Deafness may be part of genetic conditions that pose threats of death—deaths that can be avoided—if the associated condition is identified and properly managed. Two cases illustrate the importance of genetic counseling for persons who are born deaf or whose inherited hearing loss develops in childhood and early adolescence. Such information is critical for those responsible for the children’s welfare, such as parents and school administrators. The prominence of deafness may obscure that it is a part of a syndrome or spectrum that also includes severe and, possibly, deadly consequences.

Jerome D. Schein, PhD, is professor emeritus of Sensory Rehabilitation at New York University and adjunct professor of Psychology at the University of Alberta (Canada). Maurice H. Miller, PhD, is adjunct professor emeritus of Audiology/Speech Language Pathology at New York University, and former chair of the Communications Disorders Advisory Committee for the NYC Dept of Health. Details and references related to this article can be found in the authors’ 2008 book, Hearing Disorders Handbook (www.pluralpublishing.com).

The names in the following cases are pseudonyms to protect the individuals’ privacy; however, the cases did occur as described with only minor alterations.

Alport Syndrome

At the time of his death, Stanley Altman had celebrated his 20th birthday. Home from his junior year at Gallaudet University, he agreed to have a foot problem surgically corrected—a relatively minor procedure, though one that required anesthesia. What neither he nor his surgeon knew was that Stanley had the gene for Alport syndrome. In the course of the surgery, his kidneys failed, resulting in his death. Had the surgeon been aware of Stanley’s genetic history, he would have provided for standby dialysis and likely prevented the tragic death.

Alport syndrome consists largely of hearing loss and kidney disease. The hearing loss is often progressive and usually develops before adolescence. The earliest indication of this genetic condition is blood in the urine (hematuria), which, in the absence of other symptoms than a hearing loss, is often overlooked or ignored.

In the United States, the incidence of Alport syndrome is estimated to be about 1 in 5,000 live births. It usually affects only males. However, females can have Alport syndrome, though the symptoms are less severe and slower emerging than in men.

Persons with Alport syndrome eventually have end-stage renal disease, which may occur any time between their teens and fifth decade of life. Its onset can be activated by medication, as well as by a variety of traumas and by some medical treatments.

Other syndromes that involve hearing loss and kidney disease include Epstein, hypoparathyroidism-deafness-renal dysplasia, and branchio-oto-renal syndromes. Though rare, their existence adds to the desirability to seek genetic counsel that will uncover the risks of kidney failure in children with hearing loss or deafness.

Treating the nephritis in Alport syndrome and being alert to medications and procedures that might initiate kidney failure can avert or alleviate its complications. Identifying cases of Alport syndrome and the related syndromes that include kidney disease will warn of the presence of a life-threatening condition and of measures to avoid medications and surgical procedures that can trigger renal failure.

Jervell & Lange-Nielsen Syndrome

No one panicked when Margaret Simon fainted during a soccer game in which she was playing at her school for the deaf. After all, her coach reasoned, she was a teenage girl, and syncope is not unusual for females in that age group. However, Margaret never recovered consciousness, and she died from cardiac arrhythmia, a condition due to Jervell and Lange-Nielsen syndrome. Had her genetic history been known to the school, it could have sought emergency assistance and spared her life.

Jervell and Lange-Nielsen syndrome consists of congenital severe-to-profound hearing loss and cardiac abnormalities characterized by an electrocardiographic (ECG) pattern readily identified by cardiologists. It is rare—a prevalence of less than 2 and up to 6 per 100,000 children. Its inheritance is accepted, although the precise nature of the genetics has not been resolved, in part because this syndrome has only recently been identified.

Sudden death results from the cardiac arrhythmia that may arise at any time. Because sudden death can occur in cases of Jervell and Lange-Nielsen syndrome, all children with hearing losses should have an ECG—a relatively inexpensive, noninvasive procedure with a high probability of revealing the presence of this syndrome. When a deaf child faints, the possibility of cardiac arrhythmia as the cause should immediately alert those responsible for the child’s care.

Several other genetic conditions include deafness and heart anomalies, including CHARGE association, Stickler syndrome, and oculo-auricular-vertebral spectrum. These inherited conditions argue strongly for a cardiologist to examine and a geneticist to study all children with congenital hearing loss.

Discussion

Although these conditions arise relatively infrequently, caregivers who recognize their presence among hard-of-hearing and deaf students can avoid unnecessary tragedies. Likewise, other genetic anomalies associated with deafness—like Usher syndrome—argue for routine genetic analysis of any child or student who has a hearing loss.

Prompt diagnosis can avoid later complications that may be life-threatening. A genetic investigation can uncover characteristics that may accompany the hearing loss and, in so doing, can provide information that would be useful in decisions regarding childbearing and in career planning.

Correspondence can be addressed to HR or Maurice Miller, PhD, at .