The Cardiovascular Genetics Clinic is the only clinic in the region providing coordinated screening, diagnosis, management, and genetic counseling for genetic cardiac disease in children.
Common Conditions Treated
Common indications for referral include concerns about inherited connective tissue disorders, cardiac arrhythmias, cardiomyopathies, and suspicion of an underlying chromosome disorder or genetic syndrome in children with congenital heart disease.
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What to Expect During Your Appointment
Due to the specialized nature of the evaluation, most clinic visits take about two hours.
- You will meet with a genetic counselor who will document your child’s medical history and collect a detailed family history.
- A geneticist will review your child’s history and complete a detailed physical examination, looking for signs of a genetic condition.
- Your child’s cardiac assessment may include an ECG to evaluate the heart’s electrical activity and an echocardiogram (sonogram) to evaluate the heart’s structure and function. No preparation is needed for these tests.
- A cardiologist will examine your child, discuss the results of your child’s cardiac testing and review any current cardiac concerns that your child may have.
At the end of the visit, your child’s cardiac and genetic findings will be summarized and a plan for follow-up will be discussed with you. A blood draw for genetic testing may be recommended. If your insurance plan requires it, assistance with prior-authorization for genetic testing is available. Genetic counseling and education about your child’s diagnosis or possible diagnosis will be provided. Following the appointment, you and your child’s primary care physician will be sent a detailed letter summarizing your child’s visit and any follow-up recommendations.
What to Bring to Your Visit
- For connective tissue disorder evaluations, please bring a copy of your child’s current eye exam. View instructions for completing the eye exam (pdf).
- Your child’s doctor’s office may require a medical release of information form for your child’s records. View the form (pdf).
- Reports from your child’s prior cardiac evaluations. Reports from parental echocardiograms, if available.
- Family history information pertaining to any cardiac problems or genetic disorders in family members.
- Family photos can sometimes be helpful.
Commonly Treated Conditions
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 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, 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 (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 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 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 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 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.
The Ehlers Danlos Syndrome Foundation
Ehlers-Danlos National Foundation creates resources for those affected by the connective tissue disorder, Ehlers-Danlos syndrome.
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The International 22Q Foundation
The International 22q Foundation aimes to improving the quality of life for individuals affected by the 22q11.2 syndromes through family and professional partnerships.
Williams Syndrome Foundation
The Williams Syndrome Association (WSA) was formed in 1982 by, and for, families of individuals with Williams syndrome.
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