Distichiasis heart congenital anomalies

Distichiasis with Congenital Heart Anomalies is a rare medical condition characterized by the presence of an additional row of eyelashes (Distichiasis) and congenital anomalies affecting the heart. This condition involves a combination of ocular and cardiac abnormalities that can vary significantly in severity among affected individuals.

Overview

Distichiasis with Congenital Heart Anomalies is a genetic disorder that affects the development of the eyes and heart. The hallmark feature, distichiasis, involves the growth of an extra row of eyelashes on the edge of the eyelids. These additional eyelashes can range from subtle to prominent and may cause irritation or damage to the cornea. The congenital heart anomalies associated with this condition can include a wide range of defects such as Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), Patent Ductus Arteriosus (PDA), and more complex heart conditions.

Causes

The exact genetic cause of Distichiasis with Congenital Heart Anomalies remains largely unknown. However, it is believed to be inherited in an autosomal dominant pattern, which means a single copy of the altered gene in each cell is sufficient to cause the disorder. Research is ongoing to identify specific genes that may be involved in the development of this condition.

Symptoms

Symptoms of Distichiasis with Congenital Heart Anomalies can vary widely among individuals. The most common ocular symptom is the presence of an extra row of eyelashes, which may lead to eye irritation, tearing, and recurrent eye infections. The severity of heart anomalies can also vary, ranging from minor defects that cause no symptoms to severe malformations that result in significant heart dysfunction. Symptoms related to heart anomalies may include shortness of breath, fatigue, and cyanosis.

Diagnosis

Diagnosis of Distichiasis with Congenital Heart Anomalies involves a comprehensive evaluation that includes a detailed medical history, physical examination, and specialized tests. Ophthalmologic examination is essential for identifying the presence of extra eyelashes. Cardiac evaluation typically involves imaging studies such as echocardiography to assess the structure and function of the heart.

Treatment

Treatment for Distichiasis with Congenital Heart Anomalies is tailored to the specific symptoms and severity of the condition in each individual. Management of distichiasis may include regular eye care, mechanical removal of the extra eyelashes, or surgical interventions in severe cases. Treatment of congenital heart anomalies depends on the type and severity of the defects and may include medications, interventional procedures, or surgery.

Prognosis

The prognosis for individuals with Distichiasis with Congenital Heart Anomalies varies depending on the severity of the heart defects and the effectiveness of treatment for both the ocular and cardiac aspects of the condition. With appropriate management, many individuals can lead normal, healthy lives.

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Distichiasis heart congenital anomalies for any updates.

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