My 63 year-old mother-in-law just had emergency heart surgery where they replaced part of her torn aorta. She’s in great health except that she smokes at least a pack of cigarettes a day and has her whole life. The surgeon says she also has hypertrophic cardiomyopathy, a genetic condition.
I’m concerned about my partner (her son) who quit smoking four years ago after smoking for 12 years. He is 35 years-old in fairly good health, is 5’10” and weighs 170 pounds. He plays highly competitive ice and roller hockey three days per week but doesn’t exercise regularly or eat a very healthy diet.
Should he have special tests to see if he has hypertrophic cardiomyopathy? What does the testing entail? If he does have it, is it dangerous for him to be so sedentary and then play such a high energy sport a few days per week? He will never give up hockey (has played for 32 years) but should he play with the older men’s league (much slower) or a less aggressive league?
Hypertrophic cardiomyopathy (HC) is a disease of the heart muscle, (cardiomyopathy) characterized by thickening of the muscle, (hypertrophic). About half of the cases have a family history indicating that it is inherited. A number of genetic mutations have been discovered which cause abnormalities in the actual heart muscle cells and bring about the disease. Studies doing echocardiograms on first degree relatives (parents, siblings and children) have found evidence of the condition in one third of those relatives. So, I would estimate that your partner has about a one in six (one third of one half) chance of having the condition himself, assuming the diagnosis is correct in his mother.
The metabolic changes in HC cause the muscles cells to be stiffer than normal — this hampers the filling of the heart during diastole — the filling phase. The fibers are also hyperdynamic, meaning that they contract more vigorously than normal. In many cases the septum separated the two ventricles, the lower chambers of the heart, is especially thickened and this, together with other changes, tends to obstruct the flow of blood out of the left ventricle into the aorta during systole — the contraction phase. When present, this obstruction to outflow produces a murmur, a sound which a doctor can hear through a stethoscope. If outflow obstruction is not present, then no murmur will be produced. (To all those people who were told in childhood that they had a murmur, most murmurs are benign, and don’t indicate HC or any other heart disease.)
The most common symptom is shortness of breath, but angina (pains from the heart), fatigue and fainting may also occur. Unfortunately sudden death during exercise does occur in this condition, and may account for many of the sudden deaths in young athletes that one reads about. It is most common before the age of 30, so your partner is beyond the period of greatest risk. Nonetheless, all people with HC are advised to avoid strenuous exercise, since this most commonly precedes the sudden death.
Treatments for HC include beta blockers, which may reduce angina and fainting or calcium channel blockers, which decrease fatigue and shortness of breath. Since sudden death is thought to be caused by ventricular fibrillation, people who have been resuscitated or who have certain other high-risk irregular heart rhythms may benefit from having a pacemaker implanted. Surgery to cut out the obstruction in outflow can be done, but is high risk and reserved only for those people who are very symptomatic.
Your partner should see his doctor and have an electrocardiogram (EKG) done, which may show signs of hypertrophy. He should also have an echocardiogram, a non-invasive test similar to a sonogram. This will definitely prove or disprove the diagnosis in his case. If he does not show HC on the echo, then he would be considered at normal risk of sudden death or heart disease for someone of his age and smoking history.