Diagnosis and management of peripartum cardiomyopathy and recurrence risk.

Peripartum cardiomyopathy (PPCM) is a rare, but serious condition, with a non-negligible risk of adverse events. Several risk factors for PPCM have been individuated over the years, including Afro-American ethnicity, preeclampsia, advanced maternal age, genetic predisposition, multiparity, twin pregnancy, obesity, smoking and diabetes. However, PPCM pathophysiology is still poorly understood, thus making it challenging to develop disease specific therapies.

Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study.

Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset, progressive, multisystemic condition caused by TTR pathogenic variants. Reliable biomarkers are needed to allow early diagnosis and to monitor disease severity and progression. We measured serum concentrations of growth differentiation factor-15 (GDF-15) and uromodulin (Umod) in ATTRv patients to evaluate correlations with standard markers of disease severity (FAP stage and PND score).

Early cardiac mechanics abnormalities in patients with mitochondrial diseases.

Background: Evidence about early cardiac mechanics abnormalities in patients with mitochondrial diseases (MDs) before overt cardiomyopathy is limited.

Methods: In this prospective study, we performed a comparative analysis of conventional and speckle tracking echocardiographic parameters between patients with genetically identified MDs and no overt cardiomyopathy vs controls matched for age, sex and cardiovascular risk factors. The Newcastle mitochondrial disease adult scale (NMDAS) was calculated, using a threshold of > 21 as indicator of high disease severity.