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Heart Valve Surgery

Heart Valve Surgery Overview Heart valve surgery is an operation that fixes or replaces one or more of the four valves in your heart. Your valves, located between your heart’s four chambers, keep your blood moving the right way. Valves act like doors that open and close with each heartbeat, letting blood flow in and out of the chambers. When valves are working right, your blood should flow through your heart in one direction each time your heart beats. Your four heart valves are: Tricuspid , between your right upper and lower chambers. Pulmonary, between your right ventricle (lower chamber) and your pulmonary artery. Mitral, between your left upper and lower chambers. Aortic, between your left ventricle (lower chamber) and your aorta. Some of the blood may go back to the chamber or room it just left. Other times, a valve may become narrow, which may prevent blood from moving forward. This is a problem because it keeps your heart from working efficiently. Although heart valve surgery...

Russell-Silver Syndrome

Russell-Silver Syndrome Overview Russell-Silver syndrome is a rare genetic disorder that affects how your child’s body grows before and after birth. Children born with this condition often have a low birth weight and congenital anomalies (birth defects). In addition, they often have significant feeding issues and other health complications. Russell-Silver syndrome is a genetic condition that can affect any child. The disorder affects boys and girls equally. Symptoms Signs of Russell-Silver syndrome vary widely from child to child. The condition can affect many different parts of your child’s body. Common signs of the condition may include: Growth Intrauterine growth restriction (IUGR): When your baby doesn’t grow as expected during your pregnancy. Low birth weight. Failure to grow and gain weight as expected after birth (failure to thrive). Short stature. Skull and facial (craniofacial) features Large head size compared to the rest of their body (height and weight). Delayed closure of ...

Steatohepatitis

Steatohepatitis Overview Steatohepatitis (fatty liver with inflammation) often has few early symptoms, but as it progresses, watch for fatigue, upper right abdominal pain/fullness, weakness, and weight loss; more severe signs include jaundice (yellow skin/eyes), itching, leg/belly swelling, easy bruising, dark urine, and confusion, indicating serious liver damage like cirrhosis.  Symptoms Fatigue & Weakness: Feeling unusually tired or lacking energy. Abdominal Pain/Discomfort: A dull ache, fullness, or tenderness in the upper right abdomen (where the liver is). Unexplained Weight Loss: Losing weight without trying. Loss of Appetite: Not feeling hungry.  Jaundice: Yellowing of the skin and whites of the eyes. Itchy Skin: Persistent, long-lasting itching. Swelling (Edema): Fluid buildup in the legs, ankles, or abdomen (ascites). Easy Bruising/Bleeding: Bruising or bleeding more easily than normal. Dark Urine & Pale Stools: Changes in urine and stool color. Spider-...

Romano-Ward syndrome (Long QT syndrome)

Overview Long QT syndrome (LQTS) is a heart rhythm disorder that causes fast, chaotic heartbeats. The irregular heartbeats can be life-threatening. LQTS affects the electrical signals that travel through the heart and cause it to beat. Some people are born with changes in DNA that cause long QT syndrome. This is known as congenital long QT syndrome. LQTS also can happen later in life due to some health conditions, certain medicines or changes in the levels of body minerals. This is called acquired long QT syndrome. Long QT syndrome can cause sudden fainting and seizures. Young people with LQTS syndrome have a higher risk of sudden cardiac death. Treatment for long QT syndrome includes lifestyle changes and medicines to prevent dangerous heartbeats. Sometimes a medical device or surgery is needed. Symptoms The most common symptom of long QT syndrome is fainting, also called syncope. A fainting spell from LQTS can happen with little to no warning. Fainting happens when the heart beats in...

Ring chromosome syndrome

Ring chromosome syndrome Overview Ring chromosome syndrome is a rare genetic condition where a chromosome breaks at both ends and the tips fuse to form a ring, causing variable developmental issues like intellectual disability, growth failure, and distinctive features, with epilepsy being prominent in syndromes like Ring 20 and Ring 14, often linked to missing genes and genetic instability, making symptoms vary greatly by the affected chromosome and mosaicism level.  Symptoms Neurological: Intellectual disability, developmental delays (speech, motor skills), autism traits, seizures (often hard to control). Growth: Slow growth, short stature, microcephaly. Physical: Low muscle tone (hypotonia), distinctive facial features (e.g., prominent nasal tip, down-slanting eyes), puffy hands/feet (lymphedema). Other : Increased infections (especially respiratory), vision issues (retinal changes), skeletal problems (scoliosis).  Causes Gene Deletion: Often, some genes located at the ch...

Rectal prolapse

Rectal prolapse Overview Rectal prolapse happens when the rectum slips out of the anus and can be seen outside the body. While rectal prolapse may cause pain, it's rarely a medical emergency. Rectal prolapse is sometimes treated with stool softeners, suppositories and other medicines. But surgery is usually needed to treat rectal prolapse. Symptoms If you have rectal prolapse, you may notice a reddish lump that comes out of the anus, often while straining during a bowel movement. The lump may slip back inside the anus, or it may continue to be seen. Other symptoms may include: You cannot control your bowel movements, known as fecal incontinence. Constipation or loose stools. Leaking blood or mucus from the rectum. Feeling that your rectum isn't empty after a bowel movement. Causes The cause of rectal prolapse is unclear. Though it's a common belief that rectal prolapse is related to childbirth, about one-third of women with this health problem never had children. Risk facto...

Familial Dysautonomia

Familial Dysautonomia Overview Familial dysautonomia (FD) is a condition that causes problems with your nervous system. You have this condition from birth. Familial dysautonomia affects your body’s involuntary actions, such as: Breathing. Digesting. Forming tears. Regulating your blood pressure and body temperature. Salivating. It also affects your sensory nervous system. This includes: Ability to taste. Sensitivity to pain and temperature. You inherit FD from a gene change (mutation) passed down from your parents. Familial dysautonomia is also called: Riley-Day syndrome. Type III hereditary sensory and autonomic neuropathy (HSAN type III). Familial dysautonomia can increase the risk of developmental delay. People with this condition also have shorter life expectancies. Symptoms Symptoms of FD begin in infancy. Early symptoms may include: Difficulty feeding. Difficulty swallowing (dysphagia). Inability to maintain body temperature. Lack of tears when crying. Poor growth. Poor muscle to...