DeCure for Endocardial fibroelastosis

Twenty-six cases of endocardial fibroelastosis were collected from three Manchester hospitals over ten years; nine occurred in four families. One family suggested X-linked recessive inheritance, with two probable female carriers having subarachnoid haemorrhages. In another, an apparently normal man fathered two affected children by different mothers, pointing to autosomal dominant inheritance with incomplete penetrance. Autosomal recessive inheritance was possible in the remaining two families but without consanguinity. The majority of cases were sporadic, making precise recurrence risks difficult to give. Two related families with fifteen children, seven of whom developed the disease, were later described; three died in infancy, but four surviving sisters aged five, fifteen months, seventeen and fourteen years became symptomless and showed decreasing left ventricular hypertrophy. The mode of inheritance in those families appeared to be autosomal or X-linked dominant with reduced penetrance.

A 2024 comprehensive review notes that endocardial fibroelastosis was first recognised in the 1940s and is characterised by atypical proliferation of fibrous and elastic tissue inside the heart, seen mainly in childhood, occasionally with familial inheritance. The cause remains unknown; genetic, infectious, metabolic, autoimmune, oncologic and medication-related factors may all play a role. The condition often coexists with structural cardiac abnormalities and presents with congestive heart failure and rhythm disturbances. ECG and imaging can aid diagnosis, but treatment is complicated by concurrent abnormalities, and strategies for management and prevention are still under investigation.

A 1968 Japanese review summarised seventeen adult cases; the main clinical signs were congestive heart failure without a remarkable murmur and ischaemic left ventricular changes on ECG. One presented case was a 31-year-old man with low serum protein (4.9 mg/dl). The authors assumed the disease was congenital, not acquired. A 1999 report described a 16-year-old girl who died suddenly and unexpectedly, with primary endocardial fibroelastosis found at autopsy; the authors noted this was an exceptional cause of death in adolescence.

A 2022 study from Boston Children’s Hospital examined outcomes of primary endocardial fibroelastosis resection in patients with small ventricles. Even after successful resection, recurrence was often observed and patients underwent repeated resections. The study aimed to determine outcomes of primary resection but the abstract does not report survival or response rates. What is still missing are prospective trials with standardised diagnostic criteria, reliable non-invasive methods to track recurrence, and any pharmacological intervention that alters the fibrotic process; current management remains surgical and supportive, with no proven medical therapy.