总异常的肺静脉连接,人类遗传学

Systemic veins are crucial blood vessels that return deoxygenated blood from various body tissues back to the heart. There are three systemic veins that return deoxygenated blood to the heart, they are as follows.
The coronary sinus, the heart's principal vein, resides in the coronary sulcus on the heart's posterior aspect. This broad venous channel receives nearly all venous blood from the myocardium, the heart muscle. It is fed by three primary veins: the great cardiac vein, the...

The azygos system is a crucial part of the body's circulatory system and drains most of the thorax. It comprises the azygos, hemiazygos, and accessory hemiazygos veins.
The azygos vein, positioned just right of the midline and anterior to the vertebral column, begins at the junction of the right ascending lumbar and subcostal veins, terminating in the superior vena cava. This vein drains blood from the right side of the thoracic wall, thoracic viscera, and posterior abdominal wall.
The...

The human body is a complex system of interconnected parts, and the circulatory system plays a crucial role in maintaining overall health. One key component of this system is the inferior vena cava, a large vein responsible for returning blood from the abdominopelvic viscera and abdominal walls to the heart.
The inferior vena cava is fed by numerous smaller veins. The lumbar veins, for instance, drain the posterior abdominal wall, emptying both directly into the inferior vena cava and into the...

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...