Cardiovascular Genetics Clinical Services
Cardiovascular Genetics Clinical Services

Commonly Treated Conditions

Marfan syndrome

Marfan syndrome is a condition that affects all of the connective tissue in your body. Connective tissue is responsible for holding your body’s cells, organs, and tissues together. The main features of this condition include widening of the aorta, lens dislocations of the eye, abnormalities of the spine or breast bone, flexible joints, and a long, thin body type.

Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a condition that affects all of the connective tissue in your body. Connective tissue is responsible for holding your body’s cells, organs, and tissues together. The main features of this condition include arterial tortuosity, widely spaced eyes, split uvula, and widening or dilation of arteries. It also can affect your bones and skin.

Beals Syndrome

Beals syndrome, or Congenital Contractural Arachnodactyly, is a condition that affects all of the connective tissue in your body. Connective tissue is responsible for holding your body’s cells, organs, and tissues together. The main features of this condition include a long, thin body type, long fingers and toes, contractures, underdeveloped muscles, “crumpled” ears, and occasionally widening of the aorta. 

Shprintzen Goldberg Syndrome

Shprintzen Goldberg syndrome is a condition that affects all of the connective tissue in your body. Connective tissue is responsible for holding your body’s cells, organs, and tissues together. The main features of this condition include craniosynostosis, a long, thin body type, long fingers, skeletal abnormalities, distinctive facial features and occasionally learning difficulties. 

Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a group of conditions that affect the connective tissue in your body. Connective tissue is responsible for holding your body’s cells, organs, and tissues together. There are many types of EDS and the features vary by type. Some of the features include joint hypermobility, frequent dislocations, chronic pain, early-onset arthritis, soft, velvety skin, easy bruising, abnormal wound healing or scarring, and blood vessel or organ rupture. 

Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) is a condition that affects the development of blood vessels. Typically, small vessels called capillaries separate your arteries from your veins. In HHT, some arteries flow directly into the veins forming arteriovenous malformations (AVMs). When AVMs form close to the skin, they can be seen as red markings and are known as telangiectasias. AVMs may cause bleeding of the nose, brain, liver, lungs, or other organs. 

Familial Thoracic Aortic Aneurysm and Dissection (TAAD)

Familial TAAD is characterized by widening (dilatation) of the aorta causing a bulge or aneurysm. This can lead to sudden tearing of the aorta (dissection), which can be life threatening.

Noonan Syndrome

Noonan syndrome is a genetic condition that can affect many body systems. The main features of Noonan syndrome include short stature, heart defects, bleeding problems, skeletal differences, and distinctive facial features.

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a chromosomal disorder that can affect many body systems. The main features of this condition include heart defects, a cleft palate, and distinctive facial features. Some individuals have problems with their immune system, respiratory issues, kidney abnormalities, low calcium, feeding difficulties, hearing loss, skeletal differences, and developmental delay. 

Williams Syndrome

Williams syndrome is a genetic condition that can affect many body systems. The main features of this condition include mild to moderate intellectual disability or learning problems, distinctive facial features, heart defects, blood vessel problems, increased calcium levels, and unique personality characteristics. 

Familial Cardiomyopathies

Familial cardiomyopathies are genetic forms of heart muscle disease. Changes within the heart muscle can prevent the blood from being pumped efficiently which, over time, can result in heart failure. Signs and symptoms can present anytime from infancy to adulthood and include irregular heart rhythms, shortness of breath, extreme tiredness, fainting, or sudden cardiac death. Occasionally, problems with other muscles may occur. Some common types of familial cardiomyopathies include dilated cardiomyopathy, hypertrophic cardiomyopathy, and restrictive cardiomyopathy.

Inherited Arrhythmias

Inherited arrhythmias are characterized by abnormalities in the heart’s electrical system which lead to irregular heartbeats. Irregular heartbeats may cause fainting episodes or cardiac arrest which can lead to sudden death. Some common inherited arrhythmias include Long QT syndrome, Brugada syndrome, Arrhythmogenic Right Ventricular Dysplasia (ARVD), Catecholeminergic Polymorphic Ventricular Tachycardia (CPVT) and Short QT syndrome.

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