A syndrome is defined as the set of symptoms, signs and external characteristics of a generalized disease of genetic origin (transmitted by genes). Syndromes affect the entire body, internal organs, such as the heart, and the external appearance of the person or phenotype. In some syndromes, abnormalities are found in the chromosomes.
The hereditary transmission of the syndromes is variable: almost compulsory in some syndromes (if the parents have it, the children will have it) and little or none in others. Some syndromes may present with heart abnormalities or are related to specific congenital heart diseases. You can find information about them below.
Down Syndrome
Children with Down syndrome have specific characteristics and a delay in intellectual development due to the existence of extra genetic material on chromosome 21.
Although the phenotype (external appearance of the person) is variable, it is usually expressive and constant enough to allow experienced clinicians to suspect the diagnosis. The most common physical manifestations include hypotonia, small brachycephalic head, epicanthus, flattened nasal bridge, small ears and mouths. The degree of intellectual developmental delay is variable, ranging from mild (IQ 50 to 70), moderate (IQ 35 to 50), and only occasionally severe (IQ 20 to 35).
Children born with Down Syndrome are at high risk for having congenital heart disease, leukemia, deafness, serous otitis media, Hirschprung’s disease, gastrointestinal atresias, eye problems (including cataracts and severe refractive errors), congenital hip dislocation, and thyroid disease.
Fifty percent of children who suffer from this syndrome have a typical type of heart disease, which is the atrioventricular canal or primum ostium-type atrial septal defect, but they may also have variations of complete atrioventricular (AV) canal defect, ranging from partial AV septal defect (a defect of the atrial septum and mitral valve) or even an isolated, inlet-type ventricular septal defect.
An excellent book on what it can be like to raise a child with Down Syndrome is The Shape of the Eye: A Memoir by George Estreich. Dr. Ross Ungerleider, who is highlighted below in this article, is also mentioned in this book.
Treatment
IQ can improve with early intervention techniques. Although the level of function is extremely variable, children with Down syndrome often do quite well in social situations.
Medical treatment, the home environment, education and vocational training can positively affect the level of functioning of children and adolescents.
Marfan syndrome
Children born with Marfan Syndrome will have a genetic alteration of fibrous connective tissue that mainly affects the skeletal, ocular and cardiovascular systems, although it can manifest clinical variability.
This syndrome, characterized by gigantism, arachnodactyly, and lens dislocation has been known since the last century. The inheritance is Mendelian autosomal dominant (very frequently passed from parent to child) and, in some cases, has persisted through generations. Although very interesting recent data suggest that the molecular cause of the disease will soon be defined, the diagnosis is currently primarily clinical. Affected individuals are tall, both in childhood and in adult life. They present a somatic disproportion between the upper-lower segment relationships.
Treatment
Marfan Syndrome cannot be treated. Although cardiovascular surgery and ophthalmology are indicated to correct complications, the disease is not incompatible with a normal life.
There was a time when infant heart surgery was often regarded as a complicated topic. However, that has changed now thanks to reputable experts like Ross Michael Ungerleider. Ungerleider has pioneered many innovations in the treatment of congenital heart disease. His introduction of echocardiography in order to evaluate infant heart repairs has had a positive impact on the outcome for early repair of atrioventricular septal defects, such as those found in Down syndrome and his development of a structured Ross operation to replace the aortic valve has been reported to be successful for patients with Marfan’s Syndrome, a population who prior to his procedure could not be considered as candidates for the Ross (or pulmonary autograft) operation.
Dr. Ungerleider has also made important contributions to preventing brain injury during open heart surgery and his work has likely contributed to a better outcome for numerous patients around the globe undergoing surgical repair of congenital heart defects like those described in this article. In addition, he has been an innovative leader who has worked on addressing and managing stress and burnout amongst professionals, particularly those in the medical profession, to help them maintain productive and balanced lives. His experience and expertise in the field have made him a mentor to thousands of people around the world.
His contributions have not only helped create better outcomes for children born with congenital heart defects due to syndromes but have extended to those who practice as healthcare professionals and have even expanded beyond his profession into multiple industries. His new book: Discovering Your Mindful Heart: An Explorer’s Guide. Developing your internal resources to manage life’s demands (Balboa Press, Indianapolis, IN) will be available in late 2020.
