Cardiogenetics

Many syndromes and diseases can impact how the heart functions and a number of these are genetically inherited. The field of cardiogenetics and its relationship to identifying and treating patients with syndromes that affect the cardiac system is growing rapidly. Members of the Pediatric Cardiology team participate in many phases of genetic evaluation and testing, and work with our genetics team to translate that testing into a care plan to fit each patient’s needs. Conditions seen include and are not limited to Williams syndrome, Marfan and related syndromes, DiGeorge syndrome, as well as Noonan and Turner syndromes.

  • Cardiomyopathies. Care is dedicated to diagnosis and treatment of children with heart disease that affects how strongly the heart pumps to the body. Patients are seen for dilated cardiomyopathies resulting from illness, chemotherapy or sickle cell disease; and hypertrophic cardiomyopathies. Screening for family history of these disorders is also available.
  • Muscular Dystrophy Program. An interdisciplinary team addresses the multiple complex needs of patients with progressive muscular disease. Specialties represented include cardiology, neurology, pulmonology and orthopedics. The program sees patients monthly at the Pediatric Specialty Center at 1 Long Wharf, New Haven.
  • Arrhythmia/Channelopathies. Care is dedicated to children and families with inherited disorders of cardiac conduction and a family history of possible sudden death from arrhythmia. This includes families identified with genetically inherited arrhythmias or channelopathies that affect how the heart beats. Conditions include Long QT and Brugada syndromes, arrhythmogenic right ventricular cardiomyopathy (ARVC), catecholaminergic polymorphic ventricular tachycardia (CPVT), and familial atrial fibrillation.