patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome is a very rare heart-hand condition characterized by a combination of cardiovascular anomalies and distinctive hand features. The condition presents with a patent ductus arteriosus, bicuspid aortic valve, and pseudocoarctation of the aorta, together with hand anomalies such as brachydactyly and features related to the fifth metacarpal. It is inherited in an autosomal dominant pattern, although the precise genetic change has not yet been identified. Because it affects fewer than 1 in 1,000,000 people, the syndrome is extremely uncommon.

The clinical presentation of this syndrome is defined by several hallmark features. All affected individuals exhibit a patent ductus arteriosus, abnormal hand morphology, pseudocoarctation of the aorta, and a bicuspid aortic valve. In addition, many individuals—between 80% and 99%—show clinodactyly of the fifth finger, a short fifth metacarpal, and a short digit. Not all individuals experience every feature, and severity varies considerably.

The underlying genetic cause of this syndrome remains under investigation; however, it is known to be inherited in an autosomal dominant pattern. This means that a single copy of the altered genetic material is sufficient to cause the condition, and an affected individual has a 50% chance of passing the variant to each child. Given that the specific gene has not yet been identified, genetic counseling is recommended for families to better understand inheritance and recurrence implications.

Currently, management of patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome focuses on supportive care and symptom management tailored to the individual. Treatment strategies generally involve a multidisciplinary team, where cardiac anomalies are addressed through medical or surgical interventions as needed and hand anomalies are evaluated by orthopedic specialists. Although no specific approved treatments exist for this syndrome, addressing the various symptoms and monitoring for potential complications remain central to care. Patients should discuss treatment options with their healthcare team and consider genetic counseling as part of family planning.

The prognosis for individuals with this syndrome varies significantly based on the severity of cardiovascular complications and associated hand anomalies. With current standards of care, many individuals are able to manage cardiac issues effectively, and overall outcomes have improved as treatment strategies evolve. It is important to recognize that severity and symptoms vary widely between individuals, and outcomes depend on factors such as age at diagnosis and access to specialized care. Families often find it helpful to connect with cardiology experts and genetic counseling services, and outcomes described in medical literature continue to evolve as standards of care improve.