic cardiomyopathy (AC) can mimic true left ventricular hypertrophy (LVH), including hypertrophic cardiomyopathy (HCM) and hypertensive heart disease (HHD). We assessed the diagnostic value of combined electrocardiographic/echocardiographic indexes to identify AC among patients with increased echocardiographic LV wall thickness due to either different etiologies of amyloidosis or HCM or HHD. Method-First, we studied 469 consecutive patients: 262 with biopsy/genetically proven AC (with either AL or transthyretin (TTR)-related amyloidosis); 106 with HCM; 101 with HHD. We compared the diagnostic performance of: low QRS voltage, symmetric LVH, low QRS voltage plus interventricular septal thickness >1.98 cm, Sokolow index divided by the cross-sectional area of LV wall, Sokolow index divided by body surface area indexed LV mass (LVMI), Sokolow index divided by LV wall thickness, Sokolow index divided by (LV wall/height^2.7); peripheral QRS score divided by LVMI, Peripheral QRS score divided by LV wall thickness, Peripheral QRS score divided by LV wall thickness indexed to height^2.7, total QRS score divided by LVMI, total QRS score divided by LV wall thickness; total QRS score divided by (LV wall/height^2.7). We tested each criterion, separately in males and females, in the following settings: AC vs. HCM+HHD; AC vs. HCM; AL vs. HCM+HHD; AL vs. HCM; TTR vs. HCM+HHD; TTR vs. HCM. Results-Low QRS voltage showed high specificity but low sensitivity for the identification of AC. All the combined indexes had a higher diagnostic accuracy, being total QRS score divided by LV wall thickness or by LVMI associated with the best performances and the largest areas under the ROC curve. These results were validated in 298 consecutive patients with AC, HCM or HHD. Conclusions-In patients with increased LV wall thickness, a combined ECG/ echocardiogram analysis provides accurate indexes to non-invasively identify AC. Total QRS score divided by LVMI or LV wall thickness offers the best diagnostic performance.

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes. Current ESC guidelines suggest that particular clinical features (‘red flags’) assist in differential diagnosis. Aims: To test the hypothesis that left ventricular (LV) systolic dysfunction in the presence of increased wall thickness is an age-specific ‘red flag’ for aetiological diagnosis and to determine long-term outcomes in adult patients with various types of HCM. Methods: A cohort of 1697 adult patients with HCM followed at two European referral centres were studied. Aetiological diagnosis was based on clinical examination, cardiac imaging and targeted genetic and biochemical testing. Main outcomes were: all-cause mortality or heart transplantation (HTx) and heart failure (HF) related-death. All-cause mortality included sudden cardiac death or equivalents, HF and stroke-related death and non-cardiovascular death. Results: Prevalence of different aetiologies was as follows: sarcomeric HCM 1288 (76%); AL amyloidosis 115 (7%), hereditary TTR amyloidosis 86 (5%), Anderson-Fabry disease 85 (5%), wild-type TTR amyloidosis 48 (3%), Noonan syndrome 15 (0.9%), mitochondrial disease 23 (1%), Friedreich’s ataxia 11 (0.6%), glycogen storage disease 16 (0.9%), LEOPARD syndrome 7 (0.4%), FHL1 2 (0.1%) and CPT II deficiency 1 (0.1%). Systolic dysfunction at first evaluation was significantly more frequent in phenocopies than sarcomeric HCM [105/409 (26%) versus 40/1288 (3%), (p<0.0001)]. All-cause mortality/HTx and HF-related death were higher in phenocopies compared to sarcomeric HCM (p<0.001, respectively). When considering specific aetiologies, all-cause mortality and HF-related death were higher in cardiac amyloidosis (p<0.001, respectively). Conclusion: Systolic dysfunction at first evaluation is more common in phenocopies compared to sarcomeric HCM representing an age-specific ‘red flag’ for differential diagnosis. Long-term prognosis was more severe in phenocopies compared to sarcomeric HCM and when comparing specific aetiologies, cardiac amyloidosis showed the worse outcomes.

Utilzzo dei parametri ecocardiografici tradizionali ed a Doppler tissutale nella valutazione della disfunzione atrio-ventricolare in cani affetti da malattia mitralica cronica

In questo lavoro ci siamo posti come obiettivo lo studio della disfunzione atrio-ventricolare mediante tecniche ecocardiografiche avanzate (come il Tissue Doppler Imaging - TDI) in cani affetti da malattia mitralica cronica (MVD). Una prima parte è volta alla valutazione della funzionalità diastolica del ventricolo destro. Ci siamo proposti di analizzare la funzione del ventricolo destro in cani affetti da malattia del cuore sinistro per comprendere se quest’ultima possa condizionare direttamente la performance del settore cardiaco controlaterale. I risultati più importanti che abbiamo riscontrato sono: l’assenza di differenze significative nella disfunzione sisto-diastolica del ventricolo destro in cani con MVD a diverso stadio; la diretta correlazione tra le variabili TDI di funzionalità del ventricolo destro con il grado di disfunzione del ventricolo sinistro, come indicatori di interdipendenza ventricolare; ed infine il riscontro di una maggior tendenza ad alterazioni diastoliche del ventricolo sinistro in cani con ipertensione polmonare. A quest’ultimo proposito, per quanto riguarda le variabili TDI, il rapporto E/e’ dell’anulus mitralico laterale e settale è risultato avere una differenza significativa tra i cani con ipertensione polmonare e quelli privi di ipertensione polmonare (P<0,01). Nel secondo studio abbiamo applicato il TDI per l’analisi della funzione sisto-diastolica dell’atrio sinistro. Il lavoro è stato articolato in una parte di validazione della metodica su cani normali ed una su animali affetti da MDV. I risultati ottenuti mostrano che la valutazione ecocardiografica delle proprietà di deformazione dell’atrio sinistro basata sul TDI è attuabile e riproducibile nel cane. Abbiamo fornito dei valori di normalità per questa specie e confrontato questi dati con quelli ricavati in cani portatori di MVD. Le differenza tra le varie classi di malattia, nei diversi gradi di dilatazione atriale, sono risultate limitate, ma abbiamo individuato delle correlazioni tra i parametri TDI ed alcune variabili di funzionalità atriale.